Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 1

Results: 10

The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 29, doi. 10.1007/s00439-013-1351-y

By:

Schreml, Julia;
Durmaz, Burak;
Cogulu, Ozgur;
Keupp, Katharina;
Beleggia, Filippo;
Pohl, Esther;
Milz, Esther;
Coker, Mahmut;
Ucar, Sema;
Nürnberg, Gudrun;
Nürnberg, Peter;
Kuhn, Joachim;
Ozkinay, Ferda

Publication type:

Article

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 95, doi. 10.1007/s00439-013-1355-7

By:

Shameer, Khader;
Denny, Joshua;
Ding, Keyue;
Jouni, Hayan;
Crosslin, David;
Andrade, Mariza;
Chute, Christopher;
Peissig, Peggy;
Pacheco, Jennifer;
Li, Rongling;
Bastarache, Lisa;
Kho, Abel;
Ritchie, Marylyn;
Masys, Daniel;
Chisholm, Rex;
Larson, Eric;
McCarty, Catherine;
Roden, Dan;
Jarvik, Gail;
Kullo, Iftikhar

Publication type:

Article

Genome-wide association study and meta-analysis of intraocular pressure.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 41, doi. 10.1007/s00439-013-1349-5

By:

Ozel, A.;
Moroi, Sayoko;
Reed, David;
Nika, Melisa;
Schmidt, Caroline;
Akbari, Sara;
Scott, Kathleen;
Rozsa, Frank;
Pawar, Hemant;
Musch, David;
Lichter, Paul;
Gaasterland, Doug;
Branham, Kari;
Gilbert, Jesse;
Garnai, Sarah;
Chen, Wei;
Othman, Mohammad;
Heckenlively, John;
Swaroop, Anand;
Abecasis, Gonçalo

Publication type:

Article

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 1, doi. 10.1007/s00439-013-1358-4

By:

Stenson, Peter;
Mort, Matthew;
Ball, Edward;
Shaw, Katy;
Phillips, Andrew;
Cooper, David

Publication type:

Article

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 11, doi. 10.1007/s00439-013-1353-9

By:

Warburton, Dorothy;
Ronemus, Michael;
Kline, Jennie;
Jobanputra, Vaidehi;
Williams, Ismee;
Anyane-Yeboa, Kwame;
Chung, Wendy;
Yu, Lan;
Wong, Nancy;
Awad, Danielle;
Yu, Chih-yu;
Leotta, Anthony;
Kendall, Jude;
Yamrom, Boris;
Lee, Yoon-ha;
Wigler, Michael;
Levy, Dan

Publication type:

Article

Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 85, doi. 10.1007/s00439-013-1354-8

By:

Koran, Mary;
Hohman, Timothy;
Thornton-Wells, Tricia

Publication type:

Article

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 111, doi. 10.1007/s00439-013-1362-8

By:

Shea, Lindsay;
Newschaffer, Craig;
Xie, Ming;
Myers, Scott;
Mandell, David

Publication type:

Article

Haptoglobin ( HP) and Haptoglobin-related protein ( HPR) copy number variation, natural selection, and trypanosomiasis.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 69, doi. 10.1007/s00439-013-1352-x

By:

Hardwick, Robert;
Ménard, Anne;
Sironi, Manuela;
Milet, Jacqueline;
Garcia, André;
Sese, Claude;
Yang, Fengtang;
Fu, Beiyuan;
Courtin, David;
Hollox, Edward

Publication type:

Article

WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 117, doi. 10.1007/s00439-013-1360-x

By:

Song, Shujuan;
Zhao, Ruiying;
He, Huiying;
Zhang, Jin;
Feng, Hailan;
Lin, Liyun

Publication type:

Article

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 59, doi. 10.1007/s00439-013-1356-6

By:

Pastori, Chiara;
Peschansky, Veronica;
Barbouth, Deborah;
Mehta, Arpit;
Silva, Jose;
Wahlestedt, Claes

Publication type:

Article