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BMC Medical Genetics

ISSN: 1471--2350
Publisher: BioMed Central


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Genome-wide association of sleep and circadian phenotypes PDF available

Author(s): Gottlieb Daniel | O'Connor George | Wilk Jemma
Volume: 8
Issue: Suppl 1
Year: 2007
Framingham Heart Study genome-wide association: results for pulmonary function measures PDF available

Author(s): Wilk Jemma | Walter Robert | Laramie Jason | Gottlieb Daniel | O'Connor George
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study PDF available

Author(s): Newton-Cheh Christopher | Guo Chao-Yu | Wang Thomas | O'Donnell Christopher | Levy Daniel | Larson Martin
Volume: 8
Issue: Suppl 1
Year: 2007
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study PDF available

Author(s): Murabito Joanne | Rosenberg Carol | Finger Daniel | Kreger Bernard | Levy Daniel | Splansky Greta | Antman Karen | Hwang Shih-Jen
Volume: 8
Issue: Suppl 1
Year: 2007
Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes PDF available

Author(s): Larson Martin | Atwood Larry | Benjamin Emelia | Cupples L Adrienne | D'Agostino Ralph | Fox Caroline | Govindaraju Diddahally | Guo Chao-Yu | Heard-Costa Nancy | Hwang Shih-Jen | Murabito Joanne | Newton-Cheh Christopher | O'Donnell Christopher | Seshadri Sudha | Vasan Ramachandran | Wang Thomas | Wolf Philip | Levy Daniel
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study PDF available

Author(s): O'Donnell Christopher | Cupples L Adrienne | D'Agostino Ralph | Fox Caroline | Hoffmann Udo | Hwang Shih-Jen | Ingellson Erik | Liu Chunyu | Murabito Joanne | Polak Joseph | Wolf Philip | Demissie Serkalem
Volume: 8
Issue: Suppl 1
Year: 2007
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness PDF available

Author(s): Levy Daniel | Larson Martin | Benjamin Emelia | Newton-Cheh Christopher | Wang Thomas | Hwang Shih-Jen | Vasan Ramachandran | Mitchell Gary
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study PDF available

Author(s): Vasan Ramachandran | Larson Martin | Aragam Jayashri | Wang Thomas | Mitchell Gary | Kathiresan Sekar | Newton-Cheh Christopher | Vita Joseph | Keyes Michelle | O'Donnell Christopher | Levy Daniel | Benjamin Emelia
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project PDF available

Author(s): Fox Caroline | Heard-Costa Nancy | Cupples L Adrienne | Dupuis Josée | Vasan Ramachandran | Atwood Larry
Volume: 8
Issue: Suppl 1
Year: 2007
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study PDF available

Author(s): Kathiresan Sekar | Manning Alisa | Demissie Serkalem | D'Agostino Ralph | Surti Aarti | Guiducci Candace | Gianniny Lauren | Burtt Nöel | Melander Olle | Orho-Melander Marju | Arnett Donna | Peloso Gina | Ordovas Jose | Cupples L Adrienne
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association with diabetes-related traits in the Framingham Heart Study PDF available

Author(s): Meigs James | Manning Alisa | Fox Caroline | Florez Jose | Liu Chunyu | Cupples L Adrienne | Dupuis Josée
Volume: 8
Issue: Suppl 1
Year: 2007
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study PDF available

Author(s): Seshadri Sudha | DeStefano Anita | Au Rhoda | Massaro Joseph | Beiser Alexa | Kelly-Hayes Margaret | Kase Carlos | D'Agostino Ralph | DeCarli Charles | Atwood Larry | Wolf Philip
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association with bone mass and geometry in the Framingham Heart Study PDF available

Author(s): Kiel Douglas | Demissie Serkalem | Dupuis Josée | Lunetta Kathryn | Murabito Joanne | Karasik David
Volume: 8
Issue: Suppl 1
Year: 2007
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study PDF available

Author(s): Lunetta Kathryn | D'Agostino Ralph | Karasik David | Benjamin Emelia | Guo Chao-Yu | Govindaraju Raju | Kiel Douglas | Kelly-Hayes Margaret | Massaro Joseph | Pencina Michael | Seshadri Sudha | Murabito Joanne
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study PDF available

Author(s): Yang Qiong | Kathiresan Sekar | Lin Jing-Ping | Tofler Geoffrey | O'Donnell Christopher
Volume: 8
Issue: Suppl 1
Year: 2007
Genome-wide association with select biomarker traits in the Framingham Heart Study PDF available

Author(s): Benjamin Emelia | Dupuis Josée | Larson Martin | Lunetta Kathryn | Booth Sarah | Govindaraju Diddahally | Kathiresan Sekar | Keaney John | Keyes Michelle | Lin Jing-Ping | Meigs James | Robins Sander | Rong Jian | Schnabel Renate | Vita Joseph | Wang Thomas | Wilson Peter | Wolf Philip | Vasan Ramachandran
Volume: 8
Issue: Suppl 1
Year: 2007
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study PDF available

Author(s): Hwang Shih-Jen | Yang Qiong | Meigs James | Pearce Elizabeth | Fox Caroline
Volume: 8
Issue: Suppl 1
Year: 2007
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports PDF available

Author(s): Cupples L Adrienne | Arruda Heather | Benjamin Emelia | D'Agostino Ralph | Demissie Serkalem | DeStefano Anita | Dupuis Josée | Falls Kathleen | Fox Caroline | Gottlieb Daniel | Govindaraju Diddahally | Guo Chao-Yu | Heard-Costa Nancy | Hwang Shih-Jen | Kathiresan Sekar | Kiel Douglas | Laramie Jason | Larson Martin | Levy Daniel | Liu Chun-Yu | Lunetta Kathryn | Mailman Matthew | Manning Alisa | Meigs James | Murabito Joanne | Newton-Cheh Christopher | O'Connor George | O'Donnell Christopher | Pandey Mona | Seshadri Sudha | Vasan Ramachandran | Wang Zhen | Wilk Jemma | Wolf Philip | Yang Qiong | Atwood Larry
Volume: 8
Issue: Suppl 1
Year: 2007
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

Author(s): Imtiaz Faiqa | Taibah Khalid | Ramzan Khushnooda | Bin-Khamis Ghada | Kennedy Shelley | Al-Mubarak Bashayer | Trabzuni Daniah | Allam Rabab | Al-Mostafa Abeer | Sogaty Sameera | Al-Shaikh Abdulmoneem | Bamukhayyar Saeed | Meyer Brian | Al-Owain Mohammed
Volume: 12
Issue: 1
Year: 2011
Association of CD14 -260 (-159) C>T and asthma: a systematic review and meta-analysis

Author(s): Zhao Linlu | Bracken Michael
Volume: 12
Issue: 1
Year: 2011
Genome Wide Association Study to predict severe asthma exacerbations in children using random forests classifiers

Author(s): Xu Mousheng | Tantisira Kelan | Wu Ann | Litonjua Augusto | Chu Jen-hwa | Himes Blanca | Damask Amy | Weiss Scott
Volume: 12
Issue: 1
Year: 2011
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III

Author(s): Zheleznyakova Galina | Kiselev Anton | Vakharlovsky Viktor | Rask-Andersen Mathias | Chavan Rohit | Egorova Anna | Schiöth Helgi | Baranov Vladislav
Volume: 12
Issue: 1
Year: 2011
ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial

Author(s): Smart-Halajko Melissa | Kelley-Hedgepeth Alyson | Montefusco Maria | Cooper Jackie | Kopin Alan | McCaffery Jeanne | Balasubramanyam Ashok | Pownall Henry | Nathan David | Peter Inga | Talmud Philippa | Huggins Gordon
Volume: 12
Issue: 1
Year: 2011
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study

Author(s): Almoguera Berta | Riveiro-Alvarez Rosa | Lopez-Castroman Jorge | Dorado Pedro | Lopez-Rodriguez Rosario | Fernandez-Navarro Pablo | Baca-García Enrique | Fernandez-Piqueras Jose | Dal-Ré Rafael | Abad-Santos Francisco | LLerena Adrián | Ayuso Carmen
Volume: 12
Issue: 1
Year: 2011
Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population

Author(s): Toyoshima Fumihiko | Oshima Tadayuki | Nakajima Shigemi | Sakurai Jun | Tanaka Junji | Tomita Toshihiko | Hori Kazutoshi | Matsumoto Takayuki | Miwa Hiroto
Volume: 12
Issue: 1
Year: 2011
Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients

Author(s): Qiao Boling | Scott Gina | Elliott Faye | Vaslin Laurence | Bentley Johanne | Hall Janet | Bishop D | Knowles Margaret | Kiltie Anne
Volume: 12
Issue: 1
Year: 2011
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Author(s): Boyden Steven | Duncan Anna | Estrella Elicia | Lidov Hart | Mahoney Lane | Katz Jonathan | Kunkel Louis | Kang Peter
Volume: 12
Issue: 1
Year: 2011
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Author(s): Sarasola Esther | Rodríguez Jose | Garrote Elisa | Arístegui Javier | García-Barcina Maria
Volume: 12
Issue: 1
Year: 2011
Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics

Author(s): Feehan Michael | Hartman John | Durante Richard | Morrison Margaux | Miller Joan | Kim Ivana | DeAngelis Margaret
Volume: 12
Issue: 1
Year: 2011
Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians

Author(s): Suriapranata Ivet | Tjong Wen | Wang Tingliang | Utama Andi | Raharjo Sunu | Yuniadi Yoga | Tai Susan
Volume: 12
Issue: 1
Year: 2011
Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder

Author(s): Aneiros-Guerrero Angel | Lendinez Ana | Palomares Arturo | Perez-Nevot Beatriz | Aguado Lidia | Mayor-Olea Alvaro | Ruiz-Galdon Maximiliano | Reyes-Engel Armando
Volume: 12
Issue: 1
Year: 2011
Melatonin receptor 1 B polymorphisms associated with the risk of gestational diabetes mellitus

Author(s): Kim Jason | Cheong Hyun | Park Byung-Lae | Baik Sei | Park Sunmin | Lee Si | Kim Min-Hyoung | Chung Jin | Choi June | Kim Moon-Young | Yang Jae-Hyug | Cho Dong-Hee | Shin Hyoung | Kim Sung-Hoon
Volume: 12
Issue: 1
Year: 2011
No evidence for association between SLC11A1 and visceral leishmaniasis in India

Author(s): Mehrotra Sanjana | Oommen Joyce | Mishra Anshuman | Sudharshan Medhavi | Tiwary Puja | Jamieson Sarra | Fakiola Michaela | Rani Deepa | Thangaraj Kumarasamy | Rai Madhukar | Sundar Shyam | Blackwell Jenefer
Volume: 12
Issue: 1
Year: 2011
Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder

