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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 Reuters (ISI) and Google Scholar.
BMC Medical Genetics 2008, 9 :70
Unlike previous reports, common haplotypes of the ileal sodium-dependent bile acid transporter gene (SLC10A2) are not a major risk factor for progression to colorectal cancer from colorectal adenoma in familial colorectal cancer patients.
BMC Medical Genetics 2008, 9 :57
While mitochondrial haplogroups pre HV/HV and U are associated with an increased risk of ischemic stroke, haplogroup H1 is associated with a protective effect in a sample of the Portuguese population
BMC Medical Genetics 2008, 9 :45
Genetic variants that modulate insulin action have an increased effect on type 2 diabetes susceptibility in obese individuals, whereas genetic variants acting on insulin secretion have a greater impact on type 2 diabetes susceptibility in non-obese individuals.
St. Pete Beach, Florida, USA. 11-15 November 2006
BMC Proceedings 2007, 1(Suppl 1)
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Research article
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31)
Katharina J Schlang, Larissa Arning, Joerg T Epplen, Susanne Stemmler BMC Medical Genetics 2008, 9 :71 (21 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study Frank Grunhage, Matthias Jungck, Christoph Lamberti, Hildegard Keppeler, Ursula Becker, Hildegard Schulte-Witte, Dominik Plassmann, Nicolaus Friedrichs, Reinhard Buettner, Stefan Aretz, Tilman Sauerbruch, Frank Lammert BMC Medical Genetics 2008, 9 :70 (21 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Analysis of variants in DNA damage signalling genes in bladder cancer Ananya Choudhury, Faye Elliott, Mark M Iles, Michael Churchman, Robert G Bristow, D Timothy Bishop, Anne E Kiltie BMC Medical Genetics 2008, 9 :69 (18 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia Shin-Young Kim, Ji-Hyae Lim, Jae-Hyug Yang, Moon-Young Kim, Jung-Yeol Han, Hyun-Kyong Ahn, June-Seek Choi, So-Yeon Park, Mi-Jin Kim, Hyun-Mee Ryu BMC Medical Genetics 2008, 9 :68 (17 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy, Nanette Steinle BMC Medical Genetics 2008, 9 :67 (14 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome Thomas M Morgan, Lan Xiao, Patrick Lyons, Bethany Kassebaum, Harlan M Krumholz, John A Spertus BMC Medical Genetics 2008, 9 :66 (12 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II Elizabeth Ramos-Lopez, Britta Lange, Heinrich Kahles, Holger S Willenberg, Gesine Meyer, Marissa Penna-Martinez, Nicole Reisch, Stefanie Hahner, J BMC Medical Genetics 2008, 9 :65 (11 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Technical advance
Design Considerations in a Sib-pair Study of Linkage for Susceptibility Loci in Cancer
Richard A Kerber, Christopher I Amos, Beow Y Yeap, Dianne M Finkelstein, Duncan C Thomas BMC Medical Genetics 2008, 9 :64 (10 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis Sreeram V Ramagopalan, David A Dyment, Katie M Morrison, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Lahiru Handunnetthi, Michael J Chao, A Dessa Sadovnick, George C Ebers BMC Medical Genetics 2008, 9 :63 (7 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE Anil D'souza, Biji T Kurien, Rosalie Rodgers, Jaideep Shenoi, Sadamu Kurono, Hiroyuki Matsumoto, Kenneth Hensley, Swapan K Nath, R Hal Scofield BMC Medical Genetics 2008, 9 :62 (7 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Deciphering downstream gene targets of PI3K/mTOR/p70S6K pathway in breast cancer Henna Heinonen, Anni Nieminen, Matti Saarela, Anne Kallioniemi, Juha Klefstrom, Sampsa Hautaniemi, Outi Monni BMC Genomics 2008, 9 :348 (24 [Abstract ] [Provisional PDF ]
Review
Alpha-mannosidosis Dag Malm, Oivind Nilssen Orphanet Journal of Rare Diseases 2008, 3 :21 (23 [Abstract ] [Provisional PDF ]
Review
A comprehensive review of the genetics of juvenile idiopathic arthritis Sampath Prahalad, David N Glass Pediatric Rheumatology 2008, 6 :11 (21 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
FISH mapping of Philadelphia negative BCR/ABL1 positive CML
Anna Virgili, Diana Brazma, Alistar G Reid, Julie Howard-Reeves, Mikel Valganon, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace, Ellie P Nacheva Molecular Cytogenetics 2008, 1 :14 (18 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population Ana I Freitas, Isabel Mendonca, Maria Brion, Miguel M Sequeira, Roberto P Reis, Angel Carracedo, Antonio Brehm BMC Cardiovascular Disorders 2008, 8 :15 (17 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Software
Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge Don L Armstrong, Chaim O Jacob, Raphael Zidovetzki BMC Bioinformatics 2008, 9 :311 (17 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer E Thirthagiri, SY Lee, P Kang, DS Lee, GT Toh, S Selamat, S-Y Yoon, NA Mohd Taib, MK Thong, CH Yip, SH Teo Breast Cancer Research 2008, 10 :R59 (16 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Different outcome of six homozygotes for prothrombin A20210A gene variant Pierpaolo Di Micco, Rosanna Di Fiore, Alferio Niglio, Sandro Quaranta, Antonella Angiolillo, Giuseppe Cardillo, Giuseppe Castaldo Journal of Translational Medicine 2008, 6 :36 (15 [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Methodology
MalHaploFreq: A computer programme for estimating malaria haplotype frequencies from blood samples Ian M Hastings, Thomas A Smith Malaria Journal 2008, 7 :130 (15 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
The association of APOE genotype and cognitive decline in interaction with risk factors in a 65-69 year old community sample Helen Christensen, Philip J Batterham, Andrew J Mackinnon, Anthony F Jorm, Holly A Mack, Karen A Mather, Kaarin J Anstey, Perminder S Sachdev, Simon Easteal BMC Geriatrics 2008, 8 :14 (14 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
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