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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, PhD



BMC  BMC Medical Genetics, Volume 10


Research article
Lack of Association of TIM3 Polymorphisms and Allergic Phenotypes
Jian Zhang, Denise Daley, Loubna Akhabir, Dorota Stefanowicz, Moira Chan-Yeung, Allan B Becker, Catherine Laprise, Peter D Pare, Andrew J Sandford
BMC Medical Genetics 2009, 10:62 (30June2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Research article
Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
Jian Qin, Meixiang Jia, Lifang Wang, Tianlan Lu, Yan Ruan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Weihua Yue, Dai Zhang
BMC Medical Genetics 2009, 10:61 (30June2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Research article
Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes
Jeanette Feder, Ofer Ovadia, Ilana Blech, Josef Cohen, Julio Wainstein, Ilana Harman-Boehm, Benjamin Glaser, Dan Mishmar
BMC Medical Genetics 2009, 10:60 (18June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population
Qiji Liu, Yu Xia, Wenjing Zhang, Jisheng Li, Pin Wang, Huaichen Li, Chunhua Wei, Yaoqin Gong
BMC Medical Genetics 2009, 10:59 (17June2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Research article
Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension
Jennifer A Johnson, Cindy L Vnencak-Jones, Joy D Cogan, James E Loyd, James West
BMC Medical Genetics 2009, 10:58 (16June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
Nuria Gmez-Fernndez, Sergi Castellv-Bel, Ceres Fernndez-Rozadilla, Francesc Balaguer, Jenifer Muoz, Irene Madrigal, Montserrat Mil, Begoa Graa, Ana Vega, Antoni Castells, ngel Carracedo, Clara Ruiz-Ponte
BMC Medical Genetics 2009, 10:57 (16June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts
Jan Bressler, Myriam Fornage, Craig L Hanis, Wen Hong Linda Kao, Cora E Lewis, Ruth McPherson, Robert Dent, Thomas H Mosley, Len A Pennacchio, Eric Boerwinkle
BMC Medical Genetics 2009, 10:56 (12June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Homozygosity and risk of childhood death due to invasive bacterial disease
Emily J Lyons, William Amos, James A Berkley, Isaiah Mwangi, Mohammed Shafi, Thomas N Williams, Charles R Newton, Norbert Peshu, Kevin Marsh, J Anthony G Scott, Adrian V.S. Hill
BMC Medical Genetics 2009, 10:55 (12June2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Research article
A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk
Kimberley Howarth, Susanna Ranta, Eitan Winter, Ana Teixeira, Helmut Schaschl, John J Harvey, Andrew Rowan, Angela Jones, Sarah Spain, Susan Clark, Thomas Guenther, Aengus Stewart, Andrew Silver, Ian Tomlinson
BMC Medical Genetics 2009, 10:54 (10June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique
Sadick Haneen, Hage Johanna, Goessler Ulrich, Stern-Straeter Jens, Riedel Frank, Hoermann Karl, Bugert Peter
BMC Medical Genetics 2009, 10:53 (9June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
PPAR Pro12Ala polymorphism and risk of acute coronary syndrome in a prospective study of Danes
Ulla Vogel, Stine Segel, Claus Dethlefsen, Anne Tjnneland, Anne Thoustrup Saber, Hkan Wallin, Majken K Jensen, Erik B Schmidt, Paal Skytt Andersen, Kim Overvad
BMC Medical Genetics 2009, 10:52 (7June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
Delphine Fauvert, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Linda Bellazi, Agns Taillandier, Jean-Louis Serre, Philippe de Mazancourt, Etienne Mornet
BMC Medical Genetics 2009, 10:51 (6June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
ACE (I/D) polymorphism and response to treatment in coronary artery disease: a comprehensive database and meta-analysis involving study quality evaluation
Georgios Kitsios, Elias Zintzaras
BMC Medical Genetics 2009, 10:50 (4June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
Gary M Shaw, Wei Lu, Huiping Zhu, Wei Yang, Farren BS Briggs, Suzan L Carmichael, Lisa F Barcellos, Edward J Lammer, Richard H Finnell
BMC Medical Genetics 2009, 10:49 (3June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
Luis Fernndez, Julin Nevado, Fernando Santos, Dami Heine-Suer, Victor Martinez-Glez, Sixto Garca-Miaur, Rebeca Palomo, Alicia Delicado, Isidora Lpez Pajares, Mara Palomares, Luis Garca-Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina
BMC Medical Genetics 2009, 10:48 (2June2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy
Bin Zhou, Li Rao, Ying Peng, Yanyun Wang, Yi Li, Linbo Gao, Yu Chen, Hui Xue, Yaping Song, Miao Liao, Lin Zhang
BMC Medical Genetics 2009, 10:47 (31May2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Genetic variation in Fc receptor IIa and risk of coronary heart disease: negative results from two large independent populations
Mahir Karakas, Michael M Hoffmann, Caren Vollmert, Dietrich Rothenbacher, Christa Meisinger, Bernhard Winkelmann, Natalie Khuseyinova, Bernhard O Bhm, Thomas Illig, Winfried Mrz, Wolfgang Koenig
BMC Medical Genetics 2009, 10:46 (29May2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Rapid diagnosis of spinal muscular atrophy using High-Resolution Melting Analysis
Wan Jin Chen, Wan Juan Dong, Xiao Zhen Lin, Min Ting Lin, Shen Xing Murong, Zhi Ying Wu, Ning Wang
BMC Medical Genetics 2009, 10:45 (29May2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Lack of association between polymorphisms of the IL18R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project
Marie-Lise Grisoni, Carole Proust, Mervi Alanne, Maylis DeSuremain, Veikko Salomaa, Kari Kuulasmaa, Franois Cambien, Viviane Nicaud, Per-Gunnar Wiklund, Jarmo Virtamo, Frank Kee, Laurence Tiret, Alun Evans, David-Alexandre Tregouet
BMC Medical Genetics 2009, 10:44 (27May2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: The HyperGEN Study
Donna K Arnett, Na Li, Weihong Tang, Dabeeru C Rao, Richard B Devereux, Steven A Claas, Rachel Kraemer, Ulrich Broeckel
BMC Medical Genetics 2009, 10:43 (19May2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

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