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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 5 |
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Research article
 
Catechol-O-Methyltransferase (COMT) Val108/158 Met polymorphism does not modulate executive function in children with ADHD
Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron, Ridha Joober
BMC Medical Genetics 2004, 5:30 (21December2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population
James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon, Ronald T Acton
BMC Medical Genetics 2004, 5:29 (20December2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Men's values-based factors on prostate cancer risk genetic testing: A telephone survey
David J Doukas, Yuelin Li
BMC Medical Genetics 2004, 5:28 (10December2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Neural network analysis in pharmacogenetics of mood disorders
Alessandro Serretti, Enrico Smeraldi
BMC Medical Genetics 2004, 5:27 (9December2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker, O Colin Stine
BMC Medical Genetics 2004, 5:26 (26October2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
HLA haplotypes associated with hemochromatosis mutations in the Spanish population
Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel Garc a-Berciano, Luis Gonz lez, Pablo Morales
BMC Medical Genetics 2004, 5:25 (21October2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell, Edward R Wilcox
BMC Medical Genetics 2004, 5:24 (24September2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Study protocol
What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors?  Protocol of a systematic review
M Scharplatz, MA Puhan, J Steurer, LM Bachmann
BMC Medical Genetics 2004, 5:23 (10September2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe
BMC Medical Genetics 2004, 5:22 (2September2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour, Walter J Muir
BMC Medical Genetics 2004, 5:21 (13August2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E BaileyWilson, Dwight Stambolian
BMC Medical Genetics 2004, 5:20 (3August2004)
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Research article
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
Mireille Claustres, Jean-Pierre Alti ri, Caroline Guittard, Carine Templin, Fran oise Chevalier-Porst, Marie Des Georges
BMC Medical Genetics 2004, 5:19 (2August2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The impact of population heterogeneity on risk estimation in genetic counseling
Wenlei Liu, Nikolina Icitovic, Michele L Shaffer, Gary A Chase
BMC Medical Genetics 2004, 5:18 (30June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald, Michael A Walter
BMC Medical Genetics 2004, 5:17 (25June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
HNPCC: Six new pathogenic mutations
Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann, Wolff Schmiegel
BMC Medical Genetics 2004, 5:16 (24June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults
Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner, Ralf Weiskirchen
BMC Medical Genetics 2004, 5:15 (22June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease
Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux, Benjamin Tycko
BMC Medical Genetics 2004, 5:14 (2June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes
Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald, Denis C Shields
BMC Medical Genetics 2004, 5:13 (1June2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes
Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe, Jonathan L Haines
BMC Medical Genetics 2004, 5:12 (5May2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Correction
Correction: 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 2004, 5:11 (23April2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Case report
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence, Moyra Smith
BMC Medical Genetics 2004, 5:10 (16April2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
PAX6 gene variations associated with aniridia in south India
Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant, Periasamy Sundaresan
BMC Medical Genetics 2004, 5:9 (16April2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Technical advance
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo, Giuseppe Novelli
BMC Medical Genetics 2004, 5:8 (14April2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Glutathione S-Transferase  1 variation does not influence age at onset of Huntington's disease
Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, J rgen Andrich, J rg T Epplen
BMC Medical Genetics 2004, 5:7 (24March2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant
Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge, Edith Sim
BMC Medical Genetics 2004, 5:6 (17March2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Molecular epidemiology of DFNB1 deafness in France
Anne-Franoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valrie Faug re, Carine Templin, Dorothe Leprevost, Franoise Artires, Genevive Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres
BMC Medical Genetics 2004, 5:5 (6March2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
Myrna Medlej-Hashim, Valrie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Grard Lefranc, Jacques Loiselet, Andr Mgarban
BMC Medical Genetics 2004, 5:4 (10February2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians
Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco, Giovanna De Benedictis
BMC Medical Genetics 2004, 5:3 (9February2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj, Pa-thai Yenchitsomanus
BMC Medical Genetics 2004, 5:2 (3February2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Case report
A case of familial isolated hemihyperplasia
Heidi A Heilstedt, Carlos A Bacino
BMC Medical Genetics 2004, 5:1 (2February2004)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
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