Author(s): Lung For-Wey | Tzeng Dong-Sheng | Huang Mei-Feng | Lee Ming-Been
Volume: 12
Issue: 1
Year: 2011
Estrogen and progesterone-related gene variants and colorectal cancer risk in women

Author(s): Lin Jennifer | Manson JoAnn | Kraft Peter | Cochrane Barbara | Gunter Marc | Chlebowski Rowan | Zhang Shumin
Volume: 12
Issue: 1
Year: 2011
Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

Author(s): Liao Hsiao-Mei | Fang Jye-Siung | Chen Yann-Jang | Wu Kuang-Lun | Lee Kuei-Fang | Chen Chia-Hsiang
Volume: 12
Issue: 1
Year: 2011
Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma

Author(s): Rushefski Melanie | Aplenc Richard | Meyer Nuala | Li Mingyao | Feng Rui | Lanken Paul | Gallop Robert | Bellamy Scarlett | Localio A Russell | Feinstein Sheldon | Fisher Aron | Albelda Steven | Christie Jason
Volume: 12
Issue: 1
Year: 2011
A 115-bp MethyLight assay for detection of p16 (CDKN2A) methylation as a diagnostic biomarker in human tissues

Author(s): Zhou Jing | Cao Jie | Lu Zheming | Liu Hongwei | Deng Dajun
Volume: 12
Issue: 1
Year: 2011
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

Author(s): Hung Chia-Cheng | Lin Shin-Yu | Lee Chien-Nan | Chen Chih-Ping | Lin Shuan-Pei | Chao Mei-Chyn | Chiou Shyh-Shin | Su Yi-Ning
Volume: 12
Issue: 1
Year: 2011
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

Author(s): Bygum Anette | Fagerberg Christina | Clemmensen Ole | Fiebig Britta | Hafner Christian
Volume: 12
Issue: 1
Year: 2011
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin

Author(s): Dai Li | Xie Liang | Wang Yanping | Mao Meng | Li Nana | Zhu Jun | Kim Christopher | Zhang Yawei
Volume: 12
Issue: 1
Year: 2011
CRP polymorphisms and chronic kidney disease in the third national health and nutrition examination survey

Author(s): Hung Adriana | Ikizler T Alp | Griffin Marie | Glenn Kimberly | Greevy Robert | Grijalva Carlos | Siew Edward | Crawford Dana
Volume: 12
Issue: 1
Year: 2011
Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

Author(s): Peter Inga | Mitchell Adele | Ozelius Laurie | Erazo Monica | Hu Jianzhong | Doheny Dana | Abreu Maria | Present Daniel | Ullman Thomas | Benkov Keith | Korelitz Burton | Mayer Lloyd | Desnick Robert
Volume: 12
Issue: 1
Year: 2011
A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease

Author(s): Sanchez-Juan Pascual | Bishop Matthew | Croes Esther | Knight Richard | Will Robert | van Duijn Cornelia | Manson Jean
Volume: 12
Issue: 1
Year: 2011
Evidence of association with type 1 diabetes in the SLC11A1 gene region

Author(s): Yang Jennie | Downes Kate | Howson Joanna | Nutland Sarah | Stevens Helen | Walker Neil | Todd John
Volume: 12
Issue: 1
Year: 2011
Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease

Author(s): Clark Joanne | Reddy Sonika | Zheng Kangni | Betensky Rebecca | Simon David
Volume: 12
Issue: 1
Year: 2011
Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study

Author(s): Ling Yan | Li Xiaomu | Gu Qian | Chen Hongyan | Lu Daru | Gao Xin
Volume: 12
Issue: 1
Year: 2011
SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

Author(s): Frigerio Marcello | Passeri Elena | de Filippis Tiziana | Rusconi Daniela | Valaperta Rea | Carminati Mario | Donnangelo Anita | Costa Elena | Persani Luca | Finelli Palma | Corbetta Sabrina
Volume: 12
Issue: 1
Year: 2011
Rapid screening for chromosomal aneuploidies using array-MLPA

Author(s): Yan Jing-Bin | Xu Miao | Xiong Can | Zhou Da-Wen | Ren Zhao-Rui | Huang Ying | Mommersteeg Monique | van Beuningen Rinie | Wang Ying-Tai | Liao Shi-Xiu | Zeng Fanyi | Wu Ying | Zeng Yi-Tao
Volume: 12
Issue: 1
Year: 2011
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

Author(s): Hanchard Neil | Skierka Jennifer | Weaver Amy | Karon Brad | Matern Dietrich | Cook Walter | O'Kane Dennis
Volume: 12
Issue: 1
Year: 2011
New adipokines vaspin and omentin. Circulating levels and gene expression in adipose tissue from morbidly obese women

Author(s): Auguet Teresa | Quintero Yunuen | Riesco David | Morancho Beatriz | Terra Ximena | Crescenti Anna | Broch Montserrat | Aguilar Carmen | Olona Montserrat | Porras José | Hernandez Mercè | Sabench Fátima | del Castillo Daniel | Richart Cristóbal
Volume: 12
Issue: 1
Year: 2011
Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study

Author(s): Hill Lori | Hilliard DaShaunda | York Timothy | Srinivas Sindhu | Kusanovic Juan | Gomez Ricardo | Elovitz Michal | Romero Roberto | Strauss Jerome
Volume: 12
Issue: 1
Year: 2011
Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease

Author(s): Ding Keyue | Kullo Iftikhar
Volume: 12
Issue: 1
Year: 2011
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Author(s): Manes Gaël | Hebrard Maxime | Bocquet Béatrice | Meunier Isabelle | Coustes-Chazalette Delphine | Sénéchal Audrey | Bolland-Augé Anne | Zelenika Diana | Hamel Christian
Volume: 12
Issue: 1
Year: 2011
Evaluation of variants in the selectin genes in age-related macular degeneration

Author(s): Mullins Robert | Skeie Jessica | Folk James | Solivan-Timpe Frances | Oetting Thomas | Huang Jian | Wang Kai | Stone Edwin | Fingert John
Volume: 12
Issue: 1
Year: 2011
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Author(s): Khan Muzammil | Rafiq Muhammad | Noor Abdul | Ali Nadir | Ali Ghazanfar | Vincent John | Ansar Muhammad
Volume: 12
Issue: 1
Year: 2011
Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population

Author(s): Zhu Jing | Zhang Dinging | Wu Fengxia | He Fei | Liu Xiaoqi | Wu Lijun | Zhou Bin | Liu Jianping | Lu Fang | Liu Jian | Luo Ruijun | Long Wubin | Yang Minghui | Ma Shi | Wu Xiaodan | Shi Yi | Wu Tong | Lin Ying | Yang Jiyun | Yuan Guohua | Yang Zhenglin
Volume: 12
Issue: 1
Year: 2011
The role of the fat mass and obesity associated gene (FTO) in breast cancer risk

Author(s): Kaklamani Virginia | Yi Nengjun | Sadim Maureen | Siziopikou Kalliopi | Zhang Kui | Xu Yanfei | Tofilon Sarah | Agarwal Surbhi | Pasche Boris | Mantzoros Christos
Volume: 12
Issue: 1
Year: 2011
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Author(s): Keppler-Noreuil Kim | Blumhorst Catherine | Sapp Julie | Brinckman Danielle | Johnston Jennifer | Nopoulos Peggy | Biesecker Leslie
Volume: 12
Issue: 1
Year: 2011
A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes

Author(s): Della-Morte David | Beecham Ashley | Rundek Tatjana | Wang Liyong | McClendon Mark | Slifer Susan | Blanton Susan | Di Tullio Marco | Sacco Ralph
Volume: 12
Issue: 1
Year: 2011
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels

Author(s): Antoni Guillemette | Oudot-Mellakh Tiphaine | Dimitromanolakis Apostolos | Germain Marine | Cohen William | Wells Philip | Lathrop Mark | Gagnon France | Morange Pierre-Emmanuel | Tregouet David-Alexandre
Volume: 12
Issue: 1
Year: 2011
Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population

Author(s): Li Fei | Jiang Lei | Willis-Owen Saffron | Zhang Youming | Gao Jinming
Volume: 12
Issue: 1
Year: 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Author(s): Gregor Anne | Albrecht Beate | Bader Ingrid | Bijlsma Emilia | Ekici Arif | Engels Hartmut | Hackmann Karl | Horn Denise | Hoyer Juliane | Klapecki Jakub | Kohlhase Jürgen | Maystadt Isabelle | Nagl Sandra | Prott Eva | Tinschert Sigrid | Ullmann Reinhard | Wohlleber Eva | Woods Geoffrey | Reis André | Rauch Anita | Zweier Christiane
Volume: 12
Issue: 1
Year: 2011
Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

Author(s): Gjesing Anette | Nielsen Aneta | Brandslund Ivan | Christensen Cramer | Sandbæk Anneli | Jørgensen Torben | Witte Daniel | Bonnefond Amélie | Froguel Phillippe | Hansen Torben | Pedersen Oluf
Volume: 12
Issue: 1
Year: 2011
Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes

Author(s): Arora Paul | Garcia-Bailo Bibiana | Dastani Zari | Brenner Darren | Villegas Andre | Malik Suneil | Spector Timothy | Richards Brent | El-Sohemy Ahmed | Karmali Mohamed | Badawi Alaa
Volume: 12
Issue: 1
Year: 2011
An interaction between Nrf2 polymorphisms and smoking status affects annual decline in FEV1: a longitudinal retrospective cohort study

Author(s): Masuko Hironori | Sakamoto Tohru | Kaneko Yoshiko | Iijima Hiroaki | Naito Takashi | Noguchi Emiko | Hirota Tomomitsu | Tamari Mayumi | Hizawa Nobuyuki
Volume: 12
Issue: 1
Year: 2011
Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families

Author(s): Vuorela Mikko | Pylkäs Katri | Winqvist Robert
Volume: 12
Issue: 1
Year: 2011
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

Author(s): Jennes Ivy | de Jong Danielle | Mees Kirsten | Hogendoorn Pancras | Szuhai Karoly | Wuyts Wim
Volume: 12
Issue: 1
Year: 2011
Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

Author(s): McGregor Tracy | Gurnett Christina | Dobbs Matthew | Wise Carol | Morcuende Jose | Morgan Thomas | Menon Ramkumar | Muglia Louis
Volume: 12
Issue: 1
Year: 2011
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain

Author(s): Metzger Brigitte | Chambeau Laetitia | Begon Dominique | Faber Carlo | Kayser Jacques | Berchem Guy | Pauly Marc | Boniver Jacques | Delvenne Philippe | Dicato Mario | Wenner Thomas
Volume: 12
Issue: 1
Year: 2011
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

