Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 9

Results: 18

Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1000, doi. 10.1038/sj.ejhg.5201447

By:

Pirskanen, Mia;
Hiltunen, Mikko;
Mannermaa, Arto;
Helisalmi, Seppo;
Lehtovirta, Maarit;
Hänninen, Tuomo;
Soininen, Hilkka

Publication type:

Article

Potential harms, anonymization, and the right to withdraw consent to biobank research.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1071, doi. 10.1038/sj.ejhg.5201458

By:

Eriksson, Stefan;
Helgesson, Gert

Publication type:

Article

Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1094, doi. 10.1038/sj.ejhg.5201460

By:

Byung-Hoon Jeong;
Nam-Ho Kim;
Eun-Kyoung Choi;
Chaeyoung Lee;
Young-Han Song;
Jae-Il Kim;
Carp, Richard I;
Yong-Sun Kim

Publication type:

Article

A new edition of a must have handbook for genetic counsellors.

Published in:

2005

By:

Duba, Hans-Christoph

Publication type:

Book Review

Partners of mutation-carriers for Huntington's disease: forgotten persons?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1077, doi. 10.1038/sj.ejhg.5201462

By:

Decruyenaere, Marleen;
Evers-Kiebooms, Gerry;
Boogaerts, Andrea;
Demyttenaere, Koen;
Dom, René;
Fryns, Jean-Pierre

Publication type:

Article

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1013, doi. 10.1038/sj.ejhg.5201442

By:

Flori, Elisabeth;
Girodon, Emmanuelle;
Samama, Brigitte;
Becmeur, François;
Viville, Brigitte;
Girard-Lemaire, Françoise;
Doray, Bérénice;
Schluth, Caroline;
Marcellin, Luc;
Boehm, Nelly;
Goossens, Michel;
Pingault, Véronique

Publication type:

Article

Communication of pharmacogenetic research results to HIV-infected treated patients: standpoints of professionals and patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1055, doi. 10.1038/sj.ejhg.5201450

By:

Moutel, Grégoire;
Duchange, Nathalie;
Raffi, François;
Sharara, Lama I.;
Théodorou, Ioannis;
Noël, Violaine;
de Montgolfier, Sandrine;
Callies, Ingrid;
Bricaire, François;
Hervé, Christian;
Leport, Catherine

Publication type:

Article

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448

By:

Geneviève, David;
Sanlaville, Damien;
Faivre, Laurence;
Kottler, Marie-Laure;
Jambou, Marguerite;
Gosset, Philippe;
Boustani-Samara, Dinane;
Pinto, Graziella;
Ozilou, Catherine;
Abeguilé, Geneviève;
Munnich, Arnold;
Romana, Serge;
Raoul, Odile;
Cormier-Daire, Valérie;
Vekemans, Michel

Publication type:

Article

Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1047, doi. 10.1038/sj.ejhg.5201449

By:

Gordon, Erynn S;
Gordish-Dressman, Heather A;
Devaney, Joseph;
Clarkson, Priscilla;
Thompson, Paul;
Gordon, Paul;
Pescatello, Linda S;
Hubal, Monica J;
Pistilli, Emidio E;
Gianetti, Gary;
Kelsey, Bethany;
Hoffman, Eric P

Publication type:

Article

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1025, doi. 10.1038/sj.ejhg.5201463

By:

Cooper, Wendy N;
Luharia, Anita;
Evans, Gail A;
Raza, Hussain;
Haire, Antonita C;
Grundy, Richard;
Bowdin, Sarah C;
Riccio, Andrea;
Sebastio, Gianfranco;
Bliek, Jet;
Schofield, Paul N;
Reik, Wolf;
Macdonald, Fiona;
Maher, Eamonn R

Publication type:

Article

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1040, doi. 10.1038/sj.ejhg.5201452

By:

Ars, Elisabet;
Tazón-Vega, Bárbara;
Ruiz, Patricia;
Nogués, Carme;
Arnedo, Núria;
Rajmil, Osvaldo;
Torra, Roser

Publication type:

Article

Combining the case–control methodology with the small size transmission/disequilibrium test for multiallelic markers.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1007, doi. 10.1038/sj.ejhg.5201453

By:

Wei Guo;
Wing K Fung

Publication type:

Article

Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1063, doi. 10.1038/sj.ejhg.5201454

By:

Tempest, Vanessa;
Iredale, Rachel;
Gray, Jonathon;
France, Liz;
Anstey, Sally;
Steward, John

Publication type:

Article

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1086, doi. 10.1038/sj.ejhg.5201455

By:

Klein, Christine;
Djarmati, Ana;
Hedrich, Katja;
Schäfer, Nora;
Scaglione, Cesa;
Marchese, Roberta;
Kock, Norman;
Schüle, Birgitt;
Hiller, Anja;
Lohnau, Thora;
Winkler, Susen;
Wiegers, Karin;
Hering, Robert;
Bauer, Peter;
Riess, Olaf;
Abbruzzese, Giovanni;
Martinelli, Paolo;
Pramstaller, Peter P.

Publication type:

Article

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456

By:

Koolen, David A.;
Reardon, William;
Rosser, Elisabeth M.;
Lacombe, Didier;
Hurst, Jane A.;
Law, Caroline J.;
Bongers, Ernie M. H. F.;
van Ravenswaaij-Arts, Conny M.;
Leisink, Martijn A. R;
van Kessel, Ad Geurts;
Veltman, Joris A.;
de Vries, Bert B. A

Publication type:

Article

Ultraconserved regions in multiple sclerosis.

Published in:

2005

By:

Ban, Maria;
Maranian, Mel;
Yeo, Tai Wai;
Gray, Julia;
Compston, Alastair;
Sawcer, Stephen

Publication type:

Letter

Gene Expression: Growing up together may help genes go their separate ways.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 993, doi. 10.1038/sj.ejhg.5201464

By:

Parelho, Vania;
Merkenschlager, Matthias

Publication type:

Article

Research Networks: BioSapiens: a European network for integrated genome annotation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 9, p. 994, doi. 10.1038/sj.ejhg.5201470

By:

Valencia, A.

Publication type:

Article