Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 6

Results: 22

Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 640, doi. 10.1038/ejhg.2010.258

By:

Metcalfe, Alison;
Plumridge, Gill;
Coad, Jane;
Shanks, Andrew;
Gill, Paramjit

Publication type:

Article

Pathway-based identification of SNPs predictive of survival.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 704, doi. 10.1038/ejhg.2011.3

By:

Pang, Herbert;
Hauser, Michael;
Minvielle, Stéphane

Publication type:

Article

Model-Based Multifactor Dimensionality Reduction to detect epistasis for quantitative traits in the presence of error-free and noisy data.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 696, doi. 10.1038/ejhg.2011.17

By:

Mahachie John, Jestinah M.;
Van Lishout, François;
Van Steen, Kristel

Publication type:

Article

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 634, doi. 10.1038/ejhg.2010.238

By:

Patel, Chirag;
Cooper-Charles, Lisa;
McMullan, Dominic J.;
Walker, Judith M.;
Davison, Val;
Morton, Jenny

Publication type:

Article

Clinical utility gene card for: blue cone monochromatism.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.232

By:

Kohl, Susanne;
Hamel, Christian P

Publication type:

Article

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 682, doi. 10.1038/ejhg.2011.2

By:

Einarsdottir, Elisabet;
Bevova, Marianna R.;
Zhernakova, Alexandra;
Monsuur, Alienke;
Koskinen, Lotta L. E.;
Slot, Ruben van't;
Mulder, Chris;
Mearin, M. Luisa;
Korponay-Szabo, Ilma R.;
Kaukinen, Katri;
Kurppa, Kalle;
Kere, Juha;
Mäki, Markku;
Wijmenga, Cisca;
Saavalainen, Päivi

Publication type:

Article

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 727, doi. 10.1038/ejhg.2011.24

By:

Nord, Alex S.;
Roeb, Wendy;
Dickel, Diane E.;
Walsh, Tom;
Kusenda, Mary;
O'Connor, Kristen Lewis;
Malhotra, Dheeraj;
McCarthy, Shane E.;
Stray, Sunday M.;
Taylor, Susan M.;
Sebat, Jonathan;
King, Bryan;
King, Mary-Claire;
McClellan, Jon M.

Publication type:

Article

Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 710, doi. 10.1038/ejhg.2011.22

By:

Saint-Pierre, Aude;
Kaufman, Jean-Marc;
Ostertag, Agnes;
Cohen-Solal, Martine;
Boland, Anne;
Toye, Kaatje;
Zelenika, Diana;
Lathrop, Mark;
de Vernejoul, Marie-Christine;
Martinez, Maria

Publication type:

Article

Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 721, doi. 10.1038/ejhg.2011.4

By:

Qin Shen;
Zhou Zhang;
Lan Yu;
Lan Cao;
DaiZhan Zhou;
MengYuan Kan;
Baojie Li;
Di Zhang;
Lin He;
Yun Liu

Publication type:

Article

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 724, doi. 10.1038/ejhg.2011.8

By:

Namavar, Yasmin;
Chitayat, David;
Barth, Peter G.;
van Ruissen, Fred;
de Wissel, Marit B.;
Poll-The, Bwee Tien;
Silver, Rachel;
Baas, Frank

Publication type:

Article

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244

By:

Jensen, Lars R.;
Wei Chen;
Moser, Bettina;
Lipkowitz, Bettina;
Schroeder, Christopher;
Musante, Luciana;
Tzschach, Andreas;
Kalscheuer, Vera M.;
Meloni, Ilaria;
Raynaud, Martine;
van Esch, Hilde;
Chelly, Jamel;
de Brouwer, Arjan P. M.;
Hackett, Anna;
van der Haar, Sigrun;
Henn, Wolfram;
Gecz, Jozef;
Riess, Olaf;
Bonin, Michael;
Reinhardt, Richard

Publication type:

Article

Identification of regions of positive selection using Shared Genomic Segment analysis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 667, doi. 10.1038/ejhg.2010.257

By:

Zheng Cai;
Camp, Nicola J.;
Cannon-Albright, Lisa;
Thomas, Alun

Publication type:

Article

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 647, doi. 10.1038/ejhg.2010.256

By:

Yaou, Rabah Ben;
Navarro, Claire;
Quijano-Roy, Susana;
Bertrand, Anne T.;
Massart, Catherine;
De Sandre-Giovannoli, Annachiara;
Cadiñanos, Juan;
Mamchaoui, Kamel;
Butler-Browne, Gillian;
Estournet, Brigitte;
Richard, Pascale;
Barois, Annie;
Lévy, Nicolas;
Bonne, Gisèle

Publication type:

Article

Genome-wide association study confirms extant PD risk loci among the Dutch.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 655, doi. 10.1038/ejhg.2010.254

By:

Simón-Sánchez, Javier;
van Hilten, Jacobus J.;
van de Warrenburg, Bart;
Post, Bart;
Berendse, Henk W.;
Arepalli, Sampath;
Hernandez, Dena G.;
de Bie, Rob M. A.;
Velseboer, Daan;
Scheffer, Hans;
Bloem, Bas;
van Dijk, Karin D.;
Rivadeneira, Fernando;
Hofman, Albert;
Uitterlinden, André G.;
Rizzu, Patrizia;
Bochdanovits, Zoltan;
Singleton, Andrew B.;
Heutink, Peter

Publication type:

Article

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 662, doi. 10.1038/ejhg.2011.10

By:

Jostins, Luke;
Morley, Katherine I;
Barrett, Jeffrey C

Publication type:

Article

Clinical utility gene card for: malignant hyperthermia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.248

By:

Rosenberg, Henry;
Rueffert, Henrik

Publication type:

Article

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 624, doi. 10.1038/ejhg.2010.259

By:

Barnett, Christopher P.;
Chitayat, David;
Bradley, Timothy J.;
Yanting Wang;
Hinek, Aleksander

Publication type:

Article

von Hippel-Lindau disease: A clinical and scientific review.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 617, doi. 10.1038/ejhg.2010.175

By:

Maher, Eamonn R;
Neumann, Hartmut PH;
Richard, Stéphane

Publication type:

Article

Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 687, doi. 10.1038/ejhg.2010.251

By:

Villanueva, Pia;
Newbury, Dianne F.;
Jara, Lilian;
De Barbieri, Zulema;
Mirza, Ghazala;
Palomino, Hernán M.;
Fernández, María Angélica;
Cazier, Jean-Baptiste;
Monaco, Anthony P.;
Palomino, Hernán

Publication type:

Article

Clinical utility gene card for: achromatopsia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.231

By:

Kohl, Susanne;
Hamel, Christian P.

Publication type:

Article

Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 672, doi. 10.1038/ejhg.2011.6

By:

Hyunju Ryoo;
Jiyoung Woo;
Younyoung Kim;
Chaeyoung Lee

Publication type:

Article

Polymorphisms in MC3R promoter and CTSZ 3′UTR are associated with tuberculosis susceptibility.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 6, p. 676, doi. 10.1038/ejhg.2011.1

By:

Adams, Lindsey A.;
Möller, Marlo;
Nebel, Almut;
Schreiber, Stefan;
van der Merwe, Lize;
van Helden, Paul D.;
Hoal, Eileen G.

Publication type:

Article