Works matching IS 14712350 AND DT 2004 AND VI 5

Results: 30

Catechol-O-Methyltransferase (COMT) Val<sup>108/158</sup> Met polymorphism does not modulate executive function in children with ADHD.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-30

By:

Taerk, Evan;
Grizenko, Natalie;
Amor, Leila Ben;
Lageix, Philippe;
Mbekou, Valentin;
Deguzman, Rosherie;
Torkaman-Zehi, Adam;
Stepanian, Marina Ter;
Baron, Chantal;
Joober, Ridha

Publication type:

Article

Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-29

By:

Barton, James C.;
Rivers, Charles A.;
Niyongere, Sandrine;
Bohannon, Sean B.;
Acton, Ronald T.

Publication type:

Article

Men's values-based factors on prostate cancer risk genetic testing: A telephone survey.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 28, doi. 10.1186/1471-2350-5-28

By:

Doukas, David J.;
Yuelin Li

Publication type:

Article

Neural network analysis in pharmacogenetics of mood disorders.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 27, doi. 10.1186/1471-2350-5-27

By:

Serretti, Alessandro;
Smeraldi, Enrico

Publication type:

Article

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 26, doi. 10.1186/1471-2350-5-26

By:

Blaisdell, Carol J.;
Howard, Timothy D.;
Stern, Augustus;
Bamford, Penelope;
Bleecker, Eugene R.;
Stine, O. Colin

Publication type:

Article

HLA haplotypes associated with hemochromatosis mutations in the Spanish population.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 25, doi. 10.1186/1471-2350-5-25

By:

Pacho, Arantza;
Mancebo, Esther;
Del Rey, Manuel J.;
Castro, Maria J.;
Oliver, Desamparados;
García-Berciano, Miguel;
González, Luis;
Morales, Pablo

Publication type:

Article

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-24

By:

Ahmed, Zubair M.;
Li, Xiaoyan Cindy;
Powell, Shontell D.;
Riazuddin, Saima;
Young, Terry-Lynn;
Ramzan, Khushnooda;
Ahmad, Zahoor;
Luscombe, Sandra;
Dhillon, Kiran;
MacLaren, Linda;
Ploplis, Barbara;
Shotland, Lawrence I.;
Ives, Elizabeth;
Riazuddin, Sheikh;
Friedman, Thomas B.;
Morell, Robert J.;
Wilcox, Edward R.

Publication type:

Article

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.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 23, doi. 10.1186/1471-2350-5-23

By:

Scharplatz, M.;
Puhan, M. A.;
Steurer, J.;
Bachmann, L. M.

Publication type:

Article

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 22, doi. 10.1186/1471-2350-5-22

By:

Christophe-Hobertus, Christiane;
Kooy, Frank;
Gecz, Jozef;
Abramowicz, Marc J.;
Holinski-Feder, Elke;
Schwartz, Charles;
Christophe, Daniel

Publication type:

Article

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 21, doi. 10.1186/1471-2350-5-21

By:

Pickard, Ben S.;
Hollox, Edward J.;
Malloy, M. Pat;
Porteous, David J.;
Blackwood, Douglas H. R.;
Armour, John A. L.;
Muir, Walter J.

Publication type:

Article

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 20, doi. 10.1186/1471-2350-5-20

By:

Ibay, Grace;
Doan, Betty;
Reider, Lauren;
Dana, Debra;
Schlifka, Melissa;
Heping Hu;
Holmes, Taura;
O'Neill, Jennifer;
Owens, Robert;
Ciner, Elise;
Bailey-Wilson, Joan E.;
Stambolian, Dwight

Publication type:

Article

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-19

By:

Claustres, Mireille;
Altiéri, Jean-Pierre;
Guittard, Caroline;
Templin, Carine;
Chevalier-Porst, Françoise;
Des Georges, Marie

Publication type:

Article

The impact of population heterogeneity on risk estimation in genetic counseling.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 18, doi. 10.1186/1471-2350-5-18

By:

Wenlei Liu;
Icitovic, Nikolina;
Shaffer, Michele L.;
Chase, Gary A.

Publication type:

Article

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 17, doi. 10.1186/1471-2350-5-17

By:

Gould, Douglas B.;
Jaafar, Mohamad S.;
Addison, Mark K.;
Munier, Francis;
Ritch, Robert;
MacDonald, Ian M.;
Walter, Michael A.

