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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 6 |
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Research article
  
The host response to the probiotic Escherichia coli strain Nissle 1917: Specific up-regulation of the proinflammatory chemokine MCP-1
Sya N Ukena, Astrid M Westendorf, Wiebke Hansen, Manfred Rohde, Robert Geffers, Sina Coldewey, Sebastian Suerbaum, Jan Buer, Florian Gunzer
BMC Medical Genetics 2005, 6:43 (13December2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
Jennifer L Bento, Donald W Bowden, Josyf C Mychaleckyj, Shohei Hirakawa, Stephen S Rich, Barry I Freedman, Fernando Segade
BMC Medical Genetics 2005, 6:42 (7December2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians
Ciara Dolan, Denis C Shields, Alice Stanton, Eoin O'Brien, Deborah M Lambert, John K O'Brien, Eileen P Treacy
BMC Medical Genetics 2005, 6:41 (2December2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study
Mirjam I Bakker, Linda May, Mochammad Hatta, Agnes Kwenang, Paul R Klatser, Linda Oskam, Jeanine J Houwing-Duistermaat
BMC Medical Genetics 2005, 6:40 (24November2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Database
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
Jean-Pierre Bayley, Peter Devilee, Peter EM Taschner
BMC Medical Genetics 2005, 6:39 (16November2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Aging syndrome genes and premature coronary artery disease
Adrian F Low, Christopher J O'Donnell, Sekar Kathiresan, Brendan Everett, Claudia U Chae, Stanley Y Shaw, Patrick T Ellinor, Calum A MacRae
BMC Medical Genetics 2005, 6:38 (31October2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans
Mohammad A Karim, Xiaoqin Wang, Terri C Hale, Steven C Elbein
BMC Medical Genetics 2005, 6:37 (17October2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Technical advance
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes
Claudio Graziano, Massimo Giorgi, Cecilia Malentacchi, Pier Luigi Mattiuz, Berardino Porfirio
BMC Medical Genetics 2005, 6:36 (4October2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD)
Larissa Arning, Peter H Kraus, Carsten Saft, J rgen Andrich, J rg T Epplen
BMC Medical Genetics 2005, 6:35 (3October2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease
Sabine Hoffjan, Susanne Stemmler, Qumar Parwez, Elisabeth Petrasch-Parwez, Umut Arinir, Gernot Rohde, Karin Reinitz-Rademacher, Gerhard Schultze-Werninghaus, Albrecht Bufe, Jrg T Epplen
BMC Medical Genetics 2005, 6:34 (28September2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Cell cycle and centromere FISH studies in premature centromere division
Alfredo Corona-Rivera, Fabio Salamanca-Gomez, Lucina Bobadilla-Morales, Jorge R Corona-Rivera, Cesar Palomino-Cueva, Teresa A Garcia-Cobian, Enrique Corona-Rivera
BMC Medical Genetics 2005, 6:33 (20September2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility
Robert Curtain, James Sundholm, Rod Lea, Mick Ovcaric, John MacMillan, Lyn Griffiths
BMC Medical Genetics 2005, 6:32 (14September2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [1 comment]
Research article
No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study
Keeley-Joanne Brookes, Xiaohui Xu, Chih-Ken Chen, Yu-Shu Huang, Yu-Yu Wu, Philip Asherson
BMC Medical Genetics 2005, 6:31 (5September2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss
Hsiao-Yuan Tang, Anping Xia, John S Oghalai, Fred A Pereira, Raye L Alford
BMC Medical Genetics 2005, 6:30 (8August2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Association study of functional genetic variants of innate immunity related genes in celiac disease
B Rueda, A Zhernakova, MA L pez-Nevot, J Mart n, BPC Koeleman
BMC Medical Genetics 2005, 6:29 (3August2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Case report
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report
Maulik Shah, Brian Bogucki, Melissa Mavers, Daphne E deMello, Alan Knutsen
BMC Medical Genetics 2005, 6:28 (25July2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
Christine Zhlke, Andreas Dalski, Eberhard Schwinger, Ulrich Finckh
BMC Medical Genetics 2005, 6:27 (1July2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Case report
Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes
Jean J Latimer, Wendy S Rubinstein, Jennifer M Johnson, Amal Kanbour-Shakir, Victor G Vogel, Stephen G Grant
BMC Medical Genetics 2005, 6:26 (14June2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Case report
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
Chun-An Chen, Nelson LS Tang, Yin-Hsiu Chien, Wei-Min Zhang, Jou-Kou Wang, Wuh-Liang Hwu
BMC Medical Genetics 2005, 6:25 (9June2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
Virginie Scotet, G rald Le Gac, Marie-Christine Mrour, Anne-Yvonne Mercier, Brigitte Chanu, Chandran Ka, Catherine Mura, Jean-Baptiste Nousbaum, Claude Frec
BMC Medical Genetics 2005, 6:24 (1June2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population
