Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 6

Results: 14

Haplotype associations define target regions for susceptibility loci in systemic lupus erythematosus.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 489, doi. 10.1038/sj.ejhg.5201125

By:

Koskenmies, Sari;
Widén, Elisabeth;
Onkamo, Päivi;
Sevón, Petteri;
Julkunen, Heikki;
Kere, Juha

Publication type:

Article

Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transition.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 433, doi. 10.1038/sj.ejhg.5201136

By:

Hyunho Kim;
Yoonhee Bae;
Woocho Jeong;
Ahn, Curie;
Seongman Kang

Publication type:

Article

Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 455, doi. 10.1038/sj.ejhg.5201150

By:

Giardino, Daniela;
Finelli, Palma;
Amico, Francesco Paolo;
Gottardi, Giulietta;
Civa, Rosa;
Corona, Giuseppina;
Nocera, Gianfranco;
Larizza, Lidia

Publication type:

Article

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 495, doi. 10.1038/sj.ejhg.5201160

By:

Comas, David;
Plaza, Stéphanie;
Wells, R. Spencer;
Yuldaseva, Nadira;
Lao, Oscar;
Calafell, Francesc;
Bertranpetit, Jaume

Publication type:

Article

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Published in:

2004

By:

Sjarif, Damayanti R.;
Hellerud, Christina;
van Amstel, Johannes K. Ploos;
Kleijer, Willem J.;
Sperl, Wolfgang;
Lacombe, Didier;
Sass, Jõrn Oliver;
Beemer, Frits A.;
Duran, Marinus;
Poll-The, Bwee Tien

Publication type:

Angiotensin I-converting enzyme polymorphisms, ACE level and blood pressure among Nigerians, Jamaicans and African-Americans.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 460, doi. 10.1038/sj.ejhg.5201166

By:

Bouzekri, Nourdine;
Xiaofeng Zhu;
Yanming Jiang;
McKenzie, Colin A.;
Luke, Amy;
Forrester, Terrence;
Adeyemo, Adebowale;
Donghui Kan;
Farrall, Martin;
Anderson, Simon;
Cooper, Richard S.;
Ward, Ryk

Publication type:

Article

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 441, doi. 10.1038/sj.ejhg.5201167

By:

Verbeek, Dineke S.;
Piersma, Systse J.;
Hennekam, Eric FAM;
Ippel, Elly F.;
Pearson, Peter L.;
Sinke, Richard J.

Publication type:

Article

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 505, doi. 10.1038/sj.ejhg.5201181

By:

Guanshan Zhu;
Bartsch, Oliver;
Skrypnyk, Cristina;
Rotondo, Alessandro;
Akhtar, Longina A.;
Harris, Claudia;
Virkkunen, Matti;
Cassano, Giovanni;
Goldman, David

Publication type:

Article

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 447, doi. 10.1038/sj.ejhg.5201175

By:

Schoumans, Jacqueline;
Nielsen, Kate;
Jeppesen, Iben;
Anderlid, Britt-Marie;
Blennow, Elisabeth;
Brøndum-Nielsen, Karen;
Nordenskjöld, Magnus

Publication type:

Article

Haplotype diversity and SNP frequency dependence in the description of genetic variation.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 469, doi. 10.1038/sj.ejhg.5201179

By:

Stumpf, Michael P. H.

Publication type:

Article

Candidate gene approach in association studies: would the factor V Leiden mutation have been found by this approach?

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 478, doi. 10.1038/sj.ejhg.5201183

By:

Vlieg, Astrid van Hylckama;
Sandkuijl, Lodewijk A.;
Rosendaal, Frits R.;
Bertina, Rogier M.;
Vos, Hans L.

Publication type:

Article

A novel point mutation in the mitochondrial tRNA<sup>Trp</sup> gene produces a neurogastrointestinal syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 509, doi. 10.1038/sj.ejhg.5201185

By:

Maniura-Weber, Katharina;
Taylor, Robert W.;
Johnson, Margaret A.;
Chrzanowska-Lightowlers, Zofia;
Morris, Andrew A. M.;
Charlton, Charles P. J.;
Turnbull, Douglas M.;
Bindoff, Laurence A.

Publication type:

Article

Tools for molecular risk-stratification for clinical purposes: CLL as a prototype.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 423, doi. 10.1038/sj.ejhg.5201220

By:

de Jong, Daphne;
van't Veer, Laura J.

Publication type:

Article

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177

By:

Viollet, Louis;
Zarhrate, Mohammed;
Maystadt, Isabelle;
Estournet-Mathiaut, Brigitte;
Barois, Annie;
Desguerre, Isabelle;
Mayer, Michèle;
Chabrol, Brigitte;
LeHeup, Bruno;
Cusin, Veronica;
de Villemeur, Thierry Billette;
Bonneau, Dominique;
Saugier-Veber, Pascale;
Villepin, Anne Touzery-de;
Delaubier, Anne;
Kaplan, Jocelyne;
Jeanpierre, Marc;
Feingold, Joshué;
Munnich, Arnold

Publication type:

Article