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Editor-in-Chief Melissa Norton, MD
Medical Editor Jigisha Patel, MRCP PhD
In-house Editor Scott Edmunds
Welcome to BMC Medical Genetics published by BioMed Central
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
BMC Medical Genetics (ISSN 1471-2350) is indexed/tracked/covered by PubMed, MEDLINE, BIOSIS, CAS, Scopus, EMBASE, Current Contents, Thomson Reuters (ISI) and Google Scholar.
BMC Medical Genetics 2008, 9 :93
Intergenic epistasis between polymorphisms of the alpha2C-adrenergic receptors ADRA2C and ADRB1, both involved in the sympathetic activation of the heart, increase the risk of death or cardiac transplant in heart failure patients.
BMC Medical Genetics 2008, 9 :92
The identification of a hypomorphic mutation of Ellis-van Creveld syndrome, an autosomal recessive disease with a distinctive phenotype, identifies the need to genotype those with cardiac and limb abnormalities but not other more typical features
BMC Medical Genetics 2008, 9 :85
A single nucleotide polymorphism (SNP) in the FTO gene, previously linked to increased risk of obesity, is not associated with weight loss during a lifestyle intervention program or with fasting blood glucose, triglycerides or cholesterol.
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Research article
Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women Yiqing Song, Yi-Hsiang Hsu, Tianhua Niu, JoAnn E. Manson, Julie E. Buring, Simin Liu BMC Medical Genetics 2009, 10 :4 (17 [Abstract ] [Provisional PDF ]
Research article
Genome Screen in Familial Intracranial Aneurysm Tatiana Foroud, Laura Sauerbeck, Robert Brown, Craig Anderson, Daniel Woo, Dawn Kleindorfer, Matthew L. Flaherty, Ranjan Deka, Richard Hornung, Irene Meissner, Joan E. Bailey-Wilson, Carl Langefeld, Guy Rouleau, E. SANDER Connolly, Dongbing Lai, Daniel L. Koller, John Huston III, Joseph P. Broderick, FIA Study Investigators [Familial Intracranial Aneurysm Study Investigators] BMC Medical Genetics 2009, 10 :3 (13 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Technical advance
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness Soraya Bardien, Hannique Human, Tashneem Harris, Gwynneth Hefke, Rene Veikondis, H Simon Schaaf, Lize van der Merwe, John H Greinwald, Johan Fagan, Greetje de Jong BMC Medical Genetics 2009, 10 :2 (13 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, Michael Miller BMC Medical Genetics 2009, 10 :1 (8 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Folliculin mutations are not associated with severe COPD Michael H Cho, Barbara J Klanderman, Augusto A Litonjua, David Sparrow, Edwin K Silverman, Benjamin A Raby BMC Medical Genetics 2008, 9 :120 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population Fuquan Zhang, Yong Xu, Pozi Liu, Hua Fan, Xuezhu Huang, Gaoxiang Sun, Yuqing Song, Pak C Sham BMC Medical Genetics 2008, 9 :119 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits Camilla H Andreasen, Mette S Mogensen, Knut Borch-Johnsen, Annelli Sandbaek, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben Jorgensen, Oluf Pedersen, Torben Hansen BMC Medical Genetics 2008, 9 :118 (26 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men Funda E. Orkunoglu-Suer, Heather Gordish-Dressman, Priscilla M. Clarkson, Paul D. Thompson, Theodore J. Angelopoulos, Paul M. Gordon, Niall M. Moyna, Linda S. Pescatello, Paul S. Visich, Robert F. Zoeller, Brennan Harmon, Richard L. Seip, Eric P. Hoffman, Joseph M. Devaney BMC Medical Genetics 2008, 9 :117 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Selecting a BRCA risk assessment model for use in a familial cancer clinic Seema Panchal, Marguerite Ennis, Sandra Canon, Louise J Bordeleau BMC Medical Genetics 2008, 9 :116 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia
Brenda C Murphy, Richard L O'Reilly, Shiva M Singh BMC Medical Genetics 2008, 9 :115 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Qualitative analysis of Adenomatous Polyposis Coli promoter: Hypermethylation, engagement and effects on survival of patients with esophageal cancer in a high risk region of the world, a potential molecular marker
Maryam Zare, Ferdous Rastgar Jazii, Mohammad Reza Alivand, Negin Karimi Nasseri, Reza Malekzadeh, Mansour Yazdanbod BMC Cancer 2009, 9 :24 (17 [Abstract ] [Provisional PDF ]
Editorial
The Neuroscience Peer Review Consortium Clifford B. Saper, John H.R. Maunsell, Terje Sagvolden Behavioral and Brain Functions 2009, 5 :4 (16 [Abstract ] [Provisional PDF ]
Research
Reduced expression of lamin A/C correlates with poor histological differentiation and prognosis in primary gastric carcinoma Zhengrong Wu, Lirong Wu, Desheng Weng, Dazhi Xu, Jian Geng, Fei Zhao Journal of Experimental & Clinical Cancer Research 2009, 28 :8 (15 [Abstract ] [Provisional PDF ]
Case Report
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora , features suggestive of a propable mild form of Desbeqious dysplasia: a case report and review of the literature Ali Al Kaissi, Christof Radler, Klaus Klaushofer, Franz Grill Cases Journal 2009, 2 :45 (13 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
No evidence of major effects in several toll-like receptor gene polymorphisms in rheumatoid arthritis Olivier Jaen, Elisabeth Petit-Teixeira, Holger Kirsten, Peter Anhert, Luca Semerano, Celine Pierlot, Francois Cornelis, Marie-Christophe Boissier, Geraldine Falgarone Arthritis Research & Therapy 2009, 11 :R5 (13 [Abstract ] [Provisional PDF ]
Research
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods Sudhisha Dubey, Susan Idicula-Thomas, Mohammad Anwaruddin, Chinnaraj Saravanan, R Raveendra Varma, Anurupa Maitra Journal of Biomedical Science 2009, 16 :3 (8 [Abstract ] [Provisional PDF ]
Review
Progressive familial intrahepatic cholestasis Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin Orphanet Journal of Rare Diseases 2009, 4 :1 (8 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case Report
Male infertility related to an aberrant karyotype 47,XYY: four case reports Faeza El-Dahtory, Hany M Elsheikha Cases Journal 2009, 2 :28 (8 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Bayesian DNA copy number analysis Paola MV Rancoita, Marcus Hutter, Francesco Bertoni, Ivo Kwee BMC Bioinformatics 2009, 10 :10 (8 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case Report
Schizophrenia spectrum disorders in a Nigerian family: 4 case reports Joyce O Omoaregba, Bawo O James, George O Eze Cases Journal 2009, 2 :14 (6 [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
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