Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 11

Results: 10

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1359, doi. 10.1007/s00439-014-1469-6

By:

Fieremans, Nathalie;
Bauters, Marijke;
Belet, Stefanie;
Verbeeck, Jelle;
Jansen, Anna;
Seneca, Sara;
Roelens, Filip;
Baere, Elfride;
Marynen, Peter;
Froyen, Guy

Publication type:

Article

Using familial information for variant filtering in high-throughput sequencing studies.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1331, doi. 10.1007/s00439-014-1479-4

By:

Bahlo, Melanie;
Tankard, Rick;
Lukic, Vesna;
Oliver, Karen;
Smith, Katherine

Publication type:

Article

Practical aspects of genome-wide association interaction analysis.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1343, doi. 10.1007/s00439-014-1480-y

By:

Gusareva, Elena;
Steen, Kristel

Publication type:

Article

Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1407, doi. 10.1007/s00439-014-1471-z

By:

Kennedy, Richard;
Ovsyannikova, Inna;
Haralambieva, Iana;
Lambert, Nathaniel;
Pankratz, V.;
Poland, Gregory

Publication type:

Article

Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1395, doi. 10.1007/s00439-014-1472-y

By:

Batai, Ken;
Murphy, Adam;
Shah, Ebony;
Ruden, Maria;
Newsome, Jennifer;
Agate, Sara;
Dixon, Michael;
Chen, Hua;
Deane, Leslie;
Hollowell, Courtney;
Ahaghotu, Chiledum;
Kittles, Rick

Publication type:

Article

Differentially co-expressed genes in postmortem prefrontal cortex of individuals with alcohol use disorders: influence on alcohol metabolism-related pathways.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1383, doi. 10.1007/s00439-014-1473-x

By:

Zhang, Huiping;
Wang, Fan;
Xu, Hongqin;
Liu, Yawen;
Liu, Jin;
Zhao, Hongyu;
Gelernter, Joel

Publication type:

Article

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1443, doi. 10.1007/s00439-014-1474-9

By:

Stewart, Douglas;
Messinger, Yoav;
Williams, Gretchen;
Yang, Jiandong;
Field, Amanda;
Schultz, Kris;
Harney, Laura;
Doros, Leslie;
Dehner, Louis;
Hill, D.

Publication type:

Article

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1419, doi. 10.1007/s00439-014-1475-8

By:

Ahmed, Iltaf;
Mittal, Kirti;
Sheikh, Taimoor;
Vasli, Nasim;
Rafiq, Muhammad;
Mikhailov, Anna;
Ohadi, Mehrnaz;
Mahmood, Huda;
Rouleau, Guy;
Bhatti, Attya;
Ayub, Muhammad;
Srour, Myriam;
John, Peter;
Vincent, John

Publication type:

Article

Common genetic variation in and near the melanocortin 4 receptor gene ( MC4R) is associated with body mass index in American Indian adults and children.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1431, doi. 10.1007/s00439-014-1477-6

By:

Muller, Yunhua;
Thearle, Marie;
Piaggi, Paolo;
Hanson, Robert;
Hoffman, Duncan;
Gene, Brittany;
Mahkee, Darin;
Huang, Ke;
Kobes, Sayuko;
Votruba, Susanne;
Knowler, William;
Bogardus, Clifton;
Baier, Leslie

Publication type:

Article

Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records.

Published in:

Human Genetics, 2014, v. 133, n. 11, p. 1369, doi. 10.1007/s00439-014-1466-9

By:

Sinnott, Jennifer;
Dai, Wei;
Liao, Katherine;
Shaw, Stanley;
Ananthakrishnan, Ashwin;
Gainer, Vivian;
Karlson, Elizabeth;
Churchill, Susanne;
Szolovits, Peter;
Murphy, Shawn;
Kohane, Isaac;
Plenge, Robert;
Cai, Tianxi

Publication type:

Article