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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
Characterisation of CYP2C8, CYP2C9 and CYP2C19 polymorphisms in a Ghanaian population
William Kudzi, Alexander N.O Dodoo, Jeremy J Mills
BMC Medical Genetics 2009, 10:124 (2December2009)
[Abstract] [Provisional PDF]

Research article
Analyses of associations between three positionally cloned asthma candidate genes and asthma or asthma-related phenotypes in a Chinese population
Huanyu Zhou, Xiumei Hong, Shanqun Jiang, Hongxing Dong, Xiping Xu, Xin Xu
BMC Medical Genetics 2009, 10:123 (1December2009)
[Abstract] [Provisional PDF]

Research article
Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
Elin S Blom, Vilmantas Giedraitis, Sampath Arepalli, Marian L Hamshere, Omanma Adighibe, Alison Goate, Julie Williams, Lars Lannfelt, John Hardy, Fabienne Wavrant-De Vrieze, Anna Glaser
BMC Medical Genetics 2009, 10:122 (1December2009)
[Abstract] [Provisional PDF]

Research article
Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
Edward J Carr, Heather A Niederer, Julie Williams, Lorraine Harper, Richard A Watts, Paul A Lyons, Kenneth GC Smith
BMC Medical Genetics 2009, 10:121 (1December2009)
[Abstract] [Provisional PDF]

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 (21November2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Research article
A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique
Roco Nez-Torres, Raquel M Fernndez, Manuel Lpez-Alonso, Guillermo Antiolo, Salud Borrego
BMC Medical Genetics 2009, 10:119 (19November2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

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 (18November2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

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 (16November2009)
[Abstract] [Full text] [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 (13November2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
PIN1 gene variants in Alzheimer's disease
Aleksandra Maruszak, Krzysztof Safranow, Katarzyna Gustaw, Beata Kijanowska-Haadyna, Katarzyna Jakubowska, Maria Olszewska, Maria Styczyska, Mariusz Berdyski, Andrzej Tysarowski, Dariusz Chlubek, Janusz Siedlecki, Maria Barcikowska, Cezary ekanowski
BMC Medical Genetics 2009, 10:115 (12November2009)
[Abstract] [Full text] [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 (9November2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease
Marilene Pavan, Viviane F Ruiz, Fbio A Silva, Tiago J Sobreira, Roberta M Cravo, Michelle Vasconcelos, Lvia P Marques, Sonia MF Mesquita, Jos E Krieger, Antnio AB Lopes, Paulo S Oliveira, Alexandre C Pereira, Jos Xavier-Neto
BMC Medical Genetics 2009, 10:113 (3November2009)
[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 Moffat, Andrew J Wardlaw, Martin J Connolly, Charlotte Ruse, Ian Sayers
BMC Medical Genetics 2009, 10:112 (31October2009)
[Abstract] [Full text] [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 (30October2009)
[Abstract] [Full text] [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 (28October2009)
[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 (27October2009)
[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 (23October2009)
[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 berg, Feng Dai, Satupaitea Viali, John Tuitele, Guangyun Sun, Subba R Indugula, Ranjan Deka, Daniel E Weeks, Stephen T McGarvey
BMC Medical Genetics 2009, 10:107 (23October2009)
[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 (20October2009)
[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 (13October2009)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

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