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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.
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)
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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 ]
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 Y. P. Kao, Bao-Jian Fan, Keith D.K. Luk, Shea-Ping Yip, John C.Y. Leong, Kathryn S.E. Cheah, Pak Sham, Danny Chan, Kenneth M.C. Cheung BMC Medical Genetics 2008, 9 :38 (28 [Abstract ] [Provisional 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 Koks, Eduard Maron, Marika Vali BMC Medical Genetics 2008, 9 :34 (23 [Abstract ] [Provisional 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 J.H. Jones, William E. Kraus, Elizabeth R. Hauser, Simon G Gregory BMC Medical Genetics 2008, 9 :33 (22 [Abstract ] [Provisional 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, Julia M Soler, Jose E Krieger BMC Medical Genetics 2008, 9 :32 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Short Report
Survival of Burkholderia pseudomallei in Water Richard A Moore, Apichai Tuanyok, Donald E Woods BMC Research Notes 2008, 1 :11 (7 [Abstract ] [Provisional PDF ]
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
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 ]
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 ]
Research
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem A Bejjani, Lisa G Shaffer Molecular Cytogenetics 2008, 1 :8 (28 [Abstract ] [Provisional PDF ]
Research
Meta-analysis of genome-wide linkage studies of asthma and related traits Samuel Denham, Gerard H Koppelman, John Blakey, Matthias Wjst, Manuel A Ferreira, Ian P Hall, Ian Sayers Respiratory Research 2008, 9 :38 (28 [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 Gronberg, Per Karlsson, Jan Bjork, Margareta Nordling BMC Medicine 2008, 6 :10 (24 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians Joerg Bittenbring, Frederique Parisot, Alain Wabo, Monika Mueller, Lynn Kerschenmeyer, Markus Kreuz, Lorenz Truemper, Olfert Landt, Alain Menzel, Michael Pfreundschuh, Klaus Roemer BMC Cancer 2008, 8 :116 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Technical advance
Application of microarray outlier detection methodology to psychiatric research Carl Ernst, Alexandre Bureau, Gustavo Turecki BMC Psychiatry 2008, 8 :29 (23 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
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