Volume 129; Issue 4

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Human Genetics
Volume 129; Issue 4

Human Genetics

Volume 129; Issue 4

1

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 296 KB

english, 2011

2

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 369 KB

english, 2011

3

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 304 KB

english, 2011

4

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 404 KB

english, 2011

5

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 473 KB

english, 2011

6

Distribution of the number of false discoveries in large-scale family-based association testing with application to the association betweenPTPN1and hypertension and obesity

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

Journal:

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

7

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 413 KB

english, 2011

8

Model-based prediction of human hair color using DNA variants

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

Journal:

Year:

2011

Language:

english

File:

PDF, 408 KB

english, 2011

9

Characterization of theZBTB42gene in humans and mice

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

Journal:

Year:

2011

Language:

english

File:

PDF, 598 KB

english, 2011

10

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

11

Rebecca Skloot: The immortal life of Henrietta Lacks

Peter S. Harper

Journal:

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

12

Revisiting Mendelian disorders through exome sequencing

Chee-Seng Ku, Nasheen Naidoo, Yudi Pawitan

Journal:

Year:

2011

Language:

english

File:

PDF, 342 KB

english, 2011