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Editor-in-Chief
Melissa Norton, MD Medical Editor
Jigisha Patel, MRCP PhD In-house Editor
Scott Edmunds
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| | BMC Medical Genetics, Volume 7 |
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Research article
 
Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population
Moeenaldeen Al-Sayed, Faiqa Imtiaz, Osama A Alsmadi, Mohammed S Rashed, Brian F Meyer
BMC Medical Genetics 2006, 7:86 (16December2006)
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Research article
 2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus
Michele Pinelli, Manuela Giacchetti, Fabio Acquaviva, Sergio Cocozza, Giovanna Donnarumma, Emanuela Lapice, Gabriele Riccardi, Geremia Romano, Olga Vaccaro, Antonella Monticelli
BMC Medical Genetics 2006, 7:85 (6December2006)
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Case report
A novel mutation in the SH3BP2 gene causes cherubism: case report
Cui-Ying Li, Shi-Feng Yu
BMC Medical Genetics 2006, 7:84 (5December2006)
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Research article
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families
Darroch H Hall, Thahira Rahman, Peter J Avery, Bernard Keavney
BMC Medical Genetics 2006, 7:83 (30November2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Case report
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report
Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, V ronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Jean-Louis Dufier, Maurice Menasche, Marc Abitbol
BMC Medical Genetics 2006, 7:82 (29November2006)
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Correspondence
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis
Caitriona King, David E Barton
BMC Medical Genetics 2006, 7:81 (29November2006)
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Research article
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Lisbet K Lind, Christina Stecksn-Blicks, Kristina Lejon, Marcus Schmitt-Egenolf
BMC Medical Genetics 2006, 7:80 (24November2006)
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Research article
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease
Maren Mai, Amer D Akkad, Stefan Wieczorek, Carsten Saft, J rgen Andrich, Peter H Kraus, J rg T Epplen, Larissa Arning
BMC Medical Genetics 2006, 7:79 (10November2006)
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Research article
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke
Ana VC Dutra, Hsiu-Fen Lin, Suh-Hang H Juo, Harvey Mohrenweiser, Souvik Sen, Raji P Grewal
BMC Medical Genetics 2006, 7:78 (6November2006)
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Research article
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria T Divizia, Maria L Giovannucci Uzielli, Giovanni Neri, Maria F Bedeschi, Francesca Faravelli, Angelo Selicorni, Lidia Larizza
BMC Medical Genetics 2006, 7:77 (19October2006)
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Research article
Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans
Giriraj R Chandak, Kirsten J Ward, Chittaranjan S Yajnik, Anand N Pandit, Ashish Bavdekar, Charu V Joglekar, Caroline HD Fall, P Mohankrishna, Terence J Wilkin, Bradley S Metcalf, Michael N Weedon, Timothy M Frayling, Andrew T Hattersley
BMC Medical Genetics 2006, 7:76 (10October2006)
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Research article
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
Sunita Saxena, Anurupa Chakraborty, Mishi Kaushal, Sanjeev Kotwal, Dinesh Bhatanager, Ravindar S Mohil, Chintamani Chintamani, Anil K Aggarwal, Veena K Sharma, Prakash C Sharma, Gilbert Lenoir, David E Goldgar, Csilla I Szabo
BMC Medical Genetics 2006, 7:75 (4October2006)
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Study protocol
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
Blair H Smith, Harry Campbell, Douglas Blackwood, John Connell, Mike Connor, Ian J Deary, Anna F Dominiczak, Bridie Fitzpatrick, Ian Ford, Cathy Jackson, Gillian Haddow, Shona Kerr, Robert Lindsay, Mark McGilchrist, Robin Morton, Graeme Murray, Colin NA Palmer, Jill P Pell, Stuart H Ralston, David St Clair, Frank Sullivan, Graham Watt, Roland Wolf, Alan Wright, David Porteous, Andrew D Morris
