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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, EMBASE, Scopus, 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
Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia Levente Lazar, Janos Rigo Jr, Balint Nagy, Krisztian Balogh, Veronika Mako, Laszlo Cervenak, Miklos Mezes, Zoltan Prohaszka, Attila Molvarec BMC Medical Genetics 2009, 10 :120 (21 [Abstract ] [Provisional PDF ]
Research article
A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique. Rocio Nunez-Torres, Raquel M Fernandez, Manuel Lopez-Alonso, Guillermo Antinolo, Salud Borrego BMC Medical Genetics 2009, 10 :119 (19 [Abstract ] [Provisional PDF ]
Research article
Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population Chong Shen, Xiangfeng Lu, Yun Li, Qi Zhao, Xiaoli Liu, Liping Hou, Laiyuan Wang, Shufeng Chen, Jianfeng Huang, Dongfeng Gu BMC Medical Genetics 2009, 10 :118 (18 [Abstract ] [Provisional PDF ]
Research article
Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma Johanna M Schuetz, Amy C MacArthur, Stephen Leach, Agnes S Lai, Richard P Gallagher, Joseph M Connors, Randy D Gascoyne, John J Spinelli, Angela R Brooks-Wilson BMC Medical Genetics 2009, 10 :117 (16 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Molecular analysis of T- B- NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia Osama Alsmadi, Abdulaziz Al-Ghonaium, Saleh Al-Muhsen, Rand Arnaout, Hasan Al-Dhekri, Bandar Al-Saud, Fadi Al-Kayal, Haya Al-Saud, Hamoud Al-Mousa BMC Medical Genetics 2009, 10 :116 (13 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
PIN1 gene variants in Alzheimer's disease Aleksandra Maruszak, Krzysztof Safranow, Katarzyna Gustaw, Beata Kijanowska-Haladyna, Katarzyna Jakubowska, Maria Olszewska, Maria Styczynska, Mariusz Berdynski, Andrzej Tysarowski, Dariusz Chlubek, Janusz Siedlecki, Maria Barcikowska, Cezary Zekanowski BMC Medical Genetics 2009, 10 :115 (12 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation Liu Yuqi, Gao Lei, Li Yang, Li Zongbin, Xu Hua, Wang Lin, Chen Rui, Liu Mohan, Wen Yi, Guan Minxin, Wang Shiwen BMC Medical Genetics 2009, 10 :114 (9 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease Marilene Pavan, Viviane F Ruiz, F BMC Medical Genetics 2009, 10 :113 (3 [Abstract ] [Full text ] [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, Josh Todd, Raffaella Lombardi, James T Willerson, Antonio M Gotto Jr, Christie M Ballantyne, AJ Marian BMC Medical Genetics 2009, 10 :111 (30 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Polymorphisms in the xenobiotic transporter Multidrug Resistance 1 (MDR1) gene and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study. Vibeke Andersen, Mette Ostergaard, Jane Christensen, Kim Overvad, Anne Tjonneland, Ulla Vogel BMC Cancer 2009, 9 :407 (21 [Abstract ] [Provisional PDF ]
Research article
The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: a case-control study
Adela Castillejo, Trinidad Mata-Balaguer, Carla Guarinos, Maria-Isabel Castillejo, Ana Martinez-Canto, Victor-Manuel Barbera, Paola Montenegro, Enrique Ochoa, Rafael Lazaro, Carmen Guillen-Ponce, Alfredo Carrato, Jose LUIS Soto BMC Cancer 2009, 9 :406 (20 [Abstract ] [Provisional PDF ]
Minireview
A role for neurotransmission and neurodevelopment in attention-deficit/hyperactivity disorder Tatiana Roman, Luis A Rohde, Mara H Hutz Genome Med 2009, 1 :107 (19 [Abstract ] [Full text ] [PDF ]
Technical advance
Molecular testing for adult type Alport syndrome Genevieve Pont-Kingdon, Kelli Sumner, Friederike Gedge, Chris Miller, Joyce Denison, Martin Gregory, Elaine Lyon BMC Nephrology 2009, 10 :38 (17 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
XPD Codon 312 and 751 Polymorphisms, and AFB1 Exposure, and Hepatocellular Carcinoma Risk Xi Dai Long, Yun Ma, Yun Feng Zhou, Jin Guang Yao, Fu Zhi Ban, Yong Zhi Huang, Bing Cheng Huang BMC Cancer 2009, 9 :400 (17 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia Fabiana Paladini, Francesca Belfiore, Elisa Cocco, Carlo Carcassi, Alberto Cauli, Alessandra Vacca, Maria Teresa Fiorillo, Alessandro Mathieu, Isabella Cascino, Rosa Sorrentino Arthritis Research & Therapy 2009, 11 :R171 (13 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Commentary
Reporting and evaluating genetic association studies Stephen P Peters Respiratory Research 2009, 10 :109 (12 [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Case Report
Pelvic mass in von Recklinghausen's neurofibromatosis: diagnostic issues: a case report Nicolas Kluger, H Cases Journal 2009, 2 :191 (12 [Abstract ] [Full Text ] [PDF ]
Primary research
INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signalingStephanie Filleur, Jennifer Hirsch, Aline Wille, Margarete Sch Cancer Cell International 2009, 9 :28 (11 [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Research article
B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han populationJie Zhang, Mingyan Zhang, Wei Jiang, Lihong Wang, Zhenkun Fu, Dalin Li, Da Pang, Dianjun Li BMC Cancer 2009, 9 :394 (11 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
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