Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 5

Results: 12

Intercellular adhesion molecule-1 and childhood asthma.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 476, doi. 10.1007/s00439-005-1319-7

By:

Yu-Fen Li;
Yo-Hsuang Tsao;
Gauderman, W.;
Conti, David;
Avol, Edward;
Dubeau, Louis;
Gilliland, Frank

Publication type:

Article

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 452, doi. 10.1007/s00439-005-1309-9

By:

Forshew, Tim;
Johnson, Colin A.;
Khaliq, Shagufta;
Pasha, Shanaz;
Willis, Catherine;
Abbasi, Rashida;
Tee, Louise;
Smith, Ursula;
Trembath, Richard C.;
Mehdi, Syed Qasim;
Moore, Anthony T.;
Maher, Eamonn R.

Publication type:

Article

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 428, doi. 10.1007/s00439-005-1333-9

By:

Kayser, Manfred;
Lao, Oscar;
Anslinger, Katja;
Augustin, Christa;
Bargel, Grazyna;
Edelmann, Jeanett;
Elias, Sahar;
Heinrich, Marielle;
Henke, Jürgen;
Henke, Lotte;
Hohoff, Carsten;
Illing, Anett;
Jonkisz, Anna;
Kuzniar, Piotr;
Lebioda, Arleta;
Lessig, Rüdiger;
Lewicki, Slawomir;
Maciejewska, Agnieszka;
Monies, Dorota Marta;
Pawłowski, Ryszard

Publication type:

Article

Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 494, doi. 10.1007/s00439-005-1338-4

By:

Gagnon, France;
Jarvik, Gail P.;
Badzioch, Michael D.;
Motulsky, Arno G.;
Brunzell, John D.;
Wijsman, Ellen M.

Publication type:

Article

Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 444, doi. 10.1007/s00439-005-1340-x

By:

Coon, Hilary;
Yuanpei Xin;
Hopkins, Paul N.;
Cawthon, Richard M.;
Hasstedt, Sandra J.;
Hunt, Steven C.

Publication type:

Article

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 460, doi. 10.1007/s00439-005-1318-8

By:

Lucarini, Laura;
Giusti, Betti;
Rui-Zhu Zhang;
Te-Cheng Pan;
Jimenez-Mallebrera, Cecilia;
Mercuri, Eugenio;
Muntoni, Francesco;
Pepe, Guglielmina;
Mon-Li Chu

Publication type:

Article

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 467, doi. 10.1007/s00439-005-1307-y

By:

Ka, Chandran;
Le Gac, Gérald;
Dupradeau, Francois-Yves;
Rochette, Jacques;
Férec, Claude

Publication type:

Article

Silvia Garagna (ed) Mouse genetics after the mouse genome. Karger, ISBN 3-805-57783-4, hardcover.

Published in:

2005

By:

Brown, Steve D. M.

Publication type:

Book Review

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 411, doi. 10.1007/s00439-005-1321-0

By:

Jian-Min Chen;
Stenson, Peter;
Cooper, David;
Férec, Claude

Publication type:

Article

Yury Verlinsky and Anver Kuliev (eds) Atlas of preimplantation genetic diagnosis, 2nd edition. Taylor & Francis, ISBN 1-842-14245-3, hardcover.

Published in:

2005

By:

Flinter, Frances

Publication type:

Book Review

Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback.

Published in:

2005

By:

Estivill, Xavier

Publication type:

Book Review

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 485, doi. 10.1007/s00439-005-1331-y

By:

Bartsch, Oliver;
Schmidt, Stefanie;
Richter, Marion;
Morlot, Susanne;
Seemanová, Eva;
Wiebe, Glenis;
Rasi, Sasan

Publication type:

Article