BMC Medical Genetics 2006, 7:74 (2October2006)
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Research article
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients
Nikita Thakur, D Nageshwar Reddy, G Venkat Rao, P Mohankrishna, Lalji Singh, Giriraj R Chandak
BMC Medical Genetics 2006, 7:73 (30September2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
Chia-Cheng Hung, Yi-Ning Su, Shu-Chin Chien, Horng-Huei Liou, Chih-Chuan Chen, Pau-Chung Chen, Chia-Jung Hsieh, Chih-Ping Chen, Wang-Tso Lee, Win-Li Lin, Chien-Nan Lee
BMC Medical Genetics 2006, 7:72 (18September2006)
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Research article
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study
Jian-Liang Li, Michael R Hayden, Simon C Warby, Alexandra Durr, Patrick J Morrison, Martha Nance, Christopher A Ross, Russell L Margolis, Adam Rosenblatt, Ferdinando Squitieri, Luigi Frati, Estrella G mez-Tortosa, Carmen Ayuso Garc a, Oksana Suchowersky, Mary Lou Klimek, Ronald JA Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Jane S Paulsen, Randi Jones, Tetsuo Ashizawa, Alice Lazzarini, Vanessa C Wheeler, Ranjana Prakash, Gang Xu, Luc Djouss, Jayalakshmi Srinidhi Mysore, Tammy Gillis, Michael Hakky, et al.
BMC Medical Genetics 2006, 7:71 (17August2006)
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Research article
Potassium channel gene mutations rarely cause atrial fibrillation
Patrick T Ellinor, Vadim I Petrov-Kondratov, Elena Zakharova, Edwin G Nam, Calum A MacRae
BMC Medical Genetics 2006, 7:70 (3August2006)
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Technical advance
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)
Justin T Brown, Cora Lahey, Walairat Laosinchai-Wolf, Andrew G Hadd
BMC Medical Genetics 2006, 7:69 (3August2006)
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Research article
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma
Melinda M Pettigrew, Janneane F Gent, Yong Zhu, Elizabeth W Triche, Kathleen D Belanger, Theodore R Holford, Michael B Bracken, Brian P Leaderer
BMC Medical Genetics 2006, 7:68 (2August2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
Toru Ogata, Lucie Gregoire, Katrina AB Goddard, Magdalena Skunca, Gerard Tromp, Wayne D Lancaster, Antonio R Parrado, Qing Lu, Hidenori Shibamura, Natzi Sakalihasan, Raymond Limet, Gerald L MacKean, Claudette Arthur, Taijiro Sueda, Helena Kuivaniemi
BMC Medical Genetics 2006, 7:67 (31July2006)
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Research article
The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
David Evans, Frank U Beil
BMC Medical Genetics 2006, 7:66 (31July2006)
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Research article
Lack of MEF2A  7aa mutation in Irish families with early onset ischaemic heart disease, a family based study
Paul G Horan, Adrian R Allen, Anne E Hughes, Chris C Patterson, Mark Spence, Paul G McGlinchey, Christine Belton, Tracy CL Jardine, Pascal P McKeown
BMC Medical Genetics 2006, 7:65 (27July2006)
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Research article
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
Matthew J Bugeja, David Booth, Bruce Bennetts, Robert Heard, Justin Rubio, Graeme Stewart
BMC Medical Genetics 2006, 7:64 (26July2006)
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Research article
Three allele combinations associated with Multiple Sclerosis
Olga O Favorova, Alexander V Favorov, Alexey N Boiko, Timofey V Andreewski, Marina A Sudomoina, Alexey D Alekseenkov, Olga G Kulakova, Eugenyi I Gusev, Giovanni Parmigiani, Michael F Ochs
BMC Medical Genetics 2006, 7:63 (26July2006)
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Research article
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects
Steven C Elbein, Xiaoqin Wang, Mohammad A Karim, Winston S Chu, Kristi D Silver
BMC Medical Genetics 2006, 7:62 (25July2006)
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Research article
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
Ivan J Delgado, Dong Sun Kim, Karen N Thatcher, Janine M LaSalle, Ignatia B Van den Veyver
BMC Medical Genetics 2006, 7:61 (21July2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Case report
