Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 1

Results: 13

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 9, doi. 10.1007/s00439-015-1605-y

By:

Lee, Winston;
Xie, Yajing;
Zernant, Jana;
Yuan, Bo;
Bearelly, Srilaxmi;
Tsang, Stephen;
Lupski, James;
Allikmets, Rando

Publication type:

Article

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 41, doi. 10.1007/s00439-015-1606-x

By:

Conte, Federica;
Oti, Martin;
Dixon, Jill;
Carels, Carine;
Rubini, Michele;
Zhou, Huiqing

Publication type:

Article

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 21, doi. 10.1007/s00439-015-1608-8

By:

Shamseldin, Hanan;
Smith, Laura;
Kentab, Amal;
Alkhalidi, Hisham;
Summers, Brady;
Alsedairy, Haifa;
Xiong, Yong;
Gupta, Vandana;
Alkuraya, Fowzan

Publication type:

Article

Pathway-based variant enrichment analysis on the example of dilated cardiomyopathy.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 31, doi. 10.1007/s00439-015-1609-7

By:

Backes, Christina;
Meder, Benjamin;
Lai, Alan;
Stoll, Monika;
Rühle, Frank;
Katus, Hugo;
Keller, Andreas

Publication type:

Article

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 69, doi. 10.1007/s00439-015-1610-1

By:

Kosfeld, Anne;
Kreuzer, Martin;
Daniel, Christoph;
Brand, Frank;
Schäfer, Anne-Kathrin;
Chadt, Alexandra;
Weiss, Anna-Carina;
Riehmer, Vera;
Jeanpierre, Cécile;
Klintschar, Michael;
Bräsen, Jan;
Amann, Kerstin;
Pape, Lars;
Kispert, Andreas;
Al-Hasani, Hadi;
Haffner, Dieter;
Weber, Ruthild

Publication type:

Article

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 61, doi. 10.1007/s00439-015-1611-0

By:

Fujita, Atsushi;
Ando, Katsutoshi;
Kobayashi, Etsuko;
Mitani, Keiko;
Okudera, Koji;
Nakashima, Mitsuko;
Miyatake, Satoko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Seyama, Kuniaki;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 109, doi. 10.1007/s00439-015-1612-z

By:

Heaton, Timothy;
Chico, Victoria

Publication type:

Article

Mayana Katz, Ketih Okamoto: Stem cells in modeling human genetic diseases.

Published in:

2016

By:

Schnell, Christian

Publication type:

Book Review

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 121, doi. 10.1007/s00439-015-1615-9

By:

Santorsola, Mariangela;
Calabrese, Claudia;
Girolimetti, Giulia;
Diroma, Maria;
Gasparre, Giuseppe;
Attimonelli, Marcella

Publication type:

Article

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 137, doi. 10.1007/s00439-015-1616-8

By:

Lei, Jieping;
Rudolph, Anja;
Moysich, Kirsten;
Behrens, Sabine;
Goode, Ellen;
Bolla, Manjeet;
Dennis, Joe;
Dunning, Alison;
Easton, Douglas;
Wang, Qin;
Benitez, Javier;
Hopper, John;
Southey, Melissa;
Schmidt, Marjanka;
Broeks, Annegien;
Fasching, Peter;
Haeberle, Lothar;
Peto, Julian;
dos-Santos-Silva, Isabel;
Sawyer, Elinor

Publication type:

Article

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 89, doi. 10.1007/s00439-015-1617-7

By:

Arai-Ichinoi, Natsuko;
Uematsu, Mitsugu;
Sato, Ryo;
Suzuki, Tasuku;
Kudo, Hiroki;
Kikuchi, Atsuo;
Hino-Fukuyo, Naomi;
Matsumoto, Mitsuyo;
Igarashi, Kazuhiko;
Haginoya, Kazuhiro;
Kure, Shigeo

Publication type:

Article

EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 99, doi. 10.1007/s00439-015-1618-6

By:

Peng, Qianqian;
Li, Jinxi;
Tan, Jingze;
Yang, Yajun;
Zhang, Manfei;
Wu, Sijie;
Liu, Yu;
Zhang, Juan;
Qin, Pengfei;
Guan, Yaqun;
Jiao, Yi;
Zhang, Zhaoxia;
Sabeti, Pardis;
Tang, Kun;
Xu, Shuhua;
Jin, Li;
Wang, Sijia

Publication type:

Article

Europeans have a higher proportion of high-frequency deleterious variants than Africans.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 1, doi. 10.1007/s00439-015-1604-z

By:

Subramanian, Sankar

Publication type:

Article