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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.
Featured articles
BMC Medical Genetics 2009, 10 :104
Genotyping analysis of the largest cohort of patients with malignant hyperthermia to date identifies a potentially pathogenic change in the CACNA1S gene and highlights the variability of this gene among people with this skeletal muscle disorder.
BMC Medical Genetics 2009, 10 :98
Meta-analysis of three genome-wide association studies has uncovered five single nucleotide polymorphisms (SNPs) involved in endocytosis and lysosomal sorting that are potentially linked to the onset age of Parkinson disease.
BMC Medical Genetics 2009, 10 :89
A combination of array comparative genomic hybridization and flow cytometry analysis outperforms conventional karyotyping for the detection of chromosomal abnormalities in miscarriage samples.
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Research article
Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation Liu Yuqi, Li Yang, Li Zongbin, Xu Hua, Wen Yi, Wang Lin, Guan Minxin, Gao Lei, Wang Shiwen BMC Medical Genetics 2009, 10 :114 (9 [Abstract ] [Provisional PDF ]
Research article
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease Marilene Pavan, Vivane F Ruiz, Fabio A Silva, Tiago J Sobreira, Roberta M Cravo, Michelle Vasconcelos, Livia P Marques, Sonia MF Mesquita, Jose E Krieger, Antonio AB Lopes, Paulo S Oliveira, Alexandre C Pereira, Jose Xavier-Neto BMC Medical Genetics 2009, 10 :113 (3 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
PLAUR polymorphisms and lung function in UK smokers Ceri E Stewart, Ian P Hall, Stuart G Parker, Miriam F Moffatt, Andrew J Wardlaw, Martin J Connolly, Charlotte Ruse, Ian Sayers BMC Medical Genetics 2009, 10 :112 (31 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis Suet Nee Chen, Mehmet Cilingiroglu, Joshua Todd, Raffaella Lombardi, James T Willerson, Antonio M Gotto Jr, Christie M Ballantne, A J Marian BMC Medical Genetics 2009, 10 :111 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Telomere shortening may be associated with human keloids Bruna De Felice, Robert R Wilson, Massimo Nacca BMC Medical Genetics 2009, 10 :110 (28 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Variation in cytokine genes can contribute to severity of acetabular osteolysis and risk for revision in patients with ABG 1 total hip arthroplasty: a genetic association study Jiri Gallo, Frantisek Mrazek, Martin Petrek BMC Medical Genetics 2009, 10 :109 (27 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic Study Audrey Y Chu, Rulan S Parekh, Brad C Astor, Josef Coresh, Yvette Berthier-Schaad, Michael W Smith, Alan R Shuldiner, Wen Hong L Kao BMC Medical Genetics 2009, 10 :108 (23 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Suggestive linkage detected for blood pressure related traits on 2q and 22q in the population on the Samoan islands Karolina BMC Medical Genetics 2009, 10 :107 (23 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Genetic effect of CysLTR2 polymorphisms on its mRNA synthesis and stabilization Jeong-Ah Shin, Hun Soo Chang, Se-Min Park, An-Soo Jang, Sung Woo Park, Jong Sook Park, Soo-Taek Uh, Gune Il Lim, Taiyoun Rhim, Mi-Kyeong Kim, Inseon S Choi, Il Yup Chung, Byung Lae Park, Hyoung Doo Shin, Choon-Sik Park BMC Medical Genetics 2009, 10 :106 (20 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene Rowena J Keyser, Lize van der Merwe, Mauritz Venter, Craig Kinnear, Louise Warnich, Jonathan Carr, Soraya Bardien BMC Medical Genetics 2009, 10 :105 (13 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research
Association of mannose-binding lectin-2 genotype and serum levels with prognosis of sepsis Jin Won Huh, Kyuyoung Song, Jung-Sun Yum, Sang-Bum Hong, Chae-Man Lim, Younsuck Koh Critical Care 2009, 13 :R176 (5 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Inhibition of Monkeypox virus replication by RNA interference Abdulnaser Alkhalil, Sarah Strand, Eric Mucker, John W Huggins, Peter B Jahrling, Sofi M Ibrahim Virology Journal 2009, 6 :188 (4 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frederique Bena, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola Orphanet Journal of Rare Diseases 2009, 4 :25 (4 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Review
microRNAs and genetic diseases Nicola Meola, Vincenzo Alessandro Gennarino, Sandro Banfi PathoGenetics 2009, 2 :7 (4 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure Alfredo Jose Mansur, Rosana Seleri Fontes, Regina Airoldi Canzi, Raphael Nishimura, Ailane Pereira Alencar, Antonio Carlos Pedroso Lima, Jose Eduardo Krieger, Alexandre C Pereira BMC Cardiovascular Disorders 2009, 9 :50 (3 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Case Report
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi Orphanet Journal of Rare Diseases 2009, 4 :24 (2 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2
founder mutation: an evaluation using modified segregation models Karen A Kopciuk, Yun-Hee Choi, Elena Parkhomenko, Patrick Parfrey, John McLaughlin, Jane Green, Laurent Briollais Hereditary Cancer in Clinical Practice 2009, 7 :16 (28 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast Matjaz Vogelsang, Aleksandra Comino, Neja Zupanec, Petra Hudler, Radovan Komel BMC Cancer 2009, 9 :382 (28 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Original research
Common mitochondrial polymorphisms as risk factor for endometrial cancer Anna M Czarnecka, Aleksandra Klemba, Andrzej Semczuk, Katarzyna Plak, Barbara Marzec, Tomasz Krawczyk, Barbara Kofler, Pawel Golik, Ewa Bartnik International Archives of Medicine 2009, 2 :33 (28 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Review
LINE dancing in the human genome: transposable elements and disease Victoria P Belancio, Prescott L Deininger, Astrid M Roy-Engel Genome Med 2009, 1 :97 (27 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Featured articles 
berg, Feng Dai, Satupaitea Viali, John Tuitele, Guangyun Sun, Subba R Indugula, Ranjan Deka, Daniel E Weeks, Stephen T McGarvey
