Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors
Author(s): Evans DGR | Ingham SL
Volume: 2013
Issue: default
Year: 2013
Author(s): Evans DGR | Ingham SL Volume: 2013 Issue: default Year: 2013
Developments in the treatment of hemophilia B: focus on emerging gene therapy
Author(s): Cancio MI | Reiss UM | Nathwani AC | Davidoff AM | Gray JT
Volume: 2013
Issue: default
Year: 2013
Author(s): Cancio MI | Reiss UM | Nathwani AC | Davidoff AM | Gray JT Volume: 2013 Issue: default Year: 2013
Genetic variants associated with Crohn's disease
Author(s): Michail S | Bultron G | DePaolo RW
Volume: 2013
Issue: default
Year: 2013
Author(s): Michail S | Bultron G | DePaolo RW Volume: 2013 Issue: default Year: 2013
Candidate genes of Waldenström’s macroglobulinemia: current evidence and research
Author(s): Bianchi G | Sacco A | Kumar S | Rossi G | Ghobrial I | Roccaro A
Volume: 2013
Issue: default
Year: 2013
Author(s): Bianchi G | Sacco A | Kumar S | Rossi G | Ghobrial I | Roccaro A Volume: 2013 Issue: default Year: 2013
Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous
Author(s): Bener A | Darwish S | Al-Hamaq AO | Yousafzai M
Volume: 2013
Issue: default
Year: 2013
Author(s): Bener A | Darwish S | Al-Hamaq AO | Yousafzai M Volume: 2013 Issue: default Year: 2013
The genetics of multiple sclerosis: review of current and emerging candidates
Author(s): Muñoz-Culla M | Irizar H | Otaegui D
Volume: 2013
Issue: default
Year: 2013
Author(s): Muñoz-Culla M | Irizar H | Otaegui D Volume: 2013 Issue: default Year: 2013
Dubowitz syndrome: common findings and peculiar urine odor
Author(s): Chehade C | Awwad J | Yazbeck N | Majdalani M | Wakim R | Tfayli H | Farra C
Volume: 2013
Issue: default
Year: 2013
Author(s): Chehade C | Awwad J | Yazbeck N | Majdalani M | Wakim R | Tfayli H | Farra C Volume: 2013 Issue: default Year: 2013
Clinical impact of recent genetic discoveries in osteoporosis
Author(s): Mitchell BD | Streeten EA
Volume: 2013
Issue: default
Year: 2013
Author(s): Mitchell BD | Streeten EA Volume: 2013 Issue: default Year: 2013
Proximal spinal muscular atrophy: current orthopedic perspective
Author(s): Haaker G | Fujak A
Volume: 2013
Issue: default
Year: 2013
Author(s): Haaker G | Fujak A Volume: 2013 Issue: default Year: 2013
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies
Author(s): Hsiao PY | Tien HC | Lo CP | Juang JM | Wang YH | Sung RJ
Volume: 2013
Issue: default
Year: 2013
Author(s): Hsiao PY | Tien HC | Lo CP | Juang JM | Wang YH | Sung RJ Volume: 2013 Issue: default Year: 2013
PALB2 and breast cancer: ready for clinical translation!
Author(s): Southey MC | Teo ZL | Winship I
Volume: 2013
Issue: default
Year: 2013
Author(s): Southey MC | Teo ZL | Winship I Volume: 2013 Issue: default Year: 2013
Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH
Author(s): Ochando I | Urbano A | Rubio J | Rueda J
Volume: 2012
Issue: default
Year: 2012
Author(s): Ochando I | Urbano A | Rubio J | Rueda J Volume: 2012 Issue: default Year: 2012
Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise
Author(s): Williams CB | Gurd BJ
Volume: 2012
Issue: default
Year: 2012
Author(s): Williams CB | Gurd BJ Volume: 2012 Issue: default Year: 2012
Genetics of hearing loss: focus on DFNA2
Author(s): Dominguez LM | Dodson KM
Volume: 2012
Issue: default
Year: 2012
Author(s): Dominguez LM | Dodson KM Volume: 2012 Issue: default Year: 2012
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
Author(s): Costain G | Bassett AS
Volume: 2012
Issue: default
Year: 2012
Author(s): Costain G | Bassett AS Volume: 2012 Issue: default Year: 2012
Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus
Author(s): Tayel SI | Khader HF | El-Helbawy NG | Ibrahim WA
Volume: 2012
Issue: default
Year: 2012
Author(s): Tayel SI | Khader HF | El-Helbawy NG | Ibrahim WA Volume: 2012 Issue: default Year: 2012
