Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 8

Results: 11

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 905, doi. 10.1007/s00439-015-1570-5

By:

Hwang, Daw-Yang;
Kohl, Stefan;
Fan, Xueping;
Vivante, Asaf;
Chan, Stefanie;
Dworschak, Gabriel;
Schulz, Julian;
Eerde, Albertien;
Hilger, Alina;
Gee, Heon;
Pennimpede, Tracie;
Herrmann, Bernhard;
Hoek, Glenn;
Renkema, Kirsten;
Schell, Christoph;
Huber, Tobias;
Reutter, Heiko;
Soliman, Neveen;
Stajic, Natasa;
Bogdanovic, Radovan

Publication type:

Article

Diversity of lactase persistence in African milk drinkers.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 917, doi. 10.1007/s00439-015-1573-2

By:

Jones, Bryony;
Oljira, Tamiru;
Liebert, Anke;
Zmarz, Pawel;
Montalva, Nicolas;
Tarekeyn, Ayele;
Ekong, Rosemary;
Thomas, Mark;
Bekele, Endashaw;
Bradman, Neil;
Swallow, Dallas

Publication type:

Article

The somatic autosomal mutation matrix in cancer genomes.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 851, doi. 10.1007/s00439-015-1566-1

By:

Temiz, Nuri;
Donohue, Duncan;
Bacolla, Albino;
Vasquez, Karen;
Cooper, David;
Mudunuri, Uma;
Ivanic, Joseph;
Cer, Regina;
Yi, Ming;
Stephens, Robert;
Collins, Jack;
Luke, Brian

Publication type:

Article

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 815, doi. 10.1007/s00439-015-1561-6

By:

Abumansour, Iman;
Hijazi, Hadia;
Alazmi, Anas;
Alzahrani, Fatma;
Bashiri, Fahad;
Hassan, Hamdy;
Alhaddab, Mohammed;
Alkuraya, Fowzan

Publication type:

Article

Confronting the missing epistasis problem: on the reproducibility of gene-gene interactions.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 837, doi. 10.1007/s00439-015-1564-3

By:

Murk, William;
Bracken, Michael;
DeWan, Andrew

Publication type:

Article

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 881, doi. 10.1007/s00439-015-1567-0

By:

Luijtgaarden, Koen;
Heijsman, Daphne;
Maugeri, Alessandra;
Weiss, Marjan;
Verhagen, Hence;
IJpma, Arne;
Brüggenwirth, Hennie;
Majoor-Krakauer, Danielle

Publication type:

Article

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 869, doi. 10.1007/s00439-015-1568-z

By:

Alston, Charlotte;
Ceccatelli Berti, Camilla;
Blakely, Emma;
Oláhová, Monika;
He, Langping;
McMahon, Colin;
Olpin, Simon;
Hargreaves, Iain;
Nolli, Cecilia;
McFarland, Robert;
Goffrini, Paola;
O'Sullivan, Maureen;
Taylor, Robert

Publication type:

Article

Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition.

Published in:

2015

By:

Christodoulou, John

Publication type:

Book Review

Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 895, doi. 10.1007/s00439-015-1572-3

By:

Zhang, Xu;
Zhang, Wei;
Saraf, Santosh;
Nouraie, Mehdi;
Han, Jin;
Gowhari, Michel;
Hassan, Johara;
Miasnikova, Galina;
Sergueeva, Adelina;
Nekhai, Sergei;
Kittles, Rick;
Machado, Roberto;
Garcia, Joe;
Gladwin, Mark;
Steinberg, Martin;
Sebastiani, Paola;
McClain, Donald;
Gordeuk, Victor

Publication type:

Article

Erratum to: The somatic autosomal mutation matrix in cancer genomes.

Published in:

2015

By:

Temiz, Nuri;
Donohue, Duncan;
Bacolla, Albino;
Vasquez, Karen;
Cooper, David;
Mudunuri, Uma;
Ivanic, Joseph;
Cer, Regina;
Yi, Ming;
Stephens, Robert;
Collins, Jack;
Luke, Brian

Publication type:

Erratum

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 823, doi. 10.1007/s00439-015-1559-0

By:

Liu, Fan;
Visser, Mijke;
Duffy, David;
Hysi, Pirro;
Jacobs, Leonie;
Lao, Oscar;
Zhong, Kaiyin;
Walsh, Susan;
Chaitanya, Lakshmi;
Wollstein, Andreas;
Zhu, Gu;
Montgomery, Grant;
Henders, Anjali;
Mangino, Massimo;
Glass, Daniel;
Bataille, Veronique;
Sturm, Richard;
Rivadeneira, Fernando;
Hofman, Albert;
IJcken, Wilfred

Publication type:

Article