Author(s): Mouzat Kevin | Mercier Eric | Polge Anne | Evrard Alexandre | Baron Silvère | Balducchi Jean-Pierre | Brouillet Jean-Paul | Lumbroso Serge | Gris Jean-Christophe
Volume: 12
Issue: 1
Year: 2011
Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk

Author(s): Simonson Matthew | Wills Amanda | Keller Matthew | McQueen Matthew
Volume: 12
Issue: 1
Year: 2011
Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching

Author(s): Fragall Clayton | Adams Abbie | Johnsen Russell | Kole Ryszard | Fletcher Sue | Wilton Steve
Volume: 12
Issue: 1
Year: 2011
Serotonin receptor 3A polymorphism c.-42C > T is associated with severe dyspepsia

Author(s): Mujakovic Suhreta | ter Linde José | de Wit Niek | van Marrewijk Corine | Fransen Gerdine | Onland-Moret N Charlotte | Laheij Robert | Muris Jean | Grobbee Diederick | Samsom Melvin | Jansen Jan | Knottnerus André | Numans Mattijs
Volume: 12
Issue: 1
Year: 2011
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Author(s): Núñez-Torres Rocio | Fernández Raquel | Acosta Manuel | Enguix-Riego Maria del Valle | Marbá Martina | Carlos de Agustín Juan | Castaño Luis | Antiñolo Guillermo | Borrego Salud
Volume: 12
Issue: 1
Year: 2011
Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study

Author(s): Andersen Vibeke | Ernst Anja | Sventoraityte Jurgita | Kupcinskas Limas | Jacobsen Bent | Krarup Henrik | Vogel Ulla | Jonaitis Laimas | Denapiene Goda | Kiudelis Gediminas | Balschun Tobias | Franke Andre
Volume: 12
Issue: 1
Year: 2011
TNFA-863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study

Author(s): Córdoba-Lanús Elizabeth | Baz-Dávila Rebeca | de-Torres Juan | Rodríguez-Pérez María | Maca-Meyer Nicole | Varo Nerea | Medina-Coello Chaxiraxi | Aguirre-Jaime Armando | Casanova Ciro
Volume: 12
Issue: 1
Year: 2011
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Author(s): Mutai Hideki | Kouike Hiroko | Teruya Eiko | Takahashi-Kodomari Ikuko | Kakishima Hiroki | Taiji Hidenobu | Usami Shin-ichi | Okuyama Torayuki | Matsunaga Tatsuo
Volume: 12
Issue: 1
Year: 2011
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

Author(s): Trompet Stella | de Craen Anton | Postmus Iris | Ford Ian | Sattar Naveed | Caslake Muriel | Stott David | Buckley Brendan | Sacks Frank | Devlin James | Slagboom P | Westendorp Rudi | Jukema J
Volume: 12
Issue: 1
Year: 2011
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

Author(s): Garcia-Casado Zaida | Romero Ignacio | Fernandez-Serra Antonio | Rubio Luis | Llopis Francisco | Garcia Ana | Llombart Pilar | Lopez-Guerrero Jose
Volume: 12
Issue: 1
Year: 2011
Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population

Author(s): Fang QiuRong | Zhao Hailing | Wang Aihua | Gong Yaoqin | Liu Qiji
Volume: 12
Issue: 1
Year: 2011
IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

Author(s): Miyake Yoshihiro | Tanaka Keiko | Arakawa Masashi
Volume: 12
Issue: 1
Year: 2011
Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus

Author(s): Vieira Suzana | Monteiro Maria | Marques Tatiana | Luna Ana | Fortes Maria | Nery Márcia | Queiroz Márcia | Dib Sérgio | Vendramini Márcio | Azevedo Mirela | Canani Luis | Parisi Maria | Pavin Elizabeth | Giannella-Neto Daniel | Corrêa-Giannella Maria
Volume: 12
Issue: 1
Year: 2011
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group

Author(s): Santos Paulo | Soares Renata | Nascimento Raimundo | Machado-Coelho George | Mill José | Krieger José | Pereira Alexandre
Volume: 12
Issue: 1
Year: 2011
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

Author(s): Kim Mi-Jung | Kim Seon-Tae | Lee Hyoung-Doo | Lee Kyu-Yong | Seo Jiyoung | Lee Jae-Bom | Lee Young-Jae | Oh Suk
Volume: 12
Issue: 1
Year: 2011
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

Author(s): Torrezan Giovana | da Silva Felipe | Krepischi Ana | Santos Érika | de O Ferreira Fábio | Rossi Benedito | Carraro Dirce
Volume: 12
Issue: 1
Year: 2011
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

Author(s): Conte Chiara | D'Apice Maria | Rinaldi Fabrizio | Gambardella Stefano | Sangiuolo Federica | Novelli Giuseppe
Volume: 12
Issue: 1
Year: 2011
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

Author(s): Muller Danièle | Rouleau Etienne | Schultz Inès | Caputo Sandrine | Lefol Cédrick | Bièche Ivan | Caron Olivier | Noguès Catherine | Limacher Jean | Demange Liliane | Lidereau Rosette | Fricker Jean | Abecassis Joseph
Volume: 12
Issue: 1
Year: 2011
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

Author(s): Furtado Larissa | Wooderchak-Donahue Whitney | Rope Alan | Yetman Angela | Lewis Tracey | Plant Parker | Bayrak-Toydemir Pinar
Volume: 12
Issue: 1
Year: 2011
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

Author(s): Fenwick Aimee | Bowdin Sarah | Klatt Regan | Wilkie Andrew
Volume: 12
Issue: 1
Year: 2011
Association of C1QB gene polymorphism with schizophrenia in Armenian population

Author(s): Zakharyan Roksana | Khoyetsyan Aren | Arakelyan Arsen | Boyajyan Anna | Gevorgyan Anaida | Stahelova Anna | Mrazek Frantisek | Petrek Martin
Volume: 12
Issue: 1
Year: 2011
Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM)

Author(s): Chen Wei-Min | Allen E Kaitlynn | Mychaleckyj Josyf | Chen Fang | Hou Xuanlin | Rich Stephen | Daly Kathleen | Sale Michèle
Volume: 12
Issue: 1
Year: 2011
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

Author(s): Morgan Thomas | House John | Cresci Sharon | Jones Philip | Allayee Hooman | Hazen Stanley | Patel Yesha | Patel Riyaz | Eapen Danny | Waddy Salina | Quyyumi Arshed | Kleber Marcus | März Winfried | Winkelmann Bernhard | Boehm Bernhard | Krumholz Harlan | Spertus John
Volume: 12
Issue: 1
Year: 2011
Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism

Author(s): Aragonès Gerard | Alonso-Villaverde Carlos | Pardo-Reche Pedro | Rull Anna | Beltrán-Debón Raúl | Rodríguez-Gallego Esther | Fernández-Sender Laura | Camps Jordi | Joven Jorge
Volume: 12
Issue: 1
Year: 2011
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Author(s): Morey Marcos | Castro-Feijóo Lidia | Barreiro Jesús | Cabanas Paloma | Pombo Manuel | Gil Marta | Bernabeu Ignacio | Díaz-Grande José | Rey-Cordo Lourdes | Ariceta Gema | Rica Itxaso | Nieto José | Vilalta Ramón | Martorell Loreto | Vila-Cots Jaime | Aleixandre Fernando | Fontalba Ana | Soriano-Guillén Leandro | García-Sagredo José | García-Miñaur Sixto | Rodríguez Berta | Juaristi Saioa | García-Pardos Carmen | Martínez-Peinado Antonio | Millán José | Medeira Ana | Moldovan Oana | Fernandez Angeles | Loidi Lourdes
Volume: 12
Issue: 1
Year: 2011
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

Author(s): Middelberg Rita | Ferreira Manuel | Henders Anjali | Heath Andrew | Madden Pamela | Montgomery Grant | Martin Nicholas | Whitfield John
Volume: 12
Issue: 1
Year: 2011
Association of HLA-B*5801 allele and allopurinol-induced stevens johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis

Author(s): Somkrua Ratchadaporn | Eickman Elizabeth | Saokaew Surasak | Lohitnavy Manupat | Chaiyakunapruk Nathorn
Volume: 12
Issue: 1
Year: 2011
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients

Author(s): Schreiber Roberto | Ferreira-Sae Maria | Ronchi Juliana | Pio-Magalhães José | Cipolli José | Matos-Souza José | Mill José | Vercesi Aníbal | Krieger José | Franchini Kleber | Pereira Alexandre | Nadruz Junior Wilson
Volume: 12
Issue: 1
Year: 2011
Effect of heme oxygenase-1 polymorphisms on lung function and gene expression

Author(s): Tanaka Goh | Aminuddin Farzian | Akhabir Loubna | He Jian-Qing | Shumansky Karey | Connett John | Anthonisen Nicholas | Abboud Raja | Paré Peter | Sandford Andrew
Volume: 12
Issue: 1
Year: 2011
No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin

Author(s): Tabassum Rubina | Mahajan Anubha | Chauhan Ganesh | Dwivedi Om | Dubey Himanshu | Sharma Vasudha | Kundu Bratashree | Ghosh Saurabh | Tandon Nikhil | Bharadwaj Dwaipayan
Volume: 12
Issue: 1
Year: 2011
De novo deletion in MECP2 in a monozygotic twin pair: a case report

Author(s): Mittal Kirti | Kabra Madhulika | Juyal Ramesh | BK Thelma
Volume: 12
Issue: 1
Year: 2011
Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

Author(s): Kirectepe Asli | Kasapcopur Ozgur | Arisoy Nil | Celikyapi Erdem Gokce | Hatemi Gulen | Ozdogan Huri | Tahir Turanli Eda
Volume: 12
Issue: 1
Year: 2011
The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)

Author(s): Yun Jisuk | Jin Hyoung-Tae | Lee Yun-Jung | Choi Eun-Kyoung | Carp Richard | Jeong Byung-Hoon | Kim Yong-Sun
Volume: 12
Issue: 1
Year: 2011
Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and smoking among Polish population: a case-control study

Author(s): Sieminska Alicja | Buczkowski Krzysztof | Jassem Ewa | Tkacz Ewa
Volume: 9
Issue: 1
Year: 2008
TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes

Author(s): Mahurkar Swapna | Bhaskar Seema | Reddy D Nageshwar | Prakash Swami | Rao G Venkat | Singh Shivaram | Thomas Varghese | Chandak Giriraj
Volume: 9
Issue: 1
Year: 2008
Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: A relationship between HLA and gender is suggested

