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Editor-in-Chief Melissa Norton, MD
Medical Editor Jigisha Patel, MRCP PhD
In-house Editor Scott Edmunds, PhD
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 2009, 10 :40
A region of pleiotropic genes located on chromosome 7 contributes to left ventricle wall thickness and body mass index in white people and may be a therapeutic target for the treatment of left ventricular hypertrophy.
BMC Medical Genetics 2009, 10 :34
Identical exon 3 SDHB deletions and a common haplotype in nine Dutch paraganglioma and pheochromocytoma patients suggest this novel deletion is the first Dutch SDHB founder mutation, although the predominantly non-familial presentation of these patients implies reduced penetrance.
BMC Medical Genetics 2009, 10 :22
The interleukin 2 receptor alpha (IL2RA) pathway may prove to play different roles in a number of autoimmune diseases, with genetic associations being shown between different disorders and single nucleotide polymorphisms at this locus.
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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 (30 [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 (30 [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 (18 [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 (17 [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 (16 [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 G BMC Medical Genetics 2009, 10 :57 (16 [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 (12 [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 (12 [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 (10 [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 (9 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Review
Patent arterial duct Jonathan T Forsey, Ola A Elmasry, Robin P Martin Orphanet Journal of Rare Diseases 2009, 4 :17 (10 [Abstract ] [Provisional PDF ]
Research article
Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas Yiping Shen, Fabio Nunes, Anat Stemmer-Rachamimov, Marianne James, Gayatry Mohapatra, Scott Plotkin, Rebecca A Betensky, David A Engler, Jennifer Roy, Vijaya Ramesh, James F Gusella BMC Medical Genomics 2009, 2 :42 (9 [Abstract ] [Provisional PDF ]
Research article
Associations of a PTPN11 G/A polymorphism at intron 3 with Helicobactor pylori seropositivity, gastric atrophy and gastric cancer in Japanese Asahi Hishida, Keitaro Matsuo, Yasuyuki Goto, Mariko Naito, Kenji Wakai, Kazuo Tajima, Nobuyuki Hamajima BMC Gastroenterology 2009, 9 :51 (9 [Abstract ] [Provisional PDF ]
Research article
Downregulation of SFRP5 expression and its inverse correlation with those of MMP-7 and MT1-MMP in gastric cancer Chenghai Zhao, Xianmin Bu, Ning Zhang, Wei Wang BMC Cancer 2009, 9 :224 (9 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Ranking candidate genes in rat models of type 2 diabetes Lars Andersson, Greta Petersen, Fredrik Stahl Theoretical Biology and Medical Modelling 2009, 6 :12 (3 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Prognostic relevance of Wnt-inhibitory factor-1 (WIF1) and Dickkopf-3 (DKK3) promoter methylation in human breast cancer
Jurgen Veeck, Peter J Wild, Thomas Fuchs, Peter J Schuffler, Arndt Hartmann, Ruth Knuchel, Edgar Dahl BMC Cancer 2009, 9 :217 (1 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case report
Clinically abnormal case with paternally derived partial
trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Dilek Aktas, Anja Weise, Eda Utine, Dursun Alehan, Kristin Mrasek, Ferdinand von Eggeling, Heike Thieme, Ergul Tuncbilek, Thomas Liehr Molecular Cytogenetics 2009, 2 :14 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Molecular characterization of EGFR, PDGFRA and VEGFR-2 in cervical adenosquamous carcinoma Adhemar Longatto-Filho, Celine Pinheiro, Olga Martinho, Marise AR Moreira, Luiz FJ Ribeiro, Geraldo S Queiroz, Fernando C Schmitt, Fatima Baltazar, Rui M Reis BMC Cancer 2009, 9 :212 (29 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example Leila Mohammadi, Maaike P Vreeswijk, Rogier Oldenburg, Ans van den Ouweland, Jan C Oosterwijk, Annemarie H van der Hout, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Margreet G Ausems, Rob B van der Luijt, Charlotte J Dommering, Johan J Gille, Senno Verhoef, Frans B Hogervorst, Theo A van Os, Encarna Gomez Garcia, Marinus J Blok, Juul TH Wijnen, Quinta Helmer, Peter Devilee, Christi J van Asperen, Hans C van Houwelingen BMC Cancer 2009, 9 :211 (29 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
A Gene Signature for Post-Infectious Chronic Fatigue Syndrome John W Gow, Suzanne Hagan, Pawel Herzyk, Celia Cannon, Peter O Behan, Abhijit Chaudhuri BMC Medical Genomics 2009, 2 :38 (25 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
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