Familial deletion 18p syndrome: case report
Bruno Maranda, Nicole Lemieux, Emmanuelle Lemyre
BMC Medical Genetics 2006, 7:60 (14July2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
Nicole L Maciolek, Wallace LM Alward, Jeffrey C Murray, Elena V Semina, Mark T McNally
BMC Medical Genetics 2006, 7:59 (11July2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients
Juergen Borlak, Stella Marie Reamon-Buettner
BMC Medical Genetics 2006, 7:58 (9July2006)
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Research article
3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)
Claire Y Wang, Nguyen D Nguyen, Nigel A Morrison, John A Eisman, Jacqueline R Center, Tuan V Nguyen
BMC Medical Genetics 2006, 7:57 (5July2006)
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Research article
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
Javier Ortiz, Miguel Fern ndez-Arquero, Elena Urcelay, Raquel Lpez-Mejas, Antonio Ferreira, Gumersindo Fontn, Emilio G de la Concha, Alfonso Martnez
BMC Medical Genetics 2006, 7:56 (27June2006)
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Research article
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
Peter H Nissen, Dorte Damgaard, Anette Stenderup, Gitte G Nielsen, Mogens L Larsen, Ole F rgeman
BMC Medical Genetics 2006, 7:55 (26June2006)
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Research article
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
Jose Luis Santiago, Alfonso Martnez, Hermenegildo de la Calle, Miguel Fernndez-Arquero, M  ngeles Figueredo, Emilio G de la Concha, Elena Urcelay
BMC Medical Genetics 2006, 7:54 (23June2006)
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Research article
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jrgen Gilles, Jrg T Epplen, Moritz Meins
BMC Medical Genetics 2006, 7:53 (8June2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
E-selectin S128R polymorphism and severe coronary artery disease in Arabs
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
BMC Medical Genetics 2006, 7:52 (6June2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
Rachel M Freathy, Michael N Weedon, David Melzer, Beverley Shields, Graham A Hitman, Mark Walker, Mark I McCarthy, Andrew T Hattersley, Timothy M Frayling
BMC Medical Genetics 2006, 7:51 (5June2006)
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Research article
Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity
Amelia Marti, M Carmen Ochoa, Almudena Snchez-Villegas, J Alfredo Martnez, Miguel Angel Martnez-Gonzlez, Johannes Hebebrand, Anke Hinney, Helmut Vedder
BMC Medical Genetics 2006, 7:50 (25May2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [1 comment]
Research article
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3
Mahboob A Chowdhury, Helena Kuivaniemi, Roberto Romero, Samuel Edwin, Tinnakorn Chaiworapongsa, Gerard Tromp
BMC Medical Genetics 2006, 7:49 (23May2006)
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Research article
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
Elena Snchez, Jos M Sabio, Jos L Callejas, Enrique de Ramn, Rosa Garcia-Portales, Francisco J Garca-Hernndez, Juan Jimnez-Alonso, Ma Francisca Gonzlez-Escribano, Javier Martn, Bobby P Koeleman
BMC Medical Genetics 2006, 7:48 (23May2006)
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Research article
Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5
J lia M Pavan Soler, Alexandre C Pereira, Csar H T rres, Jos E Krieger
BMC Medical Genetics 2006, 7:47 (22May2006)
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Research article
BAC-FISH refutes report of an 8p22 8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
Kendra W Kimberley, Colleen A Morris, Holly H Hobart
BMC Medical Genetics 2006, 7:46 (18May2006)
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Research article
Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies
Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente, Albert Cobos
BMC Medical Genetics 2006, 7:45 (8May2006)
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Research article
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
Claire Cheyssac, Ccile Lecoeur, Aurlie Dechaume, Amina Bibi, Guillaume Charpentier, Beverley Balkau, Michel Marre, Philippe Froguel, Fernando Gibson, Martine Vaxillaire