Author(s): Alaez Carmen | Lin Ling | Flores-A Hilario | Vazquez Miriam | Munguia Andrea | Mignot Emmanuel | Haro Reyes | Baker Harry | Gorodezky Clara
Volume: 9
Issue: 1
Year: 2008
Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China

Author(s): Chen Min | Peyrin-Biroulet Laurent | Xia Bing | Guéant-Rodriguez Rosa-Maria | Bronowicki Jean-Pierre | Bigard Marc-André | Guéant Jean-Louis
Volume: 9
Issue: 1
Year: 2008
Linkage study of fibrinogen levels: the Strong Heart Family Study

Author(s): Best Lyle | North Kari | Li Xia | Palmieri Vittorio | Umans Jason | MacCluer Jean | Laston Sandy | Haack Karin | Goring Harald | Diego Vincent | Almasy Laura | Lee Elisa | Tracy Russell | Cole Shelley
Volume: 9
Issue: 1
Year: 2008
Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

Author(s): Fontalba Ana | Fernandez-L Africa | García-Alegria Eva | Albiñana Virginia | Garrido-Martin Eva | Blanco Francisco | Zarrabeitia Roberto | Perez-Molino Alfonso | Bernabeu-Herrero Maria | Ojeda Maria-Luisa | Fernandez-Luna Jose | Bernabeu Carmelo | Botella Luisa
Volume: 9
Issue: 1
Year: 2008
The value of some Corsican sub-populations for genetic association studies

Author(s): Latini Veronica | Sole Gabriella | Varesi Laurent | Vona Giuseppe | Ristaldi Maria
Volume: 9
Issue: 1
Year: 2008
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia

Author(s): Kim Shin-Young | Lim Ji-Hyae | Yang Jae-Hyug | Kim Moon-Young | Han Jung-Yeol | Ahn Hyun-Kyong | Choi Jun-Seek | Park So-Yeon | Kim Mi-Jin | Ryu Hyun-Mee
Volume: 9
Issue: 1
Year: 2008
Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population

Author(s): Alsmadi Osama | Al-Rubeaan Khalid | Mohamed Gamal | Alkayal Fadi | Al-Saud Haya | Al-Saud Nouran | Al-Daghri Nasser | Mohammad Shahinaz | Meyer Brian
Volume: 9
Issue: 1
Year: 2008
R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome

Author(s): Gao Lin-Bo | Zhou Bin | Zhang Lin | Wei Ye-Sheng | Wang Yan-Yun | Liang Wei-Bo | Lv Mei-Li | Pan Xin-Min | Chen Yu-Cheng | Rao Li
Volume: 9
Issue: 1
Year: 2008
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

Author(s): McArdle Patrick | Rutherford Sue | Mitchell Braxton | Damcott Coleen | Wang Ying | Ramachandran Vasan | Ott Sandy | Chang Yen-Pei | Levy Daniel | Steinle Nanette
Volume: 9
Issue: 1
Year: 2008
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

Author(s): Hansen Thomas | Bisgaard Marie | Jønson Lars | Albrechtsen Anders | Filtenborg-Barnkob Bettina | Eiberg Hans | Ejlertsen Bent | Nielsen Finn
Volume: 9
Issue: 1
Year: 2008
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk

Author(s): Sanghera Dharambir | Ortega Lyda | Han Shizhong | Singh Jairup | Ralhan Sarju | Wander Gurpreet | Mehra Narinder | Mulvihill John | Ferrell Robert | Nath Swapan | Kamboh Mohammed
Volume: 9
Issue: 1
Year: 2008
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome

Author(s): Morgan Thomas | Xiao Lan | Lyons Patrick | Kassebaum Bethany | Krumholz Harlan | Spertus John
Volume: 9
Issue: 1
Year: 2008
Analysis of variants in DNA damage signalling genes in bladder cancer

Author(s): Choudhury Ananya | Elliott Faye | Iles Mark | Churchman Michael | Bristow Robert | Bishop D Timothy | Kiltie Anne
Volume: 9
Issue: 1
Year: 2008
Design considerations in a sib-pair study of linkage for susceptibility loci in cancer

Author(s): Kerber Richard | Amos Christopher | Yeap Beow | Finkelstein Dianne | Thomas Duncan
Volume: 9
Issue: 1
Year: 2008
Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study

Author(s): Grünhage Frank | Jungck Matthias | Lamberti Christoph | Keppeler Hildegard | Becker Ursula | Schulte-Witte Hildegard | Plassmann Dominik | Friedrichs Nicolaus | Buettner Reinhard | Aretz Stefan | Sauerbruch Tilman | Lammert Frank
Volume: 9
Issue: 1
Year: 2008
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

Author(s): Rosa Alexandra | Fonseca Benedita | Krug Tiago | Manso Helena | Gouveia Liliana | Albergaria Isabel | Gaspar Gisela | Correia Manuel | Viana-Baptista Miguel | Simões Rita | Pinto Amélia | Taipa Ricardo | Ferreira Carla | Fontes João | Silva Mário | Gabriel João | Matos Ilda | Lopes Gabriela | Ferro José | Vicente Astrid | Oliveira Sofia
Volume: 9
Issue: 1
Year: 2008
Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population

Author(s): Siraj Abdul | Ibrahim Muna | Al-Rasheed Maha | Abubaker Jehad | Bu Rong | Siddiqui Shakaib | Al-Dayel Fouad | Al-Sanea Osama | Al-Nuaim Abdulrahman | Uddin Shahab | Al-Kuraya Khawla
Volume: 9
Issue: 1
Year: 2008
Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE

Author(s): D'souza Anil | Kurien Biji | Rodgers Rosalie | Shenoi Jaideep | Kurono Sadamu | Matsumoto Hiroyuki | Hensley Kenneth | Nath Swapan | Scofield R Hal
Volume: 9
Issue: 1
Year: 2008
Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia

Author(s): Parimi Neeta | Tromp Gerard | Kuivaniemi Helena | Nien Jyh | Gomez Ricardo | Romero Roberto | Goddard Katrina
Volume: 9
Issue: 1
Year: 2008
Genetic and biochemical studies in Argentinean patients with variegate porphyria

Author(s): Rossetti María | Granata Bárbara | Giudice Jimena | Parera Victoria | Batlle Alcira
Volume: 9
Issue: 1
Year: 2008
Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP

Author(s): Nexø Bjørn | Vogel Ulla | Olsen Anja | Nyegaard Mette | Bukowy Zuzanna | Rockenbauer Eszter | Zhang Xiuqing | Koca Cemile | Mains Mette | Hansen Bettina | Hedemand Anne | Kjeldgaard Anette | Laska Magdalena | Raaschou-Nielsen Ole | Cold Søren | Overvad Kim | Tjønneland Anne | Bolund Lars | Børglum Anders
Volume: 9
Issue: 1
Year: 2008
Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

Author(s): Ramos-Lopez Elizabeth | Lange Britta | Kahles Heinrich | Willenberg Holger | Meyer Gesine | Penna-Martinez Marissa | Reisch Nicole | Hahner Stefanie | Seissler Jürgen | Badenhoop Klaus
Volume: 9
Issue: 1
Year: 2008
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

Author(s): Lin Shin-Yu | Su Yi-Ning | Hung Chia-Cheng | Tsay Woei | Chiou Shyh-Shin | Chang Chieh-Ting | Ho Hong-Nerng | Lee Chien-Nan
Volume: 9
Issue: 1
Year: 2008
Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis

Author(s): Tran Bich | Nguyen Nguyen | Eisman John | Nguyen Tuan
Volume: 9
Issue: 1
Year: 2008
Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies

Author(s): Kottgen Anna | Kao Wen | Hwang Shih-Jen | Boerwinkle Eric | Yang Qiong | Levy Daniel | Benjamin Emelia | Larson Martin | Astor Brad | Coresh Josef | Fox Caroline
Volume: 9
Issue: 1
Year: 2008
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

Author(s): Bramhall Naomi | Kallman Jeremy | Verrall Aimee | Street Valerie
Volume: 9
Issue: 1
Year: 2008
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Author(s): Christensen Lise | Madsen Bo | Wikman Friedrik | Wiuf Carsten | Koed Karen | Tjønneland Anne | Olsen Anja | Syvänen Ann-Christine | Andersen Claus | Ørntoft Torben
Volume: 9
Issue: 1
Year: 2008
Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

Author(s): Liu Guoqing | Inglis Julie | Cardy Amanda | Shaw Duncan | Sahota Sukhy | Hennekam Raoul | Sharp Linda | Miedzybrodzka Zosia
Volume: 9
Issue: 1
Year: 2008
The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

Author(s): Zhang Hong | Morrison Margaux | DeWan Andy | Adams Scott | Andreoli Michael | Huynh Nancy | Regan Maureen | Brown Alison | Miller Joan | Kim Ivana | Hoh Josephine | DeAngelis Margaret
Volume: 9
Issue: 1
Year: 2008
Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study

Author(s): Laramie Jason | Wilk Jemma | Williamson Sally | Nagle Michael | Latourelle Jeanne | Tobin Jennifer | Province Michael | Borecki Ingrid | Myers Richard
Volume: 9
Issue: 1
Year: 2008
New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Author(s): Pierron Denis | Rocher Christophe | Amati-Bonneau Patricia | Reynier Pascal | Martin-Négrier Marie-Laure | Allouche Stéphane | Batandier Cécile | de Camaret Benedicte | Godinot Catherine | Rotig Agnes | Feldmann Delphine | Bellanne-Chantelot Christine | Arveiler Benoit | Pennarun Erwann | Rossignol Rodrigue | Crouzet Marc | Murail Pascal | Thoraval Didier | Letellier Thierry
Volume: 9
Issue: 1
Year: 2008
The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

Author(s): Cauchi Stéphane | Nead Kevin | Choquet Hélène | Horber Fritz | Potoczna Natascha | Balkau Beverley | Marre Michel | Charpentier Guillaume | Froguel Philippe | Meyre David
Volume: 9
Issue: 1
Year: 2008
Distribution of the FYBES and RHCE*ce(733C>G) alleles in an Argentinean population: Implications for transfusion medicine

Author(s): Cotorruelo Carlos | Fiori Silvana | Borrás Silvia | Racca Liliana | Biondi Claudia | Racca Amelia
Volume: 9
Issue: 1
Year: 2008
Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

Author(s): Fujimoto Masaya | Imai Kohsuke | Hirata Kenji | Kashiwagi Reiichi | Morinishi Yoichi | Kitazawa Katsuhiko | Sasaki Sei | Arinami Tadao | Nonoyama Shigeaki | Noguchi Emiko
Volume: 9
Issue: 1
Year: 2008
Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction

