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Editor-in-Chief
Melissa Norton, MD Medical Editor
Jigisha Patel, MRCP PhD In-house Editor
Scott Edmunds PhD
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| | BMC Medical Genetics, Volume 9 |
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Database
 
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
Jean-Pierre Bayley, Virpi Launonen, Ian PM Tomlinson
BMC Medical Genetics 2008, 9:20 (25March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genetic association study of synphilin-1 in idiopathic Parkinson's disease
Ronny Myhre, Helge Klungland, Matthew J Farrer, Jan O Aasly
BMC Medical Genetics 2008, 9:19 (21March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis
Clare C Constantine, Lyle C Gurrin, Christine E McLaren, Melanie Bahlo, Gregory J Anderson, Chris D Vulpe, Susan M Forrest, Katrina J Allen, Dorota M Gertig, the HealthIron Investigators
BMC Medical Genetics 2008, 9:18 (20March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission
Ariel T Arthur, Patricia J Armati, Chris Bye, Southern MS Genetics Consortium, Robert NS Heard, Graeme J Stewart, John D Pollard, David R Booth
BMC Medical Genetics 2008, 9:17 (19March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis
Swapan K Das, Neeraj K Sharma, Winston S Chu, Hua Wang, Steven C Elbein
BMC Medical Genetics 2008, 9:16 (17March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genetic variability of histamine receptors in patients with Parkinson's disease
Elena Garc a-Martn, P Ayuso, Antonio Luengo, Carmen Martnez, Jos AG Ag ndez
BMC Medical Genetics 2008, 9:15 (17March2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Evaluating the association of common PBX1 variants with type 2 diabetes
Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel, Fernando Gibson
BMC Medical Genetics 2008, 9:14 (29February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Role of TGF- 1 haplotypes in the occurrence of myocardial infarction in young Italian patients
Francesca Crobu, Luigi Palumbo, Erica Franco, Serena Bergerone, Sonia Carturan, Simonetta Guarrera, Simone Frea, Gianpaolo Trevi, Alberto Piazza, Giuseppe Matullo
BMC Medical Genetics 2008, 9:13 (29February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins
Claire MA Haworth, Lee M Butcher, Sophia J Docherty, Jane Wardle, Robert Plomin
BMC Medical Genetics 2008, 9:12 (27February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26
Maribeth A Lazzaro, Matthew AM Todd, Paul Lavigne, Dominic Vallee, Adriana De Maria, David J Picketts
BMC Medical Genetics 2008, 9:11 (26February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Functional characterisation of the TSC1 TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
Mark Nellist,  zg r Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland, Dicky Halley
BMC Medical Genetics 2008, 9:10 (26February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol
Melanie Kolz, Jens Baumert, Martina Mller, Natalie Khuseyinova, Norman Klopp, Barbara Thorand, Christine Meisinger, Christian Herder, Wolfgang Koenig, Thomas Illig
BMC Medical Genetics 2008, 9:9 (25February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population
Simon D Rees, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett, M Ann Kelly
BMC Medical Genetics 2008, 9:8 (21February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Technical advance
Multiple strand displacement amplification of mitochondrial DNA from clinical samples
Samantha Maragh, John P Jakupciak, Paul D Wagner, William N Rom, David Sidransky, Sudhir Srivastava, Catherine D O'Connell
BMC Medical Genetics 2008, 9:7 (7February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Complex aetiology of an apparently Mendelian form of Mental Retardation
Ana Beleza-Meireles, Ingrid Kockum, Qiu-Ping Yuan, Simone Picelli, Lennart Wetterberg, Karl-Henrik Gustavson, Martin Schalling
BMC Medical Genetics 2008, 9:6 (6February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity
Bao Jian Fan, Louis Pasquale, Cynthia L Grosskreutz, Douglas Rhee, Teresa Chen, Margaret M DeAngelis, Ivana Kim, Elizabeth del Bono, Joan W Miller, Tiansen Li, Jonathan L Haines, Janey L Wiggs
BMC Medical Genetics 2008, 9:5 (6February2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs
R Arlen Price, Wei-Dong Li, Hongyu Zhao
BMC Medical Genetics 2008, 9:4 (24January2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia
Maristella Pitzalis, Patrizia Zavattari, Raffaele Murru, Elisabetta Deidda, Magdalena Zoledziewska, Daniela Murru, Loredana Moi, Costantino Motzo, Valeria Orr , Gianna Costa, Elisabetta Solla, Elisabetta Fadda, Lucia Schirru, Maria Cristina Melis, Marina Lai, Cristina Mancosu, Stefania Tranquilli, Stefania Cuccu, Marcella Rolesu, Maria Antonietta Secci, Daniela Corongiu, Daniela Contu, Rosanna Lampis, Annalisa Nucaro, Gavino Pala, Adolfo Pacifico, Mario Maioli, Paola Frongia, Margherita Chessa, Rossella Ricciardi, et al.
BMC Medical Genetics 2008, 9:3 (20January2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [F1000 Biology]
Research article
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay
Josef Davidsson, Anna Collin, Gudrun Bj rkhem, Maria Soller
BMC Medical Genetics 2008, 9:2 (14January2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism
Thayne L Sweeten, Daniel W Odell, J Dennis Odell, Anthony R Torres
BMC Medical Genetics 2008, 9:1 (7January2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
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