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

Results: 18

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1024, doi. 10.1038/sj.ejhg.5201258

By:

Klevering, B. Jeroen;
Yzer, Suzanne;
Rohrschneider, Klaus;
Zonneveld, Marijke;
Allikmets, Rando;
van den Born, L. Ingeborgh;
Maugeri, Alessandra;
Hoyng, Carel B.;
Cremers, Frans P. M.

Publication type:

Article

Corneal dystrophies and degenerations: a molecular genetics approach.

Published in:

2004

By:

Hergersberg, M.

Publication type:

Book Review

Model-fitting and linkage analysis of sodium-lithium countertransport.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1055, doi. 10.1038/sj.ejhg.5201262

By:

Hasstedt, Sandra J.;
Camp, Nicola J.;
Hopkins, Paul N.;
Coon, Hilary;
McKinney, Jason T.;
Cawthon, Richard M.;
Hunt, Steven C.

Publication type:

Article

An excess of chromosome 1 breakpoints in male infertility.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 993, doi. 10.1038/sj.ejhg.5201263

By:

Bache, Iben;
Assche, Elvire Van;
Cingoz, Sultan;
Bugge, Merete;
Tümer, Zeynep;
Hjorth, Mads;
Lundsteen, Claes;
Lespinasse, James;
Winther, Kirsten;
Niebuhr, Anita;
Kalscheuer, Vera;
Liebaers, Inge;
Bonduelle, Maryse;
Tournaye, Herman;
Ayuso, Carmen;
Barbi, Gotthold;
Blennow, Elisabeth;
Bourrouillou, Georges;
Brondum-Nielsen, Karen;
Bruun-Petersen, Gert

Publication type:

Article

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 987, doi. 10.1038/sj.ejhg.5201264

By:

Varela, Monica Castro;
Kok, Fernando;
Otto, Paulo Alberto;
Koiffmann, Celia Priszkulnik

Publication type:

Article

CD40 ligand gene and Kawasaki disease.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1062, doi. 10.1038/sj.ejhg.5201266

By:

Onouchi, Yoshihiro;
Onoue, Sakura;
Tamari, Mayumi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Yashiro, Mayumi;
Nakamura, Yoshikazu;
Yanagawa, Hiroshi;
Kishi, Fumio;
Ouchi, Kazunobu;
Terai, Masaru;
Hamamoto, Kunihiro;
Kudo, Fumiyo;
Aotsuka, Hiroyuki;
Sato, Yoshitake;
Nariai, Akiyoshi;
Kaburagi, Yoichi;
Miura, Masaru;
Saji, Tsutomu;
Kawasaki, Tomisaku

Publication type:

Article

Molecular evidence for absence of Y-linkage of the Hairy Ears trait.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1077, doi. 10.1038/sj.ejhg.5201271

By:

Lee, Andrew C.;
Kamalam, Angamuthu;
Adams, Susan M.;
Jobling, Mark A.

Publication type:

Article

Detect and adjust for population stratification in population-based association study using genomic control markers: an application of Affymetrix Genechip<sup>®</sup> Human Mapping 10K array.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1001, doi. 10.1038/sj.ejhg.5201273

By:

Ke Hao;
Cheng Li;
Rosenow, Carsten;
Wong, Wing H.

Publication type:

Article

Three consecutive triploidy pregnancies in a woman: genetic predisposition?

Published in:

2004

By:

Huang, Bing;
Prensky, Larry;
Thangavelu, Maya;
Main, Denise;
Wang, Shengbiao

Publication type:

Letter

TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1041, doi. 10.1038/sj.ejhg.5201277

By:

Morange, P. E.;
Tiret, L.;
Saut, N.;
Luc, G;
Arveiler, D.;
Ferrieres, J.;
Amouyel, P.;
Evans, A.;
Ducimetiere, P.;
Cambien, F.;
Juhan-Vague, I.

Publication type:

Article

Association of the mitochondrial DNA haplogroup J with longevity is population specific.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1080, doi. 10.1038/sj.ejhg.5201278

By:

Dato, Serena;
Passarino, Giuseppe;
Rose, Giuseppina;
Altomare, Katia;
Bellizzi, Dina;
Mari, Vincenzo;
Feraco, Emidio;
Franceschi, Claudio;
de Benedictis, Giovanna

Publication type:

Article

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280

By:

Carella, Massimo;
d'Adamo, Adamo Pio;
Grootenboer-Mignot, Sabine;
Vantyghem, Marie C.;
Esposito, Laura;
D'Eustacchio, Angela;
Ficarella, Romina;
Stewart, Gordon W;
Gasparini, Paolo;
Delaunay, Jean;
Iolascon, Achille

Publication type:

Article

The common PPAR-?2 Pro12Ala variant is associated with greater insulin sensitivity.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1050, doi. 10.1038/sj.ejhg.5201283

By:

Buzzetti, Raffaella;
Petrone, Antonio;
Ribaudo, Maria Cristina;
Alemanno, Irene;
Zavarella, Sara;
Mein, Charles A.;
Maiani, Francesca;
Tiberti, Claudio;
Baroni, Marco Giorgio;
Vecci, Elio;
Arca, Marcello;
Leonetti, Frida;
di Mario, Umberto

Publication type:

Article

Huntington's disease, third edition: Oxford monographs on medical genetics.

Published in:

2004

By:

Kohan, Zully Gelman

Publication type:

Book Review

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1015, doi. 10.1038/sj.ejhg.5201288

By:

Ogino, Shuji;
Wilson, Robert B;
Gold, Bert

Publication type:

Article

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1033, doi. 10.1038/sj.ejhg.5201289

By:

Starling, Alessandra;
Kok, Fernando;
Passos-Bueno, Maria Rita;
Vainzof, Mariz;
Zatz, Mayana

Publication type:

Article

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290

By:

Sarkozy, Anna;
Obregon, Maria Gabriela;
Conti, Emanuela;
Esposito, Giorgia;
Mingarelli, Rita;
Pizzuti, Antonio;
Dallapiccola, Bruno

Publication type:

Article

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1007, doi. 10.1038/sj.ejhg.5201291

By:

Moutou, Céline;
Gardes, Nathalie;
Viville, Stéphane

Publication type:

Article