Congenital protein hypoglycosylation diseases
Author(s): Sparks SE
Volume: 2012
Issue: default
Year: 2012
Author(s): Sparks SE Volume: 2012 Issue: default Year: 2012
The genetic basis of severe combined immunodeficiency and its variants
Author(s): Tasher D | Dalal I
Volume: 2012
Issue: default
Year: 2012
Author(s): Tasher D | Dalal I Volume: 2012 Issue: default Year: 2012
The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates
Author(s): Ather MH | Siddiqui T
Volume: 2012
Issue: default
Year: 2012
Author(s): Ather MH | Siddiqui T Volume: 2012 Issue: default Year: 2012
Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome
Author(s): Eugen Dhimolea
Volume: 2011
Issue: default
Year: 2011
Author(s): Eugen Dhimolea Volume: 2011 Issue: default Year: 2011
DataGenno: building a new tool to bridge molecular and clinical genetics
Author(s): Fabricio F Costa | Luciano S Foly | Marcelo P Coutinho
Volume: 2011
Issue: default
Year: 2011
Author(s): Fabricio F Costa | Luciano S Foly | Marcelo P Coutinho Volume: 2011 Issue: default Year: 2011
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression
Author(s): Schulte C | Gasser T
Volume: 2011
Issue: default
Year: 2011
Author(s): Schulte C | Gasser T Volume: 2011 Issue: default Year: 2011
FAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer
Author(s): Robert P Young | Raewyn J Hopkins | Bryan A Hay | et al
Volume: 2011
Issue: default
Year: 2010
Author(s): Robert P Young | Raewyn J Hopkins | Bryan A Hay | et al Volume: 2011 Issue: default Year: 2010
Identifying the genetic components underlying the pathophysiology of movement disorders
Author(s): Ezquerra M | Compta Y | Marti MJ
Volume: 2011
Issue: default
Year: 2011
Author(s): Ezquerra M | Compta Y | Marti MJ Volume: 2011 Issue: default Year: 2011
Genetic variations and associated pathophysiology in the management of epilepsy
Author(s): Mulley JC | Dibbens LM
Volume: 2011
Issue: default
Year: 2011
Author(s): Mulley JC | Dibbens LM Volume: 2011 Issue: default Year: 2011
A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder
Author(s): Farra C | Yunis K | Yazbeck N | Majdalani M | Charafeddine L | Wakim R | Awwad J
Volume: 2011
Issue: default
Year: 2011
Author(s): Farra C | Yunis K | Yazbeck N | Majdalani M | Charafeddine L | Wakim R | Awwad J Volume: 2011 Issue: default Year: 2011
Genetic evidence linking lung cancer and COPD: a new perspective
Author(s): Young RP | Hopkins RJ | Gamble GD | Etzel C | El-Zein R | Crapo JD
Volume: 2011
Issue: default
Year: 2011
Author(s): Young RP | Hopkins RJ | Gamble GD | Etzel C | El-Zein R | Crapo JD Volume: 2011 Issue: default Year: 2011
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment
Author(s): Ah Mew N | Caldovic L
Volume: 2011
Issue: default
Year: 2011
Author(s): Ah Mew N | Caldovic L Volume: 2011 Issue: default Year: 2011
Inherited and acquired alterations in development of breast cancer
Author(s): Rizzolo P | Silvestri V | Falchetti M | Ottini L
Volume: 2011
Issue: default
Year: 2011
Author(s): Rizzolo P | Silvestri V | Falchetti M | Ottini L Volume: 2011 Issue: default Year: 2011
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents
Author(s): Steve D Wilton | Sue Fletcher
Volume: 2011
Issue: default
Year: 2011
Author(s): Steve D Wilton | Sue Fletcher Volume: 2011 Issue: default Year: 2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview
Author(s): Abboud RT | Nelson TN | Jung B | Mattman A
Volume: 2011
Issue: default
Year: 2011
Author(s): Abboud RT | Nelson TN | Jung B | Mattman A Volume: 2011 Issue: default Year: 2011
The genetics of breast cancer: risk factors for disease
Author(s): Andrew Collins | Ioannis Politopoulos
Volume: 2011
Issue: default
Year: 2011
Author(s): Andrew Collins | Ioannis Politopoulos Volume: 2011 Issue: default Year: 2011
GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect?