Publication type:

Article

HNPCC: Six new pathogenic mutations.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 16, doi. 10.1186/1471-2350-5-16

By:

Kunstmann, Erdmute;
Vieland, Judith;
Brasch, Frank E.;
Hahn, Stephan A.;
Epplen, Joerg T.;
Schulmann, Karsten;
Schmiegel, Wolff

Publication type:

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.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Stoll, Christian;
Mengsteab, Senait;
Stoll, Doris;
Riediger, Dieter;
Gressner, Axel M.;
Weiskirchen, Ralf

Publication type:

Article

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Quanyi Li;
Athan, Eleni S.;
Wei, Michelle;
Yuan, Eric;
Rice, Samuel L.;
Vonsattel, Jean-Paul;
Mayeux, Richard P.;
Tycko, Benjamin

Publication type:

Article

Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 13, doi. 10.1186/1471-2350-5-13

By:

Byrne, Connie E.;
Fitzgerald, Anthony;
Cannon, Christopher P.;
Fitzgerald, Desmond J.;
Shields, Denis C.

Publication type:

Article

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Hutcheson, Holli B.;
Olson, Lana M.;
Bradford, Yuki;
Folstein, Susan E.;
Santangelo, Susan L.;
Sutcliffe, James S.;
Haines, Jonathan L.

Publication type:

Article

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.

Published in:

2004

By:

Germain, Dominique P.;
Avan, Paul;
Chassaing, Augustin;
Bonfils, Pierre

Publication type:

Correction Notice

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.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Ramanathan, Subhadra;
Woodroffe, Abigail;
Flodman, Pamela L.;
Mays, Lee Z.;
Hanouni, Mona;
Modahl, Charlotte B.;
Steinberg-Epstein, Robin;
Bocian, Maureen E.;
Spence, M. Anne;
Smith, Moyra

Publication type:

Article

PAX6 gene variations associated with aniridia in south India.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 9, doi. 10.1186/1471-2350-5-9

By:

Neethirajan, Guruswamy;
Krishnadas, Subbaiah Ramasamy;
Vijayalakshmi, Perumalsamy;
Shashikant, Shetty;
Sundaresan, Periasamy

Publication type:

Article

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 8, doi. 10.1186/1471-2350-5-8

By:

D'Apice, Maria Rosaria;
Gambardella, Stefano;
Bengala, Mario;
Russo, Silvia;
Nardone, Anna Maria;
Lucidi, Vincenzina;
Sangiuolo, Federica;
Novelli, Giuseppe

Publication type:

Article

Glutathione S-Transferase ℣ 1 variation does not influence age at onset of Huntington's disease.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 7, doi. 10.1186/1471-2350-5-7

By:

Arning, Larissa;
Jagiello, Peter;
Wieczorek, Stefan;
Saft, Carsten;
Andrich, Jürgen;
Epplen, Jörg T.

Publication type:

Article

NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Johnson, Nichola;
Bell, Peter;
Jonovska, Vesna;
Budge, Marc;
Sim, Edith

Publication type:

Article

Molecular epidemiology of DFNB1 deafness in France.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 5, doi. 10.1186/1471-2350-5-5

By:

Roux, Anne-Françoise;
Pallares-Ruiz, Nathalie;
Vielle, Anne;
Faugère, Valérie;
Templin, Carine;
Leprevost, Dorothée;
Artières, Françoise;
Lina, Geneviève;
Molinari, Nicolas;
Blanchet, Patricia;
Mondain, Michel;
Claustres, Mireille

Publication type:

Article

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Medlej-Hashim, Myrna;
Delague, Valérie;
Chouery, Eliane;
Salem, Nabiha;
Rawashdeh, Mohammed;
Lefranc, Gérard;
Loiselet, Jacques;
Mégarbané, André

Publication type:

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.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 3, doi. 10.1186/1471-2350-5-3

By:

Garasto, Sabrina;
Berardelli, Maurizio;
DeRango, Francesco;
Mari, Vincenzo;
Feraco, Emidio;
De Benedictis, Giovanna

Publication type:

Article

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Wanna Thongnoppakhun;
Chanin Limwongse;
Kriengsak Vareesangthip;
Chintana Sirinavin;
Duangkamon Bunditworapoom;
Nanyawan Rungroj;
Pa-thai Yenchitsomanus

Publication type:

Article

A case of familial isolated hemihyperplasia.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-1

By:

Heilstedt, Heidi A.;
Bacino, Carlos A.

Publication type:

Article