Author(s): Andrikopoulos George | Grammatopoulos Dimitris | Tzeis Stylianos | Zervou Sevasti | Richter Dimitris | Zairis Michalis | Gialafos Elias | Sakellariou Dimitris | Foussas Stefanos | Manolis Antonis | Stefanadis Christodoulos | Toutouzas Pavlos | Hillhouse Edward
Volume: 9
Issue: 1
Year: 2008
Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population

Author(s): Ma Jun | Zhang Dongying | Brismar Kerstin | Efendic Suad | Gu Harvest
Volume: 9
Issue: 1
Year: 2008
Minisequencing mitochondrial DNA pathogenic mutations

Author(s): Álvarez-Iglesias Vanesa | Barros Francisco | Carracedo Ángel | Salas Antonio
Volume: 9
Issue: 1
Year: 2008
Genetic and functional association of FAM5C with myocardial infarction

Author(s): Connelly Jessica | Shah Svati | Doss Jennifer | Gadson Shera | Nelson Sarah | Crosslin David | Hale A Brent | Lou Xuemei | Wang Ty | Haynes Carol | Seo David | Crossman David | Mooser Vincent | Granger Christopher | Jones Christopher | Kraus William | Hauser Elizabeth | Gregory Simon
Volume: 9
Issue: 1
Year: 2008
Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese

Author(s): Song You-Qiang | Ho Daniel | Karppinen Jaro | Kao Patrick | Fan Bao-Jian | Luk Keith | Yip Shea-Ping | Leong John | Cheah Kathryn | Sham Pak | Chan Danny | Cheung Kenneth
Volume: 9
Issue: 1
Year: 2008
Association of limbic system-associated membrane protein (LSAMP) to male completed suicide

Author(s): Must Anne | Tasa Gunnar | Lang Aavo | Vasar Eero | Kõks Sulev | Maron Eduard | Väli Marika
Volume: 9
Issue: 1
Year: 2008
The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples

Author(s): Olsen Line | Hansen Thomas | Jakobsen Klaus | Djurovic Srdjan | Melle Ingrid | Agartz Ingrid | Hall Haakan | Ullum Henrik | Timm Sally | Wang August | Jönsson Erik | Andreassen Ole | Werge Thomas
Volume: 9
Issue: 1
Year: 2008
Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study)

Author(s): van Greevenbroek Marleen | Zhang Jian | Kallen Carla JH | Schiffers Paul | Feskens Edith | de Bruin Tjerk
Volume: 9
Issue: 1
Year: 2008
A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele

Author(s): Haasl Ryan | Ahmadi M Reza | Meethal Sivan | Gleason Carey | Johnson Sterling | Asthana Sanjay | Bowen Richard | Atwood Craig
Volume: 9
Issue: 1
Year: 2008
Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Author(s): Cuscó Ivon | del Campo Miguel | Vilardell Mireia | González Eva | Gener Blanca | Galán Enrique | Toledo Laura | Pérez-Jurado Luis
Volume: 9
Issue: 1
Year: 2008
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

Author(s): Patocs Attila | Gergics Peter | Balogh Katalin | Toth Miklos | Fazakas Ferenc | Liko Istvan | Racz Karoly
Volume: 9
Issue: 1
Year: 2008
Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease

Author(s): Bishop Matthew | Kovacs Gabor | Sanchez-Juan Pascual | Knight Richard
Volume: 9
Issue: 1
Year: 2008
SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

Author(s): Constantine Clare | Gurrin Lyle | McLaren Christine | Bahlo Melanie | Anderson Gregory | Vulpe Chris | Forrest Susan | Allen Katrina | Gertig Dorota
Volume: 9
Issue: 1
Year: 2008
Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

Author(s): Nellist Mark | Sancak Őzgür | Goedbloed Miriam | Adriaans Alwin | Wessels Marja | Maat-Kievit Anneke | Baars Marieke | Dommering Charlotte | van den Ouweland Ans | Halley Dicky
Volume: 9
Issue: 1
Year: 2008
Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol

Author(s): Kolz Melanie | Baumert Jens | Müller Martina | Khuseyinova Natalie | Klopp Norman | Thorand Barbara | Meisinger Christine | Herder Christian | Koenig Wolfgang | Illig Thomas
Volume: 9
Issue: 1
Year: 2008
Influence of leukotriene gene polymorphisms on chronic rhinosinusitis

Author(s): Al-Shemari Hasan | Bossé Yohan | Hudson Thomas | Cabaluna Myrna | Duval Melanie | Lemire Mathieu | Vallee-Smedja Sophie | Frenkiel Saul | Desrosiers Martin
Volume: 9
Issue: 1
Year: 2008
Genetic variability of histamine receptors in patients with Parkinson's disease

Author(s): García-Martín Elena | Ayuso P | Luengo Antonio | Martínez Carmen | Agúndez José
Volume: 9
Issue: 1
Year: 2008
Evaluating the association of common PBX1 variants with type 2 diabetes

Author(s): Duesing Konsta | Charpentier Guillaume | Marre Michel | Tichet Jean | Hercberg Serge | Balkau Beverley | Froguel Philippe | Gibson Fernando
Volume: 9
Issue: 1
Year: 2008
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

Author(s): Zhang Su | Yin Ke | Ren Xiang | Wang Pengyun | Zhang Shirong | Cheng Lingling | Yang Junguo | Liu Jing | Liu Mugen | Wang Qing
Volume: 9
Issue: 1
Year: 2008
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD

Author(s): Knowles Joshua | Assimes Themistocles | Boerwinkle Eric | Fortmann Stephen | Go Alan | Grove Megan | Hlatky Mark | Iribarren Carlos | Li Jun | Myers Richard | Risch Neil | Sidney Stephen | Southwick Audrey | Volcik Kelly | Quertermous Thomas
Volume: 9
Issue: 1
Year: 2008
Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population

Author(s): Yamaguchi Yuka | Moritani Maki | Tanahashi Toshihito | Osabe Dai | Nomura Kyoko | Fujita Yuka | Keshavarz Parvaneh | Kunika Kiyoshi | Nakamura Naoto | Yoshikawa Toshikazu | Ichiishi Eiichiro | Shiota Hiroshi | Yasui Natsuo | Inoue Hiroshi | Itakura Mitsuo
Volume: 9
Issue: 1
Year: 2008
Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission

Author(s): Arthur Ariel | Armati Patricia | Bye Chris | Heard Robert | Stewart Graeme | Pollard John | Booth David
Volume: 9
Issue: 1
Year: 2008
Genetic association study of synphilin-1 in idiopathic Parkinson's disease

Author(s): Myhre Ronny | Klungland Helge | Farrer Matthew | Aasly Jan
Volume: 9
Issue: 1
Year: 2008
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Author(s): Nicolaou Paschalis | Georghiou Anthi | Votsi Christina | Middleton Lefkos | Zamba-Papanicolaou Eleni | Christodoulou Kyproula
Volume: 9
Issue: 1
Year: 2008
N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study

Author(s): Juhanson Peeter | Kepp Katrin | Org Elin | Veldre Gudrun | Kelgo Piret | Rosenberg Mai | Viigimaa Margus | Laan Maris
Volume: 9
Issue: 1
Year: 2008
Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population

Author(s): Rees Simon | Bellary Srikanth | Britten Abigail | O'Hare J Paul | Kumar Sudhesh | Barnett Anthony | Kelly M Ann
Volume: 9
Issue: 1
Year: 2008
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Author(s): Lazzaro Maribeth | Todd Matthew | Lavigne Paul | Vallee Dominic | De Maria Adriana | Picketts David
Volume: 9
Issue: 1
Year: 2008
Multiple strand displacement amplification of mitochondrial DNA from clinical samples

Author(s): Maragh Samantha | Jakupciak John | Wagner Paul | Rom William | Sidransky David | Srivastava Sudhir | O'Connell Catherine
Volume: 9
Issue: 1
Year: 2008
Role of TGF-β1 haplotypes in the occurrence of myocardial infarction in young Italian patients

Author(s): Crobu Francesca | Palumbo Luigi | Franco Erica | Bergerone Serena | Carturan Sonia | Guarrera Simonetta | Frea Simone | Trevi Gianpaolo | Piazza Alberto | Matullo Giuseppe
Volume: 9
Issue: 1
Year: 2008
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity

Author(s): Fan Bao | Pasquale Louis | Grosskreutz Cynthia | Rhee Douglas | Chen Teresa | DeAngelis Margaret | Kim Ivana | del Bono Elizabeth | Miller Joan | Li Tiansen | Haines Jonathan | Wiggs Janey
Volume: 9
Issue: 1
Year: 2008
No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins

Author(s): Haworth Claire | Butcher Lee | Docherty Sophia | Wardle Jane | Plomin Robert
Volume: 9
Issue: 1
Year: 2008
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay

Author(s): Cukjati Marko | Vaupotič Tomaž | Rupreht Ruth | Čurin-Šerbec Vladka
Volume: 8
Issue: 1
Year: 2007
FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs

Author(s): Price R Arlen | Li Wei-Dong | Zhao Hongyu
Volume: 9
Issue: 1
Year: 2008
Complex aetiology of an apparently Mendelian form of Mental Retardation

Author(s): Beleza-Meireles Ana | Kockum Ingrid | Yuan Qiu-Ping | Picelli Simone | Wetterberg Lennart | Gustavson Karl-Henrik | Schalling Martin
Volume: 9
Issue: 1
Year: 2008
Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

Author(s): Pitzalis Maristella | Zavattari Patrizia | Murru Raffaele | Deidda Elisabetta | Zoledziewska Magdalena | Murru Daniela | Moi Loredana | Motzo Costantino | Orrù Valeria | Costa Gianna | Solla Elisabetta | Fadda Elisabetta | Schirru Lucia | Melis Maria | Lai Marina | Mancosu Cristina | Tranquilli Stefania | Cuccu Stefania | Rolesu Marcella | Secci Maria | Corongiu Daniela | Contu Daniela | Lampis Rosanna | Nucaro Annalisa | Pala Gavino | Pacifico Adolfo | Maioli Mario | Frongia Paola | Chessa Margherita | Ricciardi Rossella | Lostia Stanislao | Marinaro Anna | Milia Anna | Landis Novella | Zedda Maria | Whalen Michael | Santoni Federico | Marrosu Maria | Devoto Marcella | Cucca Francesco
Volume: 9
Issue: 1
Year: 2008
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

Author(s): Sweeten Thayne | Odell Daniel | Odell J Dennis | Torres Anthony
Volume: 9
Issue: 1
Year: 2008
The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans

Author(s): Grewal RP | Dutra AVC | Liao Yi | Juo Ss | Papamitsakis NIH
Volume: 8
Issue: 1
Year: 2007
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Author(s): Ballana Ester | Mercader Josep | Fischel-Ghodsian Nathan | Estivill Xavier
Volume: 8
Issue: 1
Year: 2007
No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease

