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BMC Medical Genetics

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Editor-in-Chief
Melissa Norton, MD

Medical Editor
Jigisha Patel, MRCP PhD

In-house Editor
Scott Edmunds



BMC  BMC Medical Genetics, Volume 9


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 (7May2008)
[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 (6May2008)
[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 (6May2008)
[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 (28April2008)
[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 (25April2008)
[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 (24April2008)
[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 (23April2008)
[Abstract] [Full text] [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 Kks, Eduard Maron, Marika Vli
BMC Medical Genetics 2008, 9:34 (23April2008)
[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 (22April2008)
[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, Jlia M Soler, Jos E Krieger
BMC Medical Genetics 2008, 9:32 (22April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease
Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, Richard SG Knight
BMC Medical Genetics 2008, 9:31 (21April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus
Milan Flekac, Jan Skrha, Jirina Hilgertova, Zdena Lacinova, Marcela Jarolimkova
BMC Medical Genetics 2008, 9:30 (21April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family
Attila Patocs, Peter Gergics, Katalin Balogh, Miklos Toth, Ferenc Fazakas, Istvan Liko, Karoly Racz
BMC Medical Genetics 2008, 9:29 (16April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulou
BMC Medical Genetics 2008, 9:28 (14April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
Ivon Cusc, Miguel del Campo, Mireia Vilardell, Eva Gonzlez, Blanca Gener, Enrique Galn, Laura Toledo, Luis A Prez-Jurado
BMC Medical Genetics 2008, 9:27 (11April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Technical advance
Minisequencing mitochondrial DNA pathogenic mutations
Vanesa lvarez-Iglesias, Francisco Barros, ngel Carracedo, Antonio Salas
BMC Medical Genetics 2008, 9:26 (10April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study
Peeter Juhanson, Katrin Kepp, Elin Org, Gudrun Veldre, Piret Kelgo, Mai Rosenberg, Margus Viigimaa, Maris Laan
BMC Medical Genetics 2008, 9:25 (10April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family
Su Zhang, Ke Yin, Xiang Ren, Pengyun Wang, Shirong Zhang, Lingling Cheng, Junguo Yang, Jing Yu Liu, Mugen Liu, Qing Kenneth Wang
BMC Medical Genetics 2008, 9:24 (9April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD
Joshua W Knowles, Themistocles L Assimes, Eric Boerwinkle, Stephen P Fortmann, Alan Go, Megan L Grove, Mark Hlatky, Carlos Iribarren, Jun Li, Richard Myers, Neil Risch, Stephen Sidney, Audrey Southwick, Kelly A Volcik, Thomas Quertermous
BMC Medical Genetics 2008, 9:23 (2April2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population
Yuka Yamaguchi, Maki Moritani, Toshihito Tanahashi, Dai Osabe, Kyoko Nomura, Yuka Fujita, Parvaneh Keshavarz, Kiyoshi Kunika, Naoto Nakamura, Toshikazu Yoshikawa, Eiichiro Ichiishi, Hiroshi Shiota, Natsuo Yasui, Hiroshi Inoue, Mitsuo Itakura
BMC Medical Genetics 2008, 9:22 (27March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

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