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

Results: 18

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
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
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
GWAS: heritability missing in action?
Published in:
2010
By:
- Clarke, Angus J.;
- Cooper, David N.
Publication type:
Letter
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
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
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
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