Author(s): Sánchez-Juan Pascual | Bishop Matthew | Green Alison | Giannattasio Claudia | Arias-Vasquez Alejandro | Poleggi Anna | Knight Richard | van Duijn Cornelia
Volume: 8
Issue: 1
Year: 2007
Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study

Author(s): Nilsson Maria | Dahlman Ingrid | Jiao Hong | Gustafsson Jan-Åke | Arner Peter | Dahlman-Wright Karin
Volume: 8
Issue: 1
Year: 2007
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Author(s): Tang Shaohua | Xu Qiyu | Xu Xueqin | Du Jicheng | Yang Xuemei | Jiang Yusheng | Wang Xiaoqin | Speck Nancy | Huang Taosheng
Volume: 8
Issue: 1
Year: 2007
Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample

Author(s): Pollex Rebecca | Ban Matthew | Young T Kue | Bjerregaard Peter | Anand Sonia | Yusuf Salim | Zinman Bernard | Harris Stewart | Hanley Anthony | Connelly Philip | Huff Murray | Hegele Robert
Volume: 8
Issue: 1
Year: 2007
CD209 in inflammatory bowel disease: a case-control study in the Spanish population

Author(s): Núñez Concepción | Oliver Javier | Mendoza Juan | Gómez-García María | Taxonera Carlos | Gómez Luis | López-Nevot Miguel | de la Concha Emilio | Urcelay Elena | Martínez Alfonso | Martín Javier
Volume: 8
Issue: 1
Year: 2007
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

Author(s): Dastani Zari | Ruel Isabelle | Engert James | Genest Jacques | Marcil Michel
Volume: 8
Issue: 1
Year: 2007
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

Author(s): Buxbaum Joseph | Cai Guiqing | Nygren Gudrun | Chaste Pauline | Delorme Richard | Goldsmith Juliet | Råstam Maria | Silverman Jeremy | Hollander Eric | Gillberg Christopher | Leboyer Marion | Betancur Catalina
Volume: 8
Issue: 1
Year: 2007
The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes

Author(s): Cooper Jason | Smyth Deborah | Bailey Rebecca | Payne Felicity | Downes Kate | Godfrey Lisa | Masters Jennifer | Zeitels Lauren | Vella Adrian | Walker Neil | Todd John
Volume: 8
Issue: 1
Year: 2007
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort

Author(s): Lee Sulggi | Haiman Christopher | Burtt Noel | Pooler Loreall | Cheng Iona | Kolonel Laurence | Pike Malcolm | Altshuler David | Hirschhorn Joel | Henderson Brian | Stram Daniel
Volume: 8
Issue: 1
Year: 2007
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype

Author(s): Kim Kyung-Seon | Kim Ghi-Su | Hwang Joo-Yeon | Lee Hye-Ja | Park Mi-Hyun | Kim Kwang-joong | Jung Jongsun | Cha Hyo-Soung | Shin Hyoung | Kang Jong-Ho | Park Eui | Kim Tae-Ho | Hong Jung-Min | Koh Jung-Min | Oh Bermseok | Kimm Kuchan | Kim Shin-Yoon | Lee Jong-Young
Volume: 8
Issue: 1
Year: 2007
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

Author(s): Philippi Anne | Tores Frédéric | Carayol Jérome | Rousseau Francis | Letexier Mélanie | Roschmann Elke | Lindenbaum Pierre | Benajjou Abdel | Fontaine Karine | Vazart Céline | Gesnouin Philippe | Brooks Peter | Hager Jörg
Volume: 8
Issue: 1
Year: 2007
CADASIL in Arabs: clinical and genetic findings

Author(s): Bohlega Saeed | Al Shubili Asmahan | Edris Abdulrahman | Alreshaid Abdulrahman | AlKhairallah Thamer | AlSous M Walid | Farah Samir | Abu-Amero Khaled
Volume: 8
Issue: 1
Year: 2007
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Author(s): Beffagna Giorgia | De Bortoli Marzia | Nava Andrea | Salamon Michela | Lorenzon Alessandra | Zaccolo Manuela | Mancuso Luisa | Sigalotti Luca | Bauce Barbara | Occhi Gianluca | Basso Cristina | Lanfranchi Gerolamo | Towbin Jeffrey | Thiene Gaetano | Danieli Gian | Rampazzo Alessandra
Volume: 8
Issue: 1
Year: 2007
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

Author(s): Gosso Florencia | de Geus Eco | Polderman Tinca | Boomsma Dorret | Posthuma Danielle | Heutink Peter
Volume: 8
Issue: 1
Year: 2007
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

Author(s): Chandler Randy | Sloan Jennifer | Fu Hong | Tsai Matthew | Stabler Sally | Allen Robert | Kaestner Klaus | Kazazian Haig | Venditti Charles
Volume: 8
Issue: 1
Year: 2007
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

Author(s): Cavallari Ugo | Trabetti Elisabetta | Malerba Giovanni | Biscuola Michele | Girelli Domenico | Olivieri Oliviero | Martinelli Nicola | Angiolillo Dominick | Corrocher Roberto | Pignatti Pier
Volume: 8
Issue: 1
Year: 2007
Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension

Author(s): Kardia Sharon | Sun Yan | Hamon Sara | Barkley Ruth | Boerwinkle Eric | Turner Stephen
Volume: 8
Issue: 1
Year: 2007
Association analysis of chromosome 1 migraine candidate genes

Author(s): Fernandez Francesca | Curtain Robert | Colson Natalie | Ovcaric Micky | MacMillan John | Griffiths Lyn
Volume: 8
Issue: 1
Year: 2007
PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males

Author(s): Uthurralt Julieta | Gordish-Dressman Heather | Bradbury Meg | Tesi-Rocha Carolina | Devaney Joseph | Harmon Brennan | Reeves Erica | Brandoli Cinzia | Hansen Barbara | Seip Richard | Thompson Paul | Price Thomas | Angelopoulos Theodore | Clarkson Priscilla | Moyna Niall | Pescatello Linda | Visich Paul | Zoeller Robert | Gordon Paul | Hoffman Eric
Volume: 8
Issue: 1
Year: 2007
Analysis of KLF transcription factor family gene variants in type 2 diabetes

Author(s): Gutiérrez-Aguilar Ruth | Benmezroua Yamina | Vaillant Emmanuel | Balkau Beverley | Marre Michel | Charpentier Guillaume | Sladek Rob | Froguel Philippe | Neve Bernadette
Volume: 8
Issue: 1
Year: 2007
A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

Author(s): Zhang Xianqin | Chen Lanying | Liu Jingyu | Zhao Zhen | Qu Erjun | Wang Xiaotao | Chang Wei | Xu Chengqi | Wang Qing | Liu Mugen
Volume: 8
Issue: 1
Year: 2007
The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol

Author(s): Tang Xun | Hu Yonghua | Chen Dafang | Zhan Siyan | Zhang Zongxin | Dou Huidong
Volume: 8
Issue: 1
Year: 2007
Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene

Author(s): Del Mastro Richard | Turenne Laura | Giese Heidi | Keith Tim | Van Eerdewegh Paul | May Klaus | Little Randall
Volume: 8
Issue: 1
Year: 2007
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population

Author(s): Santiago Jose | Martínez Alfonso | de la Calle Hermenegildo | Fernández-Arquero Miguel | Figueredo M Ángeles | de la Concha Emilio | Urcelay Elena
Volume: 8
Issue: 1
Year: 2007
Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations

Author(s): Ruixing Yin | Guangqin Chen | Yong Wang | Weixiong Lin | Dezhai Yang | Shangling Pan
Volume: 8
Issue: 1
Year: 2007
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

Author(s): Nielsen Maartje | Hes Frederik | Vasen Hans | van den Hout Wilbert
Volume: 8
Issue: 1
Year: 2007
Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1

Author(s): Kepp Katrin | Juhanson Peeter | Kozich Viktor | Ots Mai | Viigimaa Margus | Laan Maris
Volume: 8
Issue: 1
Year: 2007
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

Author(s): Kaushal Ritesh | Woo Daniel | Pal Prodipto | Haverbusch Mary | Xi Huifeng | Moomaw Charles | Sekar Padmini | Kissela Brett | Kleindorfer Dawn | Flaherty Matthew | Sauerbeck Laura | Chakraborty Ranajit | Broderick Joseph | Deka Ranjan
Volume: 8
Issue: 1
Year: 2007
Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging

Author(s): Chu Michelle | Siegmund Kimberly | Eckstam Carrie | Kim Jung | Yang Allen | Kanel Gary | Tavaré Simon | Shibata Darryl
Volume: 8
Issue: 1
Year: 2007
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Author(s): Kumar Ravinesh | Everman David | Morgan Chad | Slavotinek Anne | Schwartz Charles | Simpson Elizabeth
Volume: 8
Issue: 1
Year: 2007
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

Author(s): Pattaro Cristian | Marroni Fabio | Riegler Alice | Mascalzoni Deborah | Pichler Irene | Volpato Claudia | Dal Cero Umberta | De Grandi Alessandro | Egger Clemens | Eisendle Agatha | Fuchsberger Christian | Gögele Martin | Pedrotti Sara | Pinggera Gerd | Stefanov Stefan | Vogl Florian | Wiedermann Christian | Meitinger Thomas | Pramstaller Peter
Volume: 8
Issue: 1
Year: 2007
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

Author(s): Filippini Sandra | Blanco Ana | Fernández-Marmiesse Ana | Álvarez-Iglesias Vanesa | Ruíz-Ponte Clara | Carracedo Ángel | Vega Ana
Volume: 8
Issue: 1
Year: 2007
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina

Author(s): Gomez Laura | Real Sebastián | Ojeda Marta | Gimenez Sergio | Mayorga Luis | Roqué María
Volume: 8
Issue: 1
Year: 2007
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

Author(s): Aartsma-Rus Annemieke | Janson Anneke | van Ommen Gert-Jan | van Deutekom Judith
Volume: 8
Issue: 1
Year: 2007
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets

Author(s): Jordan ChaRandle | Li Hong Hua | Kwan Helen | Francke Uta
Volume: 8
Issue: 1
Year: 2007
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

Author(s): Reamon-Buettner Stella | Cho Si-Hyen | Borlak Juergen
Volume: 8
Issue: 1
Year: 2007
The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease

Author(s): Abu-Amero Khaled | Al-Mohanna Futwan | Al-Boudari Olayan | Mohamed Gamal | Dzimiri Nduna
Volume: 8
Issue: 1
Year: 2007
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity

Author(s): Bouatia-Naji Nabila | Vatin Vincent | Lecoeur Cécile | Heude Barbara | Proença Christine | Veslot Jacques | Jouret Béatrice | Tichet Jean | Charpentier Guillaume | Marre Michel | Balkau Beverley | Froguel Philippe | Meyre David
Volume: 8
Issue: 1
Year: 2007
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile

Author(s): Pasdar Alireza | Yadegarfar Ghasem | Cumming Alastair | Whalley Lawrence | St Clair David | MacLeod Mary-Joan
Volume: 8
Issue: 1
Year: 2007
Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma

Author(s): Mahid Suhal | Colliver Daniel | Crawford Nigel | Martini Benjamin | Doll Mark | Hein David | Cobbs Gary | Petras Robert | Galandiuk Susan
Volume: 8
Issue: 1
Year: 2007
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

Author(s): Vasickova Petra | Machackova Eva | Lukesova Miroslava | Damborsky Jiri | Horky Ondrej | Pavlu Hana | Kuklova Jitka | Kosinova Veronika | Navratilova Marie | Foretova Lenka
Volume: 8
Issue: 1
Year: 2007
The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study

Author(s): Hagen Knut | Stovner Lars | Skorpen Frank | Pettersen Elin | Zwart John-Anker
Volume: 8
Issue: 1
Year: 2007
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis

Author(s): Lindner Ewald | Nordang Gry | Melum Espen | Flatø Berit | Selvaag Anne | Thorsby Erik | Kvien Tore | Førre Øystein | Lie Benedicte
Volume: 8
Issue: 1
Year: 2007
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes

Author(s): Chandler Randy | Tsai Matthew | Dorko Kenneth | Sloan Jennifer | Korson Mark | Freeman Richard | Strom Stephen | Venditti Charles
Volume: 8
Issue: 1
Year: 2007
Large genomic rearrangements in the CFTR gene contribute to CBAVD

Author(s): Taulan Magali | Girardet Anne | Guittard Caroline | Altieri Jean-Pierre | Templin Carine | Beroud Christophe | des Georges Marie | Claustres Mireille
Volume: 8
Issue: 1
Year: 2007
Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age

Author(s): Franco Erica | Palumbo Luigi | Crobu Francesca | Anselmino Matteo | Frea Simone | Matullo Giuseppe | Piazza Alberto | Trevi Gian | Bergerone Serena
Volume: 8
Issue: 1
Year: 2007
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment

Author(s): Tsai Hsun-Tien | Wang Ying-Piao | Chung Shing-Fang | Lin Hung-Ching | Ho Guan-Min | Shu Min-Tsan
Volume: 8
Issue: 1
Year: 2007
Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents

Author(s): Hölter Katja | Wermter Anne-Kathrin | Scherag André | Siegfried Wolfgang | Goldschmidt Hanspeter | Hebebrand Johannes | Hinney Anke
Volume: 8
Issue: 1
Year: 2007
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

Author(s): Laperuta Carmela | Spizzichino Letizia | D'Adamo Pio | Monfregola Jlenia | Maiorino Antonio | D'Eustacchio Angela | Ventruto Valerio | Neri Giovanni | D'Urso Michele | Chiurazzi Pietro | Ursini Matilde | Miano Maria
Volume: 8
Issue: 1
Year: 2007
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1

Author(s): Sacco Roberto | Papaleo Veruska | Hager Jorg | Rousseau Francis | Moessner Rainald | Militerni Roberto | Bravaccio Carmela | Trillo Simona | Schneider Cindy | Melmed Raun | Elia Maurizio | Curatolo Paolo | Manzi Barbara | Pascucci Tiziana | Puglisi-Allegra Stefano | Reichelt Karl-Ludvig | Persico Antonio
Volume: 8
Issue: 1
Year: 2007
Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians

Author(s): Prasad Pushplata | Tiwari Arun | Kumar KM Prasanna | Ammini AC | Gupta Arvind | Gupta Rajeev | Thelma BK
Volume: 8
Issue: 1
Year: 2007
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

Author(s): Stekrova Jitka | Sulova Martina | Kebrdlova Vera | Zidkova Katerina | Kotlas Jaroslav | Ilencikova Denisa | Vesela Kamila | Kohoutova Milada
Volume: 8
Issue: 1
Year: 2007
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

Author(s): Torres-Juan Laura | Rosell Jordi | Sánchez-de-la-Torre Manuel | Fibla Joan | Heine-Suñer Damià
Volume: 8
Issue: 1
Year: 2007
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Author(s): Nishiyama Atsushi | Takeshima Yasuhiro | Saiki Kayoko | Narukage Akiko | Oyazato Yoshinobu | Yagi Mariko | Matsuo Masafumi
Volume: 8
Issue: 1
Year: 2007
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

Author(s): Rossi Monica | Ricci Enzo | Colantoni Luca | Galluzzi Giuliana | Frusciante Roberto | Tonali Pietro | Felicetti Luciano
Volume: 8
Issue: 1
Year: 2007
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Author(s): Ahn Joo Wook | Mackie Ogilvie Caroline | Welch Alysia | Thomas Helen | Madula Rajiv | Hills Alison | Donaghue Celia | Mann Kathy
Volume: 8
Issue: 1
Year: 2007
Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma

Author(s): Cotignola Javier | Reva Boris | Mitra Nandita | Ishill Nicole | Chuai Shaokun | Patel Ami | Shah Shivang | Vanderbeek Gretchen | Coit Daniel | Busam Klaus | Halpern Allan | Houghton Alan | Sander Chris | Berwick Marianne | Orlow Irene
Volume: 8
Issue: 1
Year: 2007
Association between CFL1 gene polymorphisms and spina bifida risk in a California population

Author(s): Zhu Huiping | Enaw James | Ma Chen | Shaw Gary | Lammer Edward | Finnell Richard
Volume: 8
Issue: 1
Year: 2007
Functional analysis of splicing mutations in exon 7 of NF1 gene

Author(s): Bottillo Irene | De Luca Alessandro | Schirinzi Annalisa | Guida Valentina | Torrente Isabella | Calvieri Stefano | Gervasini Cristina | Larizza Lidia | Pizzuti Antonio | Dallapiccola Bruno
Volume: 8
Issue: 1
Year: 2007
CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden

Author(s): Mayans Sofia | Lackovic Kurt | Nyholm Caroline | Lindgren Petter | Ruikka Karin | Eliasson Mats | Cilio Corrado | Holmberg Dan
Volume: 8
Issue: 1
Year: 2007
Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

Author(s): McKnight Amy | Savage David | Patterson Chris | Sadlier Denise | Maxwell A Peter
Volume: 8
Issue: 1
Year: 2007
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

Author(s): Sáez María | Martínez-Larrad María | Ramírez-Lorca Reposo | González-Sánchez José | Zabena Carina | Martinez-Calatrava María | González Alejandro | Morón Francisco | Ruiz Agustín | Serrano-Ríos Manuel
Volume: 8
Issue: 1
Year: 2007
Transient trimethylaminuria related to menstruation

Author(s): Shimizu Makiko | Cashman John | Yamazaki Hiroshi
Volume: 8
Issue: 1
Year: 2007
Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

Author(s): Al-Sayed Moeenaldeen | Imtiaz Faiqa | Alsmadi Osama | Rashed Mohammed | Meyer Brian
Volume: 7
Issue: 1
Year: 2006
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families

Author(s): Hall Darroch | Rahman Thahira | Avery Peter | Keavney Bernard
Volume: 7
Issue: 1
Year: 2006
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

Author(s): Pinelli Michele | Giacchetti Manuela | Acquaviva Fabio | Cocozza Sergio | Donnarumma Giovanna | Lapice Emanuela | Riccardi Gabriele | Romano Geremia | Vaccaro Olga | Monticelli Antonella
Volume: 7
Issue: 1
Year: 2006
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke

Author(s): Dutra Ana | Lin Hsiu-Fen | Juo Suh-Hang | Mohrenweiser Harvey | Sen Souvik | Grewal Raji
Volume: 7
Issue: 1
Year: 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Author(s): Bentivegna Angela | Milani Donatella | Gervasini Cristina | Castronovo Paola | Mottadelli Federica | Manzini Stefano | Colapietro Patrizia | Giordano Lucio | Atzeri Francesca | Divizia Maria | Uzielli Maria | Neri Giovanni | Bedeschi Maria | Faravelli Francesca | Selicorni Angelo | Larizza Lidia
Volume: 7
Issue: 1
Year: 2006
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Author(s): Li Jian-Liang | Hayden Michael | Warby Simon | Durr Alexandra | Morrison Patrick | Nance Martha | Ross Christopher | Margolis Russell | Rosenblatt Adam | Squitieri Ferdinando | Frati Luigi | Gómez-Tortosa Estrella | García Carmen | Suchowersky Oksana | Klimek Mary | Trent Ronald | McCusker Elizabeth | Novelletto Andrea | Frontali Marina | Paulsen Jane | Jones Randi | Ashizawa Tetsuo | Lazzarini Alice | Wheeler Vanessa | Prakash Ranjana | Xu Gang | Djoussé Luc | Mysore Jayalakshmi | Gillis Tammy | Hakky Michael | Cupples L Adrienne | Saint-Hilaire Marie | Cha Jang-Ho | Hersch Steven | Penney John | Harrison Madaline | Perlman Susan | Zanko Andrea | Abramson Ruth | Lechich Anthony | Duckett Ayana | Marder Karen | Conneally P Michael | Gusella James | MacDonald Marcy | Myers Richard
Volume: 7
Issue: 1
Year: 2006
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

Author(s): Hung Chia-Cheng | Su Yi-Ning | Chien Shu-Chin | Liou Horng-Huei | Chen Chih-Chuan | Chen Pau-Chung | Hsieh Chia-Jung | Chen Chih-Ping | Lee Wang-Tso | Lin Win-Li | Lee Chien-Nan
Volume: 7
Issue: 1
Year: 2006
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability

Author(s): Smith Blair | Campbell Harry | Blackwood Douglas | Connell John | Connor Mike | Deary Ian | Dominiczak Anna | Fitzpatrick Bridie | Ford Ian | Jackson Cathy | Haddow Gillian | Kerr Shona | Lindsay Robert | McGilchrist Mark | Morton Robin | Murray Graeme | Palmer Colin | Pell Jill | Ralston Stuart | St Clair David | Sullivan Frank | Watt Graham | Wolf Roland | Wright Alan | Porteous David | Morris Andrew
Volume: 7
Issue: 1
Year: 2006
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients

Author(s): Thakur Nikita | Reddy D | Rao G | Mohankrishna P | Singh Lalji | Chandak Giriraj
Volume: 7
Issue: 1
Year: 2006
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India

