Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 5

Results: 17

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 407, doi. 10.1038/sj.ejhg.5201138

By:

Aller, Elena;
Nájera, Carmen;
Millán, José M.;
Oltra, Juan S.;
Pérez-Garrigues, Herminio;
Vilela, Concepción;
Navea, Amparo;
Beneyto, Magdalena

Publication type:

Article

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 343, doi. 10.1038/sj.ejhg.5201158

By:

Kotzot, Dieter

Publication type:

Article

Association between COL1A1 gene polymorphisms and bone size in Caucasians.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 383, doi. 10.1038/sj.ejhg.5201152

By:

Ji-Rong Long, Thierry;
Liu, Peng-Yuan;
Yan Lu;
Dong-Hai Xiong, Peng-Yuan;
Lan-Juan Zhao, Peng-Yuan;
Yuan-Yuan Zhang;
Leo Elze, Peng-Yuan;
Recker, Robert R.;
Hong-Wen Deng

Publication type:

Article

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 415, doi. 10.1038/sj.ejhg.5201155

By:

Le Meur, Nathalie;
Martin, Cosette;
Saugier-Veber, Pascale;
Joly, Géraldine;
Lemoine, Françose;
Moirot, Hélène;
Rossi, Annick;
Bachy, Bruno;
Cabot, Annick;
Joly, Pascal;
Frébourg, Thierry

Publication type:

Article

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 355, doi. 10.1038/sj.ejhg.5201156

By:

Doron M. Behar;
Hammer, Michael F.;
Garrigan, Daniel;
Villems, Richard;
Bonne-Tamir, Batsheva;
Richards, Martin;
Gurwitz, David;
Rosengarten, Dror;
Kaplan, Matthew;
Pergola, Sergio Della;
Quintana-Murci, Lluis;
Skorecki, Karl

Publication type:

Article

Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 365, doi. 10.1038/sj.ejhg.5201157

By:

Plasilova, M.;
Russell, A. M.;
Wanner, A.;
Wolf, A.;
Dobbie, Z.;
Müller, H. J.;
Heinimann, K.

Publication type:

Article

Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 377, doi. 10.1038/sj.ejhg.5201149

By:

Mendlewicz, Julien;
Massat, Isabelle;
Souery, Daniel;
Del-Favero, Jurgen;
Oruč, Lilijana;
Nöthen, Markus M.;
Blackwood, Douglas;
Muir, Walter;
Battersby, Sharon;
Lerer, Beny;
Segman, Ronen H.;
Kaneva, Radka;
Serretti, Alessandro;
Lilli, Roberta;
Lorenzi, Christian;
Jacovljevič, Miro;
Ivezič, Sladana;
Rietschel, Marcella;
Milanova, Vihra

Publication type:

Article

Ciliary neurotrophic factor (CNTF) genotype and body composition.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 372, doi. 10.1038/sj.ejhg.5201159

By:

Jacob, Ashok C.;
Zmuda, Joseph M.;
Cauley, Jane A.;
Metter, E. Jeffrey;
Hurley, Ben F.;
Ferrell, Robert E.;
Roth, Stephen M.

Publication type:

Article

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 389, doi. 10.1038/sj.ejhg.5201161

By:

Croes, Esther A.;
Alizadeh, Behrooz Z.;
Bertoli-Avella, Aida M.;
Rademaker, Tessa;
Vergeer-Drop, Jeannette;
Dermaut, Bart;
Houwing-Duistermaat, Jeanine J.;
Wientjens, Dorothee P. W. M.;
Hofman, Albert;
Van Broeckhoven, Christine;
van Duijn, Cornelia M.

Publication type:

Article

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 347, doi. 10.1038/sj.ejhg.5201162

By:

Boucher, Catherine;
Sandford, Richard

Publication type:

Article

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 400, doi. 10.1038/sj.ejhg.5201163

By:

Wuyts, Wim;
Waeber, Gerard;
Meinecke, Peter;
Schüler, Herdit;
Goecke, Timm O.;
Hul, Wim Van;
Bartsch, Oliver

Publication type:

Article

Detection of genotyping errors by Hardy-Weinberg equilibrium testing.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 395, doi. 10.1038/sj.ejhg.5201164

By:

Hosking, Louise;
Lumsden, Sheena;
Lewis, Karen;
Yeo, Astrid;
McCarthy, Linda;
Bansal, Aruna;
Riley, John;
Purvis, Ian;
Xu, Chun-Fang

Publication type:

Article

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168

By:

Nazarenko, Sergey;
Sazhenova, Elena;
Baumer, Alessandra;
Schinzel, Albert

Publication type:

Article

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 419, doi. 10.1038/sj.ejhg.5201169

By:

Pichon, Bruno;
Vankerckhove, Sophie;
Bourrouillou, Georges;
Duprez, Laurence;
Abramowicz, Marc J.

Publication type:

Article

Hereditary hemochromatosis: Is the gene race over?

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 341, doi. 10.1038/sj.ejhg.5201176

By:

Gasparini, Paolo;
Camaschella, Clara

Publication type:

Article

Professor Robin Michael Winter: 1950-2004. An appreciation.

Published in:

2004

By:

Donnai, Dian

Publication type:

Obituary

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Published in:

2004

By:

Tsukamoto, Koji;
Suzuki, Hiroaki;
Harada, Daisuke;
Namba, Atsushi;
Abe, Satoko;
Usami, Shin-ichi

Publication type:

Correction Notice