Eckart Schnakenberg, Andrea Mehles, Gunnar Cario, Klaus Rehe, Kathrin Seidemann, Brigitte Schlegelberger, Holger A Elsner, Karl H Welte, Martin Schrappe, Martin Stanulla
BMC Medical Genetics 2005, 6:23 (27May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
SMN1 dosage analysis in spinal muscular atrophy from India
Akanchha Kesari, Hanna Rennert, Debra GB Leonard, Balraj Mittal
BMC Medical Genetics 2005, 6:22 (23May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
Marie Sogaard, Zeynep Tmer, Helle Hjalgrim, Johanne Hahnemann, Birgitte Friis, Paal Ledaal, Vibeke Faurholt Pedersen, Peter Baekgaard, Niels Tommerup, Sultan Cingz, Morten Duno, Karen Brondum-Nielsen
BMC Medical Genetics 2005, 6:21 (17May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schn, Heinz-Juergen Rdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun Rappold
BMC Medical Genetics 2005, 6:20 (12May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Technical advance
CYP3A4 and CYP3A5 genotyping by Pyrosequencing
Adam A Garsa, Howard L McLeod, Sharon Marsh
BMC Medical Genetics 2005, 6:19 (9May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
Birgitt Schle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner, Uta Francke
BMC Medical Genetics 2005, 6:18 (6May2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Study protocol
The Familial Intracranial Aneurysm (FIA) study protocol
Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston III, Nathan Pankratz, Irene Meissner, Robert D Brown Jr
BMC Medical Genetics 2005, 6:17 (26April2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andre MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz
BMC Medical Genetics 2005, 6:16 (25April2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Technical advance
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen, Ole Faergeman
BMC Medical Genetics 2005, 6:15 (20April2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan
Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin, H Sunny Sun
BMC Medical Genetics 2005, 6:14 (31March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines, Peter Hedera
BMC Medical Genetics 2005, 6:13 (30March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
First molecular screening of deafness in the Altai Republic population
Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres, Anne-Fran oise Roux
BMC Medical Genetics 2005, 6:12 (24March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population
Maya Ghoussaini, David Meyre, Stphane Lobbens, Guillaume Charpentier, Karine Clment, Marie-Aline Charles, Ma t Tauber, Jacques Weill, Philippe Froguel
BMC Medical Genetics 2005, 6:11 (22March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene
Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras, Susan Galandiuk
BMC Medical Genetics 2005, 6:10 (9March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Association between a variation in the phosphodiesterase 4D gene and bone mineral density
Richard H Reneland, Steven Mah, Stefan Kammerer, Carolyn R Hoyal, George Marnellos, Scott G Wilson, Philip N Sambrook, Tim D Spector, Matthew R Nelson, Andreas Braun
BMC Medical Genetics 2005, 6:9 (7March2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
SNP genotyping to screen for a common deletion in CHARGE Syndrome
Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen, John W Belmont
BMC Medical Genetics 2005, 6:8 (14February2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Debate
Theories of schizophrenia: a genetic-inflammatory-vascular synthesis
Daniel R Hanson, Irving I Gottesman
BMC Medical Genetics 2005, 6:7 (11February2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
Faina M Zakharova, Dorte Damgaard, Michail Y Mandelshtam, Valery I Golubkov, Peter H Nissen, Gitte G Nilsen, Anette Stenderup, Boris M Lipovetsky, Vladimir O Konstantinov, Alexander D Denisenko, Vadim B Vasilyev, Ole Faergeman
BMC Medical Genetics 2005, 6:6 (8February2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Case report
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
Joaquim Calado, Augusta Gaspar, Carla Clemente, Jos Rueff
BMC Medical Genetics 2005, 6:5 (27January2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild, Timo P Hiltunen
BMC Medical Genetics 2005, 6:4 (20January2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Kavita S Reddy
BMC Medical Genetics 2005, 6:3 (18January2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Technical advance
Neural progenitor cells from an adult patient with fragile X syndrome
Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman, Paul J Hagerman
BMC Medical Genetics 2005, 6:2 (14January2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [F1000 Biology]
Research article
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines, James S Sutcliffe
BMC Medical Genetics 2005, 6:1 (12January2005)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
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