Author(s): Saxena Sunita | Chakraborty Anurupa | Kaushal Mishi | Kotwal Sanjeev | Bhatanager Dinesh | Mohil Ravindar | Chintamani Chintamani | Aggarwal Anil | Sharma Veena | Sharma Prakash | Lenoir Gilbert | Goldgar David | Szabo Csilla
Volume: 7
Issue: 1
Year: 2006
Three allele combinations associated with Multiple Sclerosis

Author(s): Favorova Olga | Favorov Alexander | Boiko Alexey | Andreewski Timofey | Sudomoina Marina | Alekseenkov Alexey | Kulakova Olga | Gusev Eugenyi | Parmigiani Giovanni | Ochs Michael
Volume: 7
Issue: 1
Year: 2006
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma

Author(s): Pettigrew Melinda | Gent Janneane | Zhu Yong | Triche Elizabeth | Belanger Kathleen | Holford Theodore | Bracken Michael | Leaderer Brian
Volume: 7
Issue: 1
Year: 2006
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

Author(s): Brown Justin | Lahey Cora | Laosinchai-Wolf Walairat | Hadd Andrew
Volume: 7
Issue: 1
Year: 2006
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study

Author(s): Ogata Toru | Gregoire Lucie | Goddard Katrina | Skunca Magdalena | Tromp Gerard | Lancaster Wayne | Parrado Antonio | Lu Qing | Shibamura Hidenori | Sakalihasan Natzi | Limet Raymond | MacKean Gerald | Arthur Claudette | Sueda Taijiro | Kuivaniemi Helena
Volume: 7
Issue: 1
Year: 2006
β3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)

Author(s): Wang Claire | Nguyen Nguyen | Morrison Nigel | Eisman John | Center Jacqueline | Nguyen Tuan
Volume: 7
Issue: 1
Year: 2006
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

Author(s): Delgado Ivan | Kim Dong | Thatcher Karen | LaSalle Janine | Van den Veyver Ignatia
Volume: 7
Issue: 1
Year: 2006
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population

Author(s): Cheyssac Claire | Lecoeur Cécile | Dechaume Aurélie | Bibi Amina | Charpentier Guillaume | Balkau Beverley | Marre Michel | Froguel Philippe | Gibson Fernando | Vaxillaire Martine
Volume: 7
Issue: 1
Year: 2006
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study

Author(s): Ortiz Javier | Fernández-Arquero Miguel | Urcelay Elena | López-Mejías Raquel | Ferreira Antonio | Fontán Gumersindo | de la Concha Emilio | Martínez Alfonso
Volume: 7
Issue: 1
Year: 2006
Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3

Author(s): Christensen Greg | Ivanov Ivaylo | Wooding Stephen | Atkins John | Mielnik Anna | Schlegel Peter | Carrell Douglas
Volume: 7
Issue: 1
Year: 2006
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients

Author(s): Borlak Juergen | Reamon-Buettner Stella
Volume: 7
Issue: 1
Year: 2006
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians

Author(s): Freathy Rachel | Weedon Michael | Melzer David | Shields Beverley | Hitman Graham | Walker Mark | McCarthy Mark | Hattersley Andrew | Frayling Timothy
Volume: 7
Issue: 1
Year: 2006
Familial deletion 18p syndrome: case report

Author(s): Maranda Bruno | Lemieux Nicole | Lemyre Emmanuelle
Volume: 7
Issue: 1
Year: 2006
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians

Author(s): Bugeja Matthew | Booth David | Bennetts Bruce | Heard Robert | Rubio Justin | Stewart Graeme
Volume: 7
Issue: 1
Year: 2006
Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

Author(s): Horan Paul | Allen Adrian | Hughes Anne | Patterson Chris | Spence Mark | McGlinchey Paul | Belton Christine | Jardine Tracy | McKeown Pascal
Volume: 7
Issue: 1
Year: 2006
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

Author(s): Maciolek Nicole | Alward Wallace | Murray Jeffrey | Semina Elena | McNally Mark
Volume: 7
Issue: 1
Year: 2006
E-selectin S128R polymorphism and severe coronary artery disease in Arabs

Author(s): Abu-Amero Khaled | Al-Boudari Olayan | Mohamed Gamal | Dzimiri Nduna
Volume: 7
Issue: 1
Year: 2006
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3

Author(s): Chowdhury Mahboob | Kuivaniemi Helena | Romero Roberto | Edwin Samuel | Chaiworapongsa Tinnakorn | Tromp Gerard
Volume: 7
Issue: 1
Year: 2006
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection

Author(s): Natividad Angels | Cooke Graham | Holland Martin | Burton Matthew | Joof Hassan | Rockett Kirk | Kwiatkowski Dominic | Mabey David | Bailey Robin
Volume: 7
Issue: 1
Year: 2006
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study

Author(s): Santiago Jose | Martínez Alfonso | de la Calle Hermenegildo | Fernández-Arquero Miguel | Figueredo M Ángeles | de la Concha Emilio | Urcelay Elena
Volume: 7
Issue: 1
Year: 2006
BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

Author(s): Kimberley Kendra | Morris Colleen | Hobart Holly
Volume: 7
Issue: 1
Year: 2006
Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5

Author(s): Soler Júlia | Pereira Alexandre | Tôrres César | Krieger José
Volume: 7
Issue: 1
Year: 2006
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

Author(s): Nissen Peter | Damgaard Dorte | Stenderup Anette | Nielsen Gitte | Larsen Mogens | Færgeman Ole
Volume: 7
Issue: 1
Year: 2006
Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms

Author(s): Prasad Pushplata | Tiwari Arun | Kumar KM Prasanna | Ammini AC | Gupta Arvind | Gupta Rajeev | Sharma AK | Rao AR | Nagendra R | Chandra T Satish | Tiwari SC | Rastogi Priyanka | Gupta B Lal | Thelma BK
Volume: 7
Issue: 1
Year: 2006
Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies

Author(s): Vidal-Taboada Jose | Cucala Mercedes | Mas Herrero Sergio | Lafuente Amalia | Cobos Albert
Volume: 7
Issue: 1
Year: 2006
The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease

Author(s): Abu-Amero Khaled | Al-Boudari Olayan | Mohamed Gamal | Dzimiri Nduna
Volume: 7
Issue: 1
Year: 2006
Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity

Author(s): Marti Amelia | Ochoa M Carmen | Sánchez-Villegas Almudena | Martínez J Alfredo | Martínez-González Miguel | Hebebrand Johannes | Hinney Anke | Vedder Helmut
Volume: 7
Issue: 1
Year: 2006
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism

Author(s): Lin Ta-Chin | Yen Jui-Mei | Gong Kum-Bing | Kuo Tsung-Cheng | Ku Dong-Chi | Liang Shu-Fen | Wu Ming-Jiuan
Volume: 7
Issue: 1
Year: 2006
GAIA: An easy-to-use web-based application for interaction analysis of case-control data

Author(s): Macgregor Stuart | Khan Imtiaz
Volume: 7
Issue: 1
Year: 2006
Interleukin-10 haplotypes in Celiac Disease in the Spanish population

Author(s): Núñez Concepción | Alecsandru Diana | Varadé Jezabel | Polanco Isabel | Maluenda Carlos | Fernández-Arquero Miguel | de la Concha Emilio | Urcelay Elena | Martínez Alfonso
Volume: 7
Issue: 1
Year: 2006
Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families – a public health perspective

Author(s): Merlo Juan | Bengtsson-Boström Kristina | Lindblad Ulf | Råstam Lennart | Melander Olle
Volume: 7
Issue: 1
Year: 2006
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

Author(s): Sánchez Elena | Sabio José | Callejas José | de Ramón Enrique | Garcia-Portales Rosa | García-Hernández Francisco | Jiménez-Alonso Juan | González-Escribano Ma Francisca | Martín Javier | Koeleman Bobby
Volume: 7
Issue: 1
Year: 2006
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

Author(s): Alsmadi Osama | Al-Kayal Fadi | Al-Hamed Mohamed | Meyer Brian
Volume: 7
Issue: 1
Year: 2006
Eight previously unidentified mutations found in the OA1 ocular albinism gene

Author(s): Mayeur Hélène | Roche Olivier | Vêtu Christelle | Jaliffa Carolina | Marchant Dominique | Dollfus Hélène | Bonneau Dominique | Munier Francis | Schorderet Daniel | Levin Alex | Héon Elise | Sutherland Joanne | Lacombe Didier | Said Edith | Mezer Eedy | Kaplan Josseline | Dufier Jean-Louis | Marsac Cécile | Menasche Maurice | Abitbol Marc
Volume: 7
Issue: 1
Year: 2006
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

Author(s): McCauley Jacob | Hahs Daniel | Jiang Lan | Scott William | Welsh-Bohmer Kathleen | Jackson Charles | Vance Jeffery | Pericak-Vance Margaret | Haines Jonathan
Volume: 7
Issue: 1
Year: 2006
Production and characterization of murine models of classic and intermediate maple syrup urine disease

Author(s): Homanics Gregg | Skvorak Kristen | Ferguson Carolyn | Watkins Simon | Paul Harbhajan
Volume: 7
Issue: 1
Year: 2006
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease

Author(s): Borlak Juergen | Reamon-Buettner Stella Marie
Volume: 7
Issue: 1
Year: 2006
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Author(s): Gamundi María | Hernan Imma | Martínez-Gimeno María | Maseras Miquel | García-Sandoval Blanca | Ayuso Carmen | Antiñolo Guillermo | Baiget Montserrat | Carballo Miguel
Volume: 7
Issue: 1
Year: 2006
Deletions in the Y-derived amelogenin gene fragment in the Indian population

Author(s): Kashyap VK | Sahoo Sanghamitra | Sitalaximi T | Trivedi R
Volume: 7
Issue: 1
Year: 2006
T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking

Author(s): Abu-Amero Khaled | Al-Boudari Olayan | Mohamed Gamal | Dzimiri Nduna
Volume: 7
Issue: 1
Year: 2006
A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study

Author(s): Asselbergs Folkert | Moore Jason | van den Berg Maarten | Rimm Eric | de Boer Rudolf | Dullaart Robin | Navis Gerjan | van Gilst Wiek
Volume: 7
Issue: 1
Year: 2006
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families

Author(s): Oros Kathleen | Leblanc Guy | Arcand Suzanna | Shen Zhen | Perret Chantal | Mes-Masson Anne-Marie | Foulkes William | Ghadirian Parviz | Provencher Diane | Tonin Patricia
Volume: 7
Issue: 1
Year: 2006
No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility

Author(s): Colson Natalie | Lea Rod | Quinlan Sharon | Griffiths Lyn
Volume: 7
Issue: 1
Year: 2006
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