BMC Medical Genetics 2006, 7:44 (5May2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study
Osama A Alsmadi, Fadi Al-Kayal, Mohamed Al-Hamed, Brian F Meyer
BMC Medical Genetics 2006, 7:43 (3May2006)
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Research article
Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms
Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, AK Sharma, AR Rao, R Nagendra, T Satish Chandra, SC Tiwari, Priyanka Rastogi, B Lal Gupta, BK Thelma
BMC Medical Genetics 2006, 7:42 (3May2006)
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Research article
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Hl ne Mayeur, Olivier Roche, Christelle V tu, Carolina Jaliffa, Dominique Marchant, Hlne Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Hon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan, Jean-Louis Dufier, Ccile Marsac, Maurice Menasche, Marc Abitbol
BMC Medical Genetics 2006, 7:41 (28April2006)
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Research article
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection
Angels Natividad, Graham Cooke, Martin J Holland, Matthew J Burton, Hassan M Joof, Kirk Rockett, Dominic P Kwiatkowski, David CW Mabey, Robin L Bailey
BMC Medical Genetics 2006, 7:40 (27April2006)
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Research article
A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study
Folkert W Asselbergs, Jason H Moore, Maarten P van den Berg, Eric B Rimm, Rudolf A de Boer, Robin P Dullaart, Gerjan Navis, Wiek H van Gilst
BMC Medical Genetics 2006, 7:39 (19April2006)
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Research article
T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
BMC Medical Genetics 2006, 7:38 (19April2006)
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Research article
Deletions in the Y-derived amelogenin gene fragment in the Indian population
VK Kashyap, Sanghamitra Sahoo, T Sitalaximi, R Trivedi
BMC Medical Genetics 2006, 7:37 (10April2006)
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Research article
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism
Ta-Chin Lin, Jui-Mei Yen, Kum-Bing Gong, Tsung-Cheng Kuo, Dong-Chi Ku, Shu-Fen Liang, Ming-Jiuan Wu
BMC Medical Genetics 2006, 7:36 (7April2006)
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Research article
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
Mara Jos Gamundi, Imma Hernan, Mara Martnez-Gimeno, Miquel Maseras, Blanca Garca-Sandoval, Carmen Ayuso, Guillermo Anti olo, Montserrat Baiget, Miguel Carballo
BMC Medical Genetics 2006, 7:35 (5April2006)
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Software
GAIA: An easy-to-use web-based application for interaction analysis of case-control data
Stuart Macgregor, Imtiaz A Khan
BMC Medical Genetics 2006, 7:34 (5April2006)
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Research article
Production and characterization of murine models of classic and intermediate maple syrup urine disease
Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins, Harbhajan S Paul
BMC Medical Genetics 2006, 7:33 (31March2006)
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Research article
Interleukin-10 haplotypes in Celiac Disease in the Spanish population
Concepcin Nez, Diana Alecsandru, Jezabel Varad, Isabel Polanco, Carlos Maluenda, Miguel Fernndez-Arquero, Emilio G de la Concha, Elena Urcelay, Alfonso Martnez
BMC Medical Genetics 2006, 7:32 (31March2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
BMC Medical Genetics 2006, 7:31 (30March2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease
Juergen Borlak, Stella Marie Reamon-Buettner
BMC Medical Genetics 2006, 7:30 (29March2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins, Bongani M Mayosi
BMC Medical Genetics 2006, 7:29 (28March2006)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Paraoxonase gene polymorphisms and haplotype analysis in a stroke population
Alireza Pasdar, Helen Ross-Adams, Alastair Cumming, John Cheung, Lawrence Whalley, David St Clair, Mary-Joan MacLeod
BMC Medical Genetics 2006, 7:28 (21March2006)
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