Author(s): Young RP | Hopkins RJ | Hay BA | Gamble GD
Volume: 2011
Issue: default
Year: 2011
Author(s): Young RP | Hopkins RJ | Hay BA | Gamble GD Volume: 2011 Issue: default Year: 2011
Amniotic band syndrome and/or limb body wall complex: split or lump
Author(s): Ashutosh Halder
Volume: 2010
Issue: default
Year: 2010
Author(s): Ashutosh Halder Volume: 2010 Issue: default Year: 2010
Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism
Author(s): Zhiwei Gao | Donna C Rennie | Ambikaipakan Senthilselvan
Volume: 2010
Issue: default
Year: 2010
Author(s): Zhiwei Gao | Donna C Rennie | Ambikaipakan Senthilselvan Volume: 2010 Issue: default Year: 2010
Pilot study of an association between a common variant in the non-muscle myosin heavy chain 9 (MYH9) gene and type 2 diabetic nephropathy in a Taiwanese population
Author(s): Chang-Hsun Hsieh | Yi-Jen Hung | Dee Pei | et al
Volume: 2010
Issue: default
Year: 2010
Author(s): Chang-Hsun Hsieh | Yi-Jen Hung | Dee Pei | et al Volume: 2010 Issue: default Year: 2010
Inheritance of craniofacial features in Colombian families with class III malocclusion
Author(s): L Otero | L Quintero | D Champsaur | et al
Volume: 2010
Issue: default
Year: 2010
Author(s): L Otero | L Quintero | D Champsaur | et al Volume: 2010 Issue: default Year: 2010
Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects
Author(s): Fabricio González-Andrade | Ramiro López-Pulles
Volume: 2010
Issue: default
Year: 2010
Author(s): Fabricio González-Andrade | Ramiro López-Pulles Volume: 2010 Issue: default Year: 2010
Genetic and molecular mechanisms in multiple myeloma: a route to better understand disease pathogenesis and heterogeneity
Author(s): Marie-Christine Kyrtsonis | Vassiliki Bartzis | Xenophon Papanikolaou | et al
Volume: 2010
Issue: default
Year: 2010
Author(s): Marie-Christine Kyrtsonis | Vassiliki Bartzis | Xenophon Papanikolaou | et al Volume: 2010 Issue: default Year: 2010
Genetic contribution and associated pathophysiology in end-stage renal disease
Author(s): Suraksha Agrawal | SS Agarwal | Sita Naik
Volume: 2010
Issue: default
Year: 2010
Author(s): Suraksha Agrawal | SS Agarwal | Sita Naik Volume: 2010 Issue: default Year: 2010
Gene polymorphisms in association with self-reported stroke in US adults
Author(s): Amy Z Fan | Jing Fang | Ajay Yesupriya | et al
Volume: 2010
Issue: default
Year: 2010
Author(s): Amy Z Fan | Jing Fang | Ajay Yesupriya | et al Volume: 2010 Issue: default Year: 2010
Psychogenetics of post-traumatic stress disorder: a short review
Author(s): Ahmed Rady | Adel Elsheshai | Osama Elkholy | et al
Volume: 2010
Issue: default
Year: 2010
Author(s): Ahmed Rady | Adel Elsheshai | Osama Elkholy | et al Volume: 2010 Issue: default Year: 2010
Management of the asymptomatic BRCA mutation carrier
Author(s): Paige Teller | Rita K Kramer
Volume: 2010
Issue: default
Year: 2010
Author(s): Paige Teller | Rita K Kramer Volume: 2010 Issue: default Year: 2010
Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors
Author(s): Jean-Baptiste Bachet | Jean-François Emile
Volume: 2010
Issue: default
Year: 2010
Author(s): Jean-Baptiste Bachet | Jean-François Emile Volume: 2010 Issue: default Year: 2010
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
Author(s): Isabel De Castro-Orós | Miguel Pocoví | Fernando Civeira
Volume: 2010
Issue: default
Year: 2010
Author(s): Isabel De Castro-Orós | Miguel Pocoví | Fernando Civeira Volume: 2010 Issue: default Year: 2010
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry
Author(s): Struan FA Grant | Michelle Petri | Jonathan P Bradfield | Cecilia E Kim | Erin Santa | et al
Volume: 2009
Issue: default
Year: 2008
Author(s): Struan FA Grant | Michelle Petri | Jonathan P Bradfield | Cecilia E Kim | Erin Santa | et al Volume: 2009 Issue: default Year: 2008
The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder
Author(s): Arie J Stam | Patricia F Schothorst | Jacob AS Vorstman | Wouter G Staal
Volume: 2009
Issue: default
Year: 2009
Author(s): Arie J Stam | Patricia F Schothorst | Jacob AS Vorstman | Wouter G Staal Volume: 2009 Issue: default Year: 2009
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)
Author(s): Solveig Schulz | Marianne Volleth | Petra Muschke | Ilse Wieland | Peter Wieacker
Volume: 2008
Issue: default
Year: 2008
Author(s): Solveig Schulz | Marianne Volleth | Petra Muschke | Ilse Wieland | Peter Wieacker Volume: 2008 Issue: default Year: 2008
