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BMC Medical Genetics

ISSN: 1471--2350
Publisher: BioMed Central


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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
Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis

Author(s): Ramagopalan Sreeram | Dyment David | Morrison Katie | Herrera Blanca | DeLuca Gabriele | Lincoln Matthew | Orton Sarah | Handunnetthi Lahiru | Chao Michael | Sadovnick A Dessa | Ebers George
Volume: 9
Issue: 1
Year: 2008
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

Author(s): Yoo Jong-Ha | Yoo Jee-Hyoung | Choi Yoon-Jung | Kang Jung-Gu | Sun Young-Kyu | Ki Chang-Seok | Lee Kyung-A | Choi Jong-Rak
Volume: 9
Issue: 1
Year: 2008
The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides

Author(s): Dallongeville Jean | Cottel Dominique | Wagner Aline | Ducimetière Pierre | Ruidavets Jean-Bernard | Arveiler Dominique | Bingham Annie | Ferrières Jean | Amouyel Philippe | Meirhaeghe Aline
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
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
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
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
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
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
Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population

Author(s): Zhang Fuquan | Xu Yong | Liu Pozi | Fan Hua | Huang Xuezhu | Sun Gaoxiang | Song Yuqing | Sham Pak
Volume: 9
Issue: 1
Year: 2008
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

Author(s): Ulucan Hakan | Gül Davut | Sapp Julie | Cockerham John | Johnston Jennifer | Biesecker Leslie
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
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
TCF7L2 variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population

Author(s): Marquezine GF | Pereira AC | Sousa AGP | Mill JG | Hueb WA | Krieger JE
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
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
Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

Author(s): van Vliet Laura | de Winter Christa | van Deutekom Judith | van Ommen Gert-Jan | Aartsma-Rus Annemieke
Volume: 9
Issue: 1
Year: 2008
Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study

Author(s): de Oliveira Camila | Pereira Alexandre | de Andrade Mariza | Soler Júlia | Krieger José
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
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
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
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
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
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
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
SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention – the TULIP Study

Author(s): Weyrich Peter | Machicao Fausto | Reinhardt Julia | Machann Jürgen | Schick Fritz | Tschritter Otto | Stefan Norbert | Fritsche Andreas | Häring Hans-Ulrich
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
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
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
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
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families

Author(s): Peric Barbara | Cerkovnik Petra | Novakovic Srdjan | Zgajnar Janez | Besic Nikola | Hocevar Marko
Volume: 9
Issue: 1
Year: 2008
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis

Author(s): Cruz Eugénia | Whittington Chris | Krikler Samuel | Mascarenhas Cláudia | Lacerda Rosa | Vieira Jorge | Porto Graça
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
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
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
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Author(s): Fernandez Francesca | Esposito Teresa | Lea Rod | Colson Natalie | Ciccodicola Alfredo | Gianfrancesco Fernando | Griffiths Lyn
Volume: 9
Issue: 1
Year: 2008
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

Author(s): Ehlermann Philipp | Weichenhan Dieter | Zehelein Jörg | Steen Henning | Pribe Regina | Zeller Raphael | Lehrke Stephanie | Zugck Christian | Ivandic Boris | Katus Hugo
Volume: 9
Issue: 1
Year: 2008
Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples

Author(s): Johnson Catherine | Drgon Tomas | Liu Qing-Rong | Zhang Ping-Wu | Walther Donna | Li Chuan-Yun | Anthony James | Ding Yulan | Eaton William | Uhl George
Volume: 9
Issue: 1
Year: 2008
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
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
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 between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population

Author(s): Shi Dongquan | Ni Haijian | Dai Jin | Qin Jianghui | Xu Yong | Zhu Lunqing | Yao Chen | Shao Zhenxing | Chen Dongyang | Xu Zhihong | Yi Long | Ikegawa Shiro | Jiang Qing
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
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
INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men

Author(s): Orkunoglu-Suer Funda | Gordish-Dressman Heather | Clarkson Priscilla | Thompson Paul | Angelopoulos Theodore | Gordon Paul | Moyna Niall | Pescatello Linda | Visich Paul | Zoeller Robert | Harmon Brennan | Seip Richard | Hoffman Eric | Devaney Joseph
Volume: 9
Issue: 1
Year: 2008
Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus

Author(s): Flekac Milan | Skrha Jan | Hilgertova Jirina | Lacinova Zdena | Jarolimkova Marcela
Volume: 9
Issue: 1
Year: 2008
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families

Author(s): Krajc Mateja | Teugels Erik | Zgajnar Janez | Goelen Guido | Besic Nikola | Novakovic Srdjan | Hocevar Marko | De Grève Jacques
Volume: 9
Issue: 1
Year: 2008
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