Works matching IS 03406717 AND DT 2011 AND VI 129 AND IP 1

Results: 13

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 59, doi. 10.1007/s00439-010-0899-z

By:

Chapman, Nicola H.;
Estes, Annette;
Munson, Jeff;
Bernier, Raphael;
Webb, Sara J.;
Rothstein, Joseph H.;
Minshew, Nancy J.;
Dawson, Geraldine;
Schellenberg, Gerard D.;
Wijsman, Ellen M.

Publication type:

Article

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 45, doi. 10.1007/s00439-010-0896-2

By:

Borck, Guntram;
Wunram, Heidrun;
Steiert, Angela;
Volk, Alexander E.;
Körber, Friederike;
Roters, Sigrid;
Herkenrath, Peter;
Wollnik, Bernd;
Morris-Rosendahl, Deborah J.;
Kubisch, Christian

Publication type:

Article

Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 35, doi. 10.1007/s00439-010-0894-4

By:

Molina, Oscar;
Anton, Ester;
Vidal, Francesca;
Blanco, Joan

Publication type:

Article

Partial correlation network analyses to detect altered gene interactions in human disease: using preeclampsia as a model.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 25, doi. 10.1007/s00439-010-0893-5

By:

Johansson, Åsa;
Løset, Mari;
Mundal, Siv B.;
Johnson, Matthew P.;
Freed, Katy A.;
Fenstad, Mona H.;
Moses, Eric K.;
Austgulen, Rigmor;
Blangero, John

Publication type:

Article

Heather Skirton and Christine Patch: Genetics for the health sciences: a handbook for clinical healthcare.

Published in:

2011

By:

Thistlewood, Helen

Publication type:

Book Review

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 51, doi. 10.1007/s00439-010-0897-1

By:

Piret, Sian E.;
Danoy, Patrick;
Dahan, Karin;
Reed, Anita A. C.;
Pryce, Karena;
Wong, William;
Torres, Rosa J.;
Puig, Juan G.;
Müller, Thomas;
Kotanko, Peter;
Lhotta, Karl;
Devuyst, Olivier;
Brown, Matthew A.;
Thakker, Rajesh V.

Publication type:

Article

Genome-wide analysis of copy number variants in age-related macular degeneration.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 91, doi. 10.1007/s00439-010-0904-6

By:

Meyer, Kacie J.;
Davis, Lea K.;
Schindler, Emily I.;
Beck, John S.;
Rudd, Danielle S.;
Grundstad, A. Jason;
Scheetz, Todd E.;
Braun, Terry A.;
Fingert, John H.;
Alward, Wallace L.;
Kwon, Young H.;
Folk, James C.;
Russell, Stephen R.;
Wassink, Thomas H.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 71, doi. 10.1007/s00439-010-0901-9

By:

Sampat, Radhika;
Rong Fu;
Larovere, Laura E.;
Torres, Rosa J.;
Ceballos-Picot, Irene;
Fischbach, Michel;
de Kremer, Raquel;
Schretlen, David J.;
Puig, Juan Garcia;
Jinnah, H. A.

Publication type:

Article

−13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1.

Published in:

2011

By:

Olds, Lynne C.;
Jong Kun Ahn;
Sibley, Eric

Publication type:

Report

Genetic variants in the KIF6 region and coronary event reduction from statin therapy.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 17, doi. 10.1007/s00439-010-0892-6

By:

Yonghong Li;
Sabatine, Marc S.;
Tong, Carmen H.;
Ford, Ian;
Kirchgessner, Todd G.;
Packard, Christopher J.;
Robertson, Michele;
Rowland, Charles M.;
Bare, Lance A.;
Shepherd, James;
Devlin, James J.;
Iakoubova, Olga A.

Publication type:

Article

A novel survival multifactor dimensionality reduction method for detecting gene-gene interactions with application to bladder cancer prognosis.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 101, doi. 10.1007/s00439-010-0905-5

By:

Jiang Gui;
Moore, Jason H.;
Kelsey, Karl T.;
Marsit, Carmen J.;
Karagas, Margaret R.;
Andrew, Angeline S.

Publication type:

Article

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8

By:

Janssen, Sabine;
Ramaswami, Gokul;
Davis, Erica E.;
Hurd, Toby;
Airik, Rannar;
Kasanuki, Jennifer M.;
Van Der Kraak, Lauren;
Allen, Susan J.;
Beales, Philip L.;
Katsanis, Nicholas;
Otto, Edgar A.;
Hildebrandt, Friedhelm

Publication type:

Article

Regions of homozygosity and their impact on complex diseases and traits.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 1, doi. 10.1007/s00439-010-0920-6

By:

Chee Seng Ku;
Naidoo, Nasheen;
Shu Mei Teo;
Pawitan, Yudi

Publication type:

Article