Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 6

Results: 15

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 664, doi. 10.1038/sj.ejhg.5201817

By:

Köhn, Linda;
Kadzhaev, Konstantin;
Burstedt, Marie S I;
Haraldsson, Susann;
Hallberg, Bengt;
Sandgren, Ola;
Golovleva, Irina

Publication type:

Article

The use of grid computing to drive data-intensive genetic research.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 694, doi. 10.1038/sj.ejhg.5201815

By:

Andrade, Jorge;
Andersen, Malin;
Sillén, Anna;
Graff, Caroline;
Odeberg, Jacob

Publication type:

Article

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 628, doi. 10.1038/sj.ejhg.5201799

By:

Renault, Nisa K.;
Dyack, Sarah;
Dobson, Melanie J.;
Costa, Teresa;
Lam, Wan L.;
Greer, Wenda L.

Publication type:

Article

TNF Polymorphism and Cardiovascular Disease: TNF gene polymorphism and quantitative traits related to cardiovascular disease: getting to the heart of the matter.

Published in:

2007

By:

Mellick, George D.

Publication type:

Editorial

Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 646, doi. 10.1038/sj.ejhg.5201801

By:

Rahib, Lola;
MacLennan, Nicole K.;
Horvath, Steve;
Liao, James C.;
Dipple, Katrina M.

Publication type:

Article

Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA method.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 703, doi. 10.1038/sj.ejhg.5201818

By:

Hermanowski, Jane;
Bouzigon, Emmanuelle;
Forabosco, Paola;
Ng, Mandy Y.;
Fisher, Sheila A.;
Lewis, Cathryn M.

Publication type:

Article

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 658, doi. 10.1038/sj.ejhg.5201819

By:

Torres-Juan, Laura;
Rosell, Jordi;
Morla, Montse;
Vidal-Pou, Catalina;
García-Algas, Fernando;
de la Fuente, Maria-Angeles;
Juan, Miguel;
Tubau, Albert;
Bachiller, Daniel;
Bernues, Marta;
Perez-Granero, Angeles;
Govea, Nancy;
Busquets, Xavier;
Heine-Suñer, Damian

Publication type:

Article

Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 679, doi. 10.1038/sj.ejhg.5201802

By:

Barber, Thomas M.;
Bennett, Amanda J.;
Gloyn, Anna L.;
Groves, Christopher J.;
Sovio, Ulla;
Ruokonen, Aimo;
Martikainen, Hannu;
Pouta, Anneli;
Taponen, Saara;
Weedon, Michael N.;
Hartikainen, Anna-Liisa;
Wass, John A. H.;
Järvelin, Marjo-Riitta;
Zeggini, Eleftheria;
Franks, Stephen;
McCarthy, Mark I.

Publication type:

Article

Phenotype selection for detecting variable genes: a survey of cardiovascular quantitative traits and TNF locus polymorphism.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 685, doi. 10.1038/sj.ejhg.5201803

By:

Mun-Gwan Hong;
Bennet, Anna M.;
de Faire, Ulf;
Prince, Jonathan A.

Publication type:

Article

Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 619, doi. 10.1038/sj.ejhg.5201806

By:

Gerhardus, Ansgar;
Schleberger, Henriette;
Schlegelberger, Brigitte;
Gadzicki, Dorothea

Publication type:

Article

Does apolipoprotein E determine outcome of infection by varicella zoster virus and by Epstein Barr virus?

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 672, doi. 10.1038/sj.ejhg.5201812

By:

Wozniak, Matthew A.;
Shipley, Suzanne J.;
Dobson, Curtis B.;
Parker, Simon P.;
Scott, Fiona T.;
Leedham-Green, Mary;
Breuer, Judy;
Itzhaki, Ruth F.

Publication type:

Article

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813

By:

Morava, Eva;
Zeevaert, Renate;
Korsch, Eckhard;
Huijben, Karin;
Wopereis, Suzan;
Matthijs, Gert;
Keymolen, Kathelijn;
Lefeber, Dirk J.;
de Meirleir, Linda;
Wevers, Ron A.

Publication type:

Article

Communicating genetic information in families – a review of guidelines and position papers.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 612, doi. 10.1038/sj.ejhg.5201822

By:

Forrest, Laura E.;
Delatycki, Martin B.;
Skene, Loane;
Aitken, MaryAnne

Publication type:

Article

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 711, doi. 10.1038/sj.ejhg.5201824

By:

Belloso, Jose M.;
Bache, Iben;
Guitart, Miriam;
Caballin, Maria Rosa;
Halgren, Christina;
Kirchhoff, Maria;
Ropers, Hans-Hilger;
Tommerup, Niels;
Tümer, Zeynep

Publication type:

Article

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

Published in:

2007

By:

Pillai, Sreekumar G.;
Chiano, Mathias N.;
White, Nicola J.;
Speer, Marcy;
Barnes, Kathleen C.;
Carlsen, Karin;
Gerritsen, Jorrit;
Helms, Peter;
Lenney, Warren;
Silverman, Michael;
Sly, Peter;
Sundy, John;
Tsanakas, John;
von Berg, Andrea;
Whyte, Moira;
Varsani, Shela;
Skelding, Paul;
Hauser, Michael;
Vance, Jeffery;
Pericak-Vance, Margaret

Publication type:

Correction Notice