Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 8

Results: 19

Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 890, doi. 10.1038/ejhg.2012.8

By:

Moskvina, Valentina;
Schmidt, Karl M;
Vedernikov, Alexey;
Owen, Michael J;
Craddock, Nicholas;
Holmans, Peter;
O'Donovan, Michael C

Publication type:

Article

Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 878, doi. 10.1038/ejhg.2012.11

By:

Oliveira, Patrícia;
Sanges, Remo;
Huntsman, David;
Stupka, Elia;
Oliveira, Carla

Publication type:

Article

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 870, doi. 10.1038/ejhg.2012.12

By:

Klüppel, Michael;
Samavarchi-Tehrani, Payman;
Liu, Kela;
Wrana, Jeffrey L;
Hinek, Aleksander

Publication type:

Article

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 905, doi. 10.1038/ejhg.2012.23

By:

Refsgaard, Lena;
Holst, Anders G;
Sadjadieh, Golnaz;
Haunsø, Stig;
Nielsen, Jonas B;
Olesen, Morten S

Publication type:

Article

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 863, doi. 10.1038/ejhg.2012.16

By:

Patel, Chirag;
Silcock, Lee;
McMullan, Dominic;
Brueton, Louise;
Cox, Helen

Publication type:

Article

Genome-wide analysis of epistasis in body mass index using multiple human populations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 857, doi. 10.1038/ejhg.2012.17

By:

Wei, Wen-Hua;
Hemani, Gib;
Gyenesei, Attila;
Vitart, Veronique;
Navarro, Pau;
Hayward, Caroline;
Cabrera, Claudia P;
Huffman, Jennifer E;
Knott, Sara A;
Hicks, Andrew A;
Rudan, Igor;
Pramstaller, Peter P;
Wild, Sarah H;
Wilson, James F;
Campbell, Harry;
Hastie, Nicholas D;
Wright, Alan F;
Haley, Chris S

Publication type:

Article

Direct-to-consumer genomic testing: systematic review of the literature on user perspectives.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 811, doi. 10.1038/ejhg.2012.18

By:

Goldsmith, Lesley;
Jackson, Leigh;
O'Connor, Anita;
Skirton, Heather

Publication type:

Article

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 825, doi. 10.1038/ejhg.2012.13

By:

Brett, Gemma R;
Metcalfe, Sylvia A;
Amor, David J;
Halliday, Jane L

Publication type:

Article

Clinical utility gene card for: Abetalipoproteinaemia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.30

By:

Burnett, John R;
Bell, Damon A;
Hooper, Amanda J;
Hegele, Robert A

Publication type:

Article

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.64

By:

Albuisson, Juliette;
Schmitt, Sébastien;
Baron, Sabine;
Bézieau, Stéphane;
Benito-Sanz, Sara;
Heath, Karen E

Publication type:

Article

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20

By:

Verbeek, Elly;
Meuwissen, Marije EC;
Verheijen, Frans W;
Govaert, Paul P;
Licht, Daniel J;
Kuo, Debbie S;
Poulton, Cathryn J;
Schot, Rachel;
Lequin, Maarten H;
Dudink, Jeroen;
Halley, Dicky J;
de Coo, René IF;
den Hollander, Jan C;
Oegema, Renske;
Gould, Douglas B;
Mancini, Grazia MS

Publication type:

Article

Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 837, doi. 10.1038/ejhg.2012.24

By:

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

Publication type:

Article

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 852, doi. 10.1038/ejhg.2012.19

By:

Gana, Simone;
Veggiotti, Pierangelo;
Sciacca, Giusy;
Fedeli, Cristina;
Bersano, Anna;
Micieli, Giuseppe;
Maghnie, Mohamad;
Ciccone, Roberto;
Rossi, Elena;
Plunkett, Katie;
Bi, Weimin;
Sutton, Vernon R;
Zuffardi, Orsetta

Publication type:

Article

Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB).

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.30

By:

Burnett, John R;
Bell, Damon A;
Hooper, Amanda J;
Hegele, Robert A

Publication type:

Article

Syndactyly: phenotypes, genetics and current classification.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 817, doi. 10.1038/ejhg.2012.14

By:

Malik, Sajid

Publication type:

Article

Estimating the contribution of genetic variants to difference in incidence of disease between population groups.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 831, doi. 10.1038/ejhg.2012.15

By:

Moonesinghe, Ramal;
Ioannidis, John PA;
Flanders, W Dana;
Yang, Quanhe;
Truman, Benedict I;
Khoury, Muin J

Publication type:

Article

Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Gucy2f zebrafish knockdown - a model for Gucy2d-related leber congenital amaurosis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 884, doi. 10.1038/ejhg.2012.10

By:

Stiebel-Kalish, Hadas;
Reich, Ehud;
Rainy, Nir;
Vatine, Gad;
Nisgav, Yael;
Tovar, Anna;
Gothilf, Yoav;
Bach, Michael

Publication type:

Article