Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 8

Results: 18

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23

By:

Hoornaert, Kristien P.;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A.;
Leroy, Jules G.;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I.;
Hennekam, Raoul C. M.;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Article

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 895, doi. 10.1038/ejhg.2010.45

By:

Renard, Marjolijn;
Holm, Tammy;
Veith, Regan;
Callewaert, Bert L.;
Adès, Lesley C.;
Baspinar, Osman;
Pickart, Angela;
Dasouki, Majed;
Hoyer, Juliane;
Rauch, Anita;
Trapane, Pamela;
Earing, Michael G.;
Coucke, Paul J.;
Sakai, Lynn Y.;
Dietz, Harry C.;
De Paepe, Anne M.;
Loeys, Bart L.

Publication type:

Article

Linkage disequilibrium and age of HLA region SNPs in relation to classic HLA gene alleles within Europe.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 924, doi. 10.1038/ejhg.2010.32

By:

Evseeva, Irina;
Nicodemus, Kristin K.;
Bonilla, Carolina;
Tonks, Susan;
Bodmer, Walter F.

Publication type:

Article

Usefulness of factor V Leiden mutation testing in clinical practice.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 862, doi. 10.1038/ejhg.2010.33

By:

Blinkenberg, Ellen Ø;
Kristoffersen, Ann-Helen;
Sandberg, Sverre;
Steen, Vidar M.;
Houge, Gunnar

Publication type:

Article

What is a meaningful result? Disclosing the results of genomic research in autism to research participants.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 867, doi. 10.1038/ejhg.2010.34

By:

Miller, Fiona Alice;
Hayeems, Robin Zoe;
Bytautas, Jessica Peace

Publication type:

Article

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 915, doi. 10.1038/ejhg.2010.21

By:

Pereira, Luísa;
Černý, Viktor;
Cerezo, María;
Silva, Nuno M.;
Hájek, Martin;
Vašíková, Alžběta;
Kujanová, Martina;
Brdička, Radim;
Salas, Antonio

Publication type:

Article

GWAS: heritability missing in action?

Published in:

2010

By:

Clarke, Angus J.;
Cooper, David N.

Publication type:

Letter

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

2010

By:

Hoornaert, Kristien P;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A;
Leroy, Jules G;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I;
Hennekam, Raoul CM;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Correction Notice

A sequence variant on 17q21 is associated with age at onset and severity of asthma.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 902, doi. 10.1038/ejhg.2010.38

By:

Halapi, Eva;
Gudbjartsson, Daniel F.;
Jonsdottir, Gudrun M.;
Bjornsdottir, Unnur S.;
Thorleifsson, Gudmar;
Helgadottir, Hafdis;
Williams, Carolyn;
Koppelman, Gerard H.;
Heinzmann, Andrea;
Boezen, H. Marike;
Jonasdottir, Aslaug;
Blondal, Thorarinn;
Gudjonsson, Sigurjon A.;
Jonasdottir, Adalbjorg;
Thorlacius, Theodora;
Henry, Amanda P.;
Altmueller, Janine;
Krueger, Marcus;
Shin, Hyoung Doo;
Soo-Taek Uh

Publication type:

Article

Detection of susceptibility genes as modifiers due to subgroup differences in complex disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 960, doi. 10.1038/ejhg.2010.39

By:

Bergen, Sarah E.;
Maher, Brion S.;
Fanous, Ayman H.;
Kendler, Kenneth S.

Publication type:

Article

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 965, doi. 10.1038/ejhg.2010.40

By:

Edener, Ulf;
Wöllner, Janine;
Hehr, Ute;
Kohl, Zacharias;
Schilling, Stefan;
Kreuz, Friedmar;
Bauer, Peter;
Bernard, Veronica;
Gillessen-Kaesbach, Gabriele;
Zühlke, Christine

Publication type:

Article

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 948, doi. 10.1038/ejhg.2010.36

By:

Bonaïti, Bernard;
Olsson, Malin;
Hellman, Urban;
Suhr, Ole;
Bonaïti-Pellié, Catherine;
Planté-Bordeneuve, Violaine

Publication type:

Article

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 882, doi. 10.1038/ejhg.2010.46

By:

Tosca, Lucie;
Brisset, Sophie;
Petit, François M.;
Lecerf, Laure;
Rousseau, Ghislaine;
Bas, Cécile;
Laroudie, Mireille;
Maurin, Marie-Laure;
Tapia, Sylvie;
Picone, Olivier;
Prevot, Sophie;
Goossens, Michel;
Labrune, Philippe;
Tachdjian, Gérard

Publication type:

Article

A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 933, doi. 10.1038/ejhg.2010.47

By:

Strug, Lisa J.;
Hodge, Susan E.;
Chiang, Theodore;
Pal, Deb K.;
Corey, Paul N.;
Rohde, Charles

Publication type:

Article

Therapeutic exon skipping for dysferlinopathies?

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 889, doi. 10.1038/ejhg.2010.4

By:

Aartsma-Rus, Annemieke;
Singh, Kavita H. K.;
Fokkema, Ivo F. A. C.;
Ginjaar, Ieke B.;
van Ommen, Gert-Jan;
den Dunnen, Johan T.;
van der Maarel, Silvère M.

Publication type:

Article

A simple Bayesian mixture model with a hybrid procedure for genome-wide association studies.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 942, doi. 10.1038/ejhg.2010.51

By:

Yu-Chung Wei;
Shu-Hui Wen;
Pei-Chun Chen;
Chih-Hao Wang;
Hsiao, Chuhsing K.

Publication type:

Article

A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-α levels.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 953, doi. 10.1038/ejhg.2010.52

By:

Bos, Steffan D.;
Lakenberg, Nico;
van der Breggen, Ruud;
Houwing-Duistermaat, Jeanine J.;
Kloppenburg, Margreet;
de Craen, Anton J. M.;
Beekman, Marian;
Meulenbelt, Ingrid;
Slagboom, P. Eline

Publication type:

Article

Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 909, doi. 10.1038/ejhg.2010.53

By:

Enciso-Mora, Victor;
Hosking, Fay J.;
Houlston, Richard S.

Publication type:

Article