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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 all aspects of medical genetics.
BMC Medical Genetics (ISSN 1471-2350) is indexed/tracked/covered by PubMed, MEDLINE, BIOSIS, CAS, Scopus, EMBASE, Thomson Scientific (ISI) and Google Scholar.
Featured articles
BMC Medical Genetics 2008, 9 :20
A new database of all reported disease-related gene mutations in fumarate dehydratase, a TCA-cycle enzyme which has been implicated in the pathogenesis of hereditary leiomyomas and renal tumors, provides a vital resource for clinical geneticists and researchers.
BMC Medical Genetics 2008, 9 :9
Minor alleles of a number of TLR4 variants may increase the risk of developing type 2 diabetes in individuals with an elevated total cholesterol to high-density lipoprotein cholesterol ratio, especially among men.
BMC Medical Genetics 2007, 8 :72
Despite previous reports of a link between breast cancer and circulating prolactin levels, no association is found between prolactin (PRL) and prolactin receptor (PRLR) gene polymorphisms in relation to breast cancer risk.
St. Pete Beach, Florida, USA. 11-15 November 2006
BMC Proceedings 2007, 1(Suppl 1)
more info ]
Research article
New evidence of a mitochondrial genetic background paradox:
impact of the J haplogroup on the A3243G mutation
Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, Pascal Reynier, Marie-Laure Martin-Negrier, Stephane Allouche, Cecile Batandier, Benedicte Mousson de Camaret, Catherine Godinot, Agnes Rotig, Delphine Feldmann, Christine Bellanne-Chantelot, Benoit Arveiler, Erwann Pennarun, Rodrigue Rossignol, Marc Crouzet, Pascal Murail, Didier Thoraval, Thierry Letellier BMC Medical Genetics 2008, 9 :41 (7 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Distribution of the FY*BES and RHCE*ce(733C>G) alleles in an Argentinean population: implications for transfusion medicine Carlos M Cotorruelo, Silvana V Fiori, Silvia E Garcia Borras, Liliana L Racca, Claudia S Biondi, Amelia L Racca BMC Medical Genetics 2008, 9 :40 (6 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples Line Olsen, Thomas Hansen, Klaus D Jakobsen, Srdjan Djurovic, Ingrid Melle, Ingrid Agartz, Haakan Hall, Henrik Ullum, Sally Timm, August G Wang, Erik G Jonsson, Ole A Andreassen, Thomas Werge BMC Medical Genetics 2008, 9 :39 (6 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese You-Qiang Song, Daniel WH Ho, Jaro Karppinen, Patrick YP Kao, Bao-Jian Fan, Keith DK Luk, Shea-Ping Yip, John CY Leong, Kathryn SE Cheah, Pak Sham, Danny Chan, Kenneth MC Cheung BMC Medical Genetics 2008, 9 :38 (28 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele Ryan J Haasl, M. Reza Ahmadi, Sivan Vadakkadath Meethal, Carey E Gleason, Sterling C Johnson, Richard L Bowen, Sanjay Asthana, Craig S Atwood BMC Medical Genetics 2008, 9 :37 (25 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study) Marleen MJ van Greevenbroek, Jian Zhang, Carla JH van der Kallen, Paul MH Schiffers, Edith JM Feskens, Tjerk WA de Bruin BMC Medical Genetics 2008, 9 :36 (24 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians Cindy L Ehlers, Penelope A Lind, Kirk C Wilhelmsen BMC Medical Genetics 2008, 9 :35 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Association of limbic system-associated membrane protein (LSAMP) to male completed suicide Anne Must, Gunnar Tasa, Aavo Lang, Eero Vasar, Sulev K BMC Medical Genetics 2008, 9 :34 (23 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Genetic and functional association of FAM5C with myocardial infarction Jessica J Connelly, Svati H Shah, Jennifer F Doss, Shera Gadson, Sarah Nelson, David R Crosslin, A Brent Hale, Xuemei Lou, Ty Wang, Carol Haynes, David Seo, David C Crossman, Vincent Mooser, Christopher B Granger, Christopher JH Jones, William E Kraus, Elizabeth R Hauser, Simon G Gregory BMC Medical Genetics 2008, 9 :33 (22 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study Camila M de Oliveira, Alexandre C Pereira, Mariza de Andrade, J BMC Medical Genetics 2008, 9 :32 (22 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population Soroush Nasri, Helen More, Francesco Graziano, Annamaria Ruzzo, Emily Wilson, Anita Dunbier, Cushla McKinney, Tony Merriman, Parry Guilford, Mauro Magnani, Bostjan Humar BMC Cancer 2008, 8 :138 (15 [Abstract ] [Provisional PDF ]
Research article
Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites Sharon LR Kardia, M Todd Greene, Eric Boerwinkle, Stephen T Turner, Iftikhar J Kullo BMC Medical Genomics 2008, 1 :16 (15 [Abstract ] [Provisional PDF ]
Research article
Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis Dongquan Shi, Takahiro Nakamura, Masahiro Nakajima, Jin Dai, Jianghui Qin, Haijian Ni, Yong Xu, Chen Yao, Jia Wei, Baorui Liu, Shiro Ikegawa, Qing Jiang Arthritis Research & Therapy 2008, 10 :R54 (10 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case report
Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature Gladys Cossio de Gurrola, Juan Jose Arauz, Elfilda Duran, Maribel Aguilar Medina, Rosalio Ramos Payan, Noemi Garcia Magallanes, Gerardo Vaca Pacheco, Eliakym Arambula Meraz Journal of Medical Case Reports 2008, 2 :146 (6 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Expression of HER-2 in MCF-7 breast cancer cells modulates anti-apoptotic proteins Survivin and Bcl-2 via the extracellular signal-related kinase (ERK) and phosphoinositide-3 kinase (PI3K) signalling pathways Aisha Siddiqa, Linda M Long, Liuxia Li, Robert A Marciniak, Irene Kazhdan BMC Cancer 2008, 8 :129 (2 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Complementary and alternative medicine use among women at increased genetic risk of breast and ovarian cancer Christine M Mueller, Phuong L Mai, Jaime Bucher, June A Peters, Jennifer T Loud, Mark H Greene BMC Complementary and Alternative Medicine 2008, 8 :17 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case report
Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy Renee Ribacoba, Manuel Menendez-Gonzalez, Ines Hernando, Javier Salas, Maria Luisa Giros International Archives of Medicine 2008, 1 :5 (29 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations Xiaozhu Wang, Zheng Wang, Ming Yan, Shangzhi Huang, Tian-Jian Chen, Nanbert Zhong Behavioral and Brain Functions 2008, 4 :20 (29 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Review
The Greig cephalopolysyndactyly syndrome Leslie G Biesecker Orphanet Journal of Rare Diseases 2008, 3 :10 (24 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families Gunilla Kanter-Smoler, Kaisa Fritzell, Anna Rohlin, Yvonne Engwall, Birgitta Hallberg, Annika Bergman, Johan Meuller, Henrik Gr BMC Medicine 2008, 6 :10 (24 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
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