Works matching IS 03406717 AND DT 2010 AND VI 128 AND IP 3

Results: 11

Genome-wide association filtering using a highly locus-specific transmission/disequilibrium test.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 325, doi. 10.1007/s00439-010-0854-z

By:

Abad-Grau, María M.;
Medina-Medina, Nuria;
Montes-Soldado, Rosana;
Moreno-Ortega, José;
Matesanz, Fuencisla

Publication type:

Article

Genome-wide association identifies a deletion in the 3′ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 315, doi. 10.1007/s00439-010-0855-y

By:

Meurs, Kathryn M.;
Mauceli, Evan;
Lahmers, Sunshine;
Acland, Gregory M.;
White, Stephen N.;
Lindblad-Toh, Kerstin

Publication type:

Article

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 233, doi. 10.1007/s00439-010-0852-1

By:

Rochette, J.;
Le Gac, G.;
Lassoued, K.;
Férec, C.;
Robson, K. J. H.

Publication type:

Article

Genome-wide searching of rare genetic variants in WTCCC data.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 269, doi. 10.1007/s00439-010-0849-9

By:

Tao Feng;
Xiaofeng Zhu

Publication type:

Article

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 303, doi. 10.1007/s00439-010-0856-x

By:

Jiann-Jou Yang;
Wen-Hung Wang;
Yen-Chun Lin;
Hsu-Huei Weng;
Jen-Tsung Yang;
Chung-Feng Hwang;
Che-Min Wu;
Shuan-Yow Li

Publication type:

Article

Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 293, doi. 10.1007/s00439-010-0850-3

By:

Eun Shin;
Shin-Hwa Lee;
Sung-Hwan Cho;
Seok Jung;
Sang Yoon;
Sung Park;
Jong Park;
Soo Uh;
Yang Kim;
Yong Kim;
Jae-Sung Choi;
Byung-Lae Park;
Hyoung Shin;
Choon-Sik Park

Publication type:

Article

Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 249, doi. 10.1007/s00439-010-0845-0

By:

Jonassaint, Charles R.;
Santos, Eunice R.;
Glover, Crystal M.;
Payne, Perry W.;
Fasaye, Grace-Ann;
Oji-Njideka, Nefertiti;
Hooker, Stanley;
Hernandez, Wenndy;
Kittles, Rick A.;
Foster, Morris W.;
Royal, Charmaine D.

Publication type:

Article

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 261, doi. 10.1007/s00439-010-0846-z

By:

Zelinger, Lina;
Greenberg, Alex;
Kohl, Susanne;
Banin, Eyal;
Sharon, Dror

Publication type:

Article

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.

Published in:

2010

By:

Tzur, Shay;
Rosset, Saharon;
Shemer, Revital;
Yudkovsky, Guennady;
Selig, Sara;
Tarekegn, Ayele;
Bekele, Endashaw;
Bradman, Neil;
Wasser, Walter G.;
Behar, Doron M.;
Skorecki, Karl

Publication type:

Report

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Published in:

Human Genetics, 2010, v. 128, n. 3, p. 281, doi. 10.1007/s00439-010-0848-x

By:

Mukhopadhyay, Arijit;
Kramer, Jamie M.;
Merkx, Gerard;
Lugtenberg, Dorien;
Smeets, Dominique F.;
Oortveld, Merel A. W.;
Blokland, Ellen A.W.;
Agrawal, Jyoti;
Schenck, Annette;
van Bokhoven, Hans;
Huys, Erik;
Schoenmakers, Eric F.;
van Kessel, Ad Geurts;
van Nouhuys, C. Erik;
Cremers, Frans P. M.

Publication type:

Article

Bonnie S. LeRoy, Patricia McCarthy Veach, Dianne M. Bartels (eds): Genetic counselling practice: advanced concepts and skills.

Published in:

2010

By:

Skirton, Heather

Publication type:

Book Review