Works matching IS 03406717 AND DT 2011 AND VI 129 AND IP 4

Results: 12

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 371, doi. 10.1007/s00439-010-0931-3

By:

Nordin, Angelica;
Larsson, Elin;
Thornell, Lars-Eric;
Holmberg, Monica

Publication type:

Article

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 387, doi. 10.1007/s00439-010-0933-1

By:

de Becdelièvre, Alix;
Costa, Catherine;
Jouannic, Jean-Marie;
LeFloch, Annick;
Giurgea, Irina;
Martin, Josiane;
Médina, Rachel;
Boissier, Brigitte;
Gameiro, Christine;
Muller, Françoise;
Goossens, Michel;
Alberti, Corinne;
Girodon, Emmanuelle

Publication type:

Article

DFNB89 , a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 379, doi. 10.1007/s00439-010-0934-0

By:

Basit, Sulman;
Kwanghyuk Lee;
Habib, Rabia;
Leon Chen;
Umm-e-Kalsoom;
Santos-Cortez, Regie Lyn P.;
Azeem, Zahid;
Andrade, Paula;
Ansar, Muhammad;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 397, doi. 10.1007/s00439-010-0930-4

By:

Muhammad, Emad;
Leventhal, Neta;
Parvari, Galit;
Hanukoglu, Aaron;
Hanukoglu, Israel;
Chalifa-Caspi, Vered;
Feinstein, Yael;
Weinbrand, Jenny;
Jacoby, Harel;
Manor, Esther;
Nagar, Tal;
Beck, John C.;
Sheffield, Val C.;
Hershkovitz, Eli;
Parvari, Ruti

Publication type:

Article

Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 407, doi. 10.1007/s00439-010-0935-z

By:

Klimentidis, Yann C.;
Abrams, Marshall;
Jelai Wang;
Fernandez, Jose R.;
Allison, David B.

Publication type:

Article

Novel mutations in the keratin-74 ( KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 419, doi. 10.1007/s00439-010-0938-9

By:

Wasif, Naveed;
Naqvi, Syed Kamran ul-Hassan;
Basit, Sulman;
Ali, Nadir;
Ansar, Muhammad;
Ahmad, Wasim

Publication type:

Article

Distribution of the number of false discoveries in large-scale family-based association testing with application to the association between PTPN1 and hypertension and obesity.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 425, doi. 10.1007/s00439-010-0936-y

By:

Wen-Chang Wang;
Hsiung, Chao A.;
Lan-Chao Wang;
Lee-Ming Chuang;
Quertermous, Thomas;
I-Shou Chang

Publication type:

Article

Characterization of the ZBTB42 gene in humans and mice.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 433, doi. 10.1007/s00439-010-0940-2

By:

Devaney, Stephanie A.;
Mate, Suzanne E.;
Devaney, Joseph M.;
Hoffman, Eric P.

Publication type:

Article

Model-based prediction of human hair color using DNA variants.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 443, doi. 10.1007/s00439-010-0939-8

By:

Branicki, Wojciech;
Fan Liu;
van Duijn, Kate;
Draus-Barini, Jolanta;
Pośpiech, Ewelina;
Walsh, Susan;
Kupiec, Tomasz;
Wojas-Pelc, Anna;
Kayser, Manfred

Publication type:

Article

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 455, doi. 10.1007/s00439-010-0941-1

By:

Pen-Hua Su;
Jia-Yuh Chen;
Ju-Shan Yu;
Suh-Jen Chen;
Shun-Fa Yang

Publication type:

Article

The immortal life of Henrietta Lacks.

Published in:

2011

By:

Harper, Peter S.

Publication type:

Book Review

Revisiting Mendelian disorders through exome sequencing.

Published in:

Human Genetics, 2011, v. 129, n. 4, p. 351, doi. 10.1007/s00439-011-0964-2

By:

Chee-Seng Ku;
Naidoo, Nasheen;
Pawitan, Yudi

Publication type:

Article