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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




BMC Medical Genetics, Volume 3

 

 

 

Research article
An Improved RSP Method to Detect HpaI Polymorphism in the Apolipoprotein C-1 Gene Promoter
Li Gao, Curt Gabriel, Tera Lavoie, Shui Qing Ye
BMC Medical Genetics 2002, 3:13 (12November2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Francke
BMC Medical Genetics 2002, 3:12 (5November2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research article
Telomerase activity in human leukemic cells with or without monosomy 7 or 7q-
Nedime Serakinci, Jrn E Koch
BMC Medical Genetics 2002, 3:11 (29October2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
Dominique P Germain, Paul Avan, Augustin Chassaing, Pierre Bonfils
BMC Medical Genetics 2002, 3:10 (11October2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research article
HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama
James C Barton, Ronald T Acton
BMC Medical Genetics 2002, 3:9 (7October2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research article
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique
Federica Sangiuolo, Emanuela Bruscia, Annalucia Serafino, Anna Maria Nardone, Emanuela Bonifazi, Monica Lais, Dieter C Gruenert, Giuseppe Novelli
BMC Medical Genetics 2002, 3:8 (23September2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Search for intracranial aneurysm susceptibility gene(s) using Finnish families
Jane M Olson, Sompong Vongpunsawad, Helena Kuivaniemi, Antti Ronkainen, Juha Hernesniemi, Markku Ryynnen, Lee-Lian Kim, Gerard Tromp
BMC Medical Genetics 2002, 3:7 (1August2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research article
SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method
Teruaki Tozaki, Nam-Ho Choi-Miura, Matsuo Taniyama, Masahiko Kurosawa, Motowo Tomita
BMC Medical Genetics 2002, 3:6 (29July2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
Emiliano Giardina, Francesca Capon, M Rosaria D'Apice, Francesca Amati, Franco Arturi, Sebastiano Filetti, Emanuela Bonifazi, Sabina Pucci, Chiara Conte, Giuseppe Novelli
BMC Medical Genetics 2002, 3:5 (23July2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the ret proto-oncogene related to MEN 2A.
Mara Roqu, Eduardo Pusiol, Hctor Perinetti, Clara Pott Godoy, Luis S Mayorga
BMC Medical Genetics 2002, 3:4 (21May2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]

Research article
PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients
Bianca Miterski, Eckhart Sindern, Michael Haupts, Sebastian Schimrigk, Joerg T Epplen
BMC Medical Genetics 2002, 3:3 (16May2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research article
A role for the collagen I/III and MMP-1/-13 genes in primary inguinal hernia?
Raphael Rosch, Uwe Klinge, Zhongyi Si, Karsten Junge, Bernd Klosterhalfen, Volker Schumpelick
BMC Medical Genetics 2002, 3:2 (19February2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Study protocol
The Siblings With Ischemic Stroke Study (SWISS) Protocol
James F Meschia, Robert D Brown Jr, Thomas G Brott, Felix E Chukwudelunzu, John Hardy, Stephen S Rich
BMC Medical Genetics 2002, 3:1 (12February2002)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

 

 

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