Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 2

Results: 12

Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 147, doi. 10.1007/s00439-014-1503-8

By:

Fu, Xiazhou;
Cheng, Yibin;
Yuan, Jia;
Huang, Chunhua;
Cheng, Hanhua;
Zhou, Rongjia

Publication type:

Article

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 159, doi. 10.1007/s00439-014-1504-7

By:

Feingold, Eleanor;
Cooper, Margaret;
Vanyukov, Michael;
Reis, Steven;
Levy, Steven;
Vieira, Alexandre;
Marazita, Mary;
Shaffer, John;
Carlson, Jenna;
Stanley, Brooklyn;
Maher, Brion;
Slayton, Rebecca;
Willing, Marcia;
McNeil, Daniel;
Crout, Richard;
Weyant, Robert

Publication type:

Article

Revisiting heritability accounting for shared environmental effects and maternal inheritance.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 169, doi. 10.1007/s00439-014-1505-6

By:

Liu, Chunyu;
Dupuis, Josée;
Larson, Martin;
Cupples, L.;
Vasan, Ramachandran;
Meigs, James;
Levy, Daniel;
Ordovas, Jose;
Jacques, Paul

Publication type:

Article

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 181, doi. 10.1007/s00439-014-1509-2

By:

Walz, Katherina;
Brancati, Francesco;
Cohen, Devon;
Foster, Joseph;
Abad, Clemer;
Lei, Cao;
Zhang, Lily;
Diaz-Horta, Oscar;
Young, Juan;
Tekin, Mustafa;
Neilsen, Paul;
Callen, David;
Demir, Korcan;
Fisher, Richard;
Moffat, Michelle;
Verbeek, Nienke;
Bjørgo, Kathrine;
Lo Castro, Adriana;
Curatolo, Paolo;
Novelli, Giuseppe

Publication type:

Article

Empirical characteristics of family-based linkage to a complex trait: the ADIPOQ region and adiponectin levels.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 203, doi. 10.1007/s00439-014-1511-8

By:

Hellwege, Jacklyn;
Palmer, Nicholette;
Brown, Mark;
Ziegler, Julie;
Hawkins, Gregory;
Ng, Maggie;
Speliotes, Elizabeth;
Wagenknecht, Lynne;
Langefeld, Carl;
Bowden, Donald;
An, Sandy;
Guo, Xiuqing;
Chen, Ida;
Taylor, Kent;
Rotter, Jerome;
Lorenzo, Carlos;
Norris, Jill

Publication type:

Article

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 217, doi. 10.1007/s00439-014-1512-7

By:

Zhao, Li;
Wang, Feng;
Wang, Hui;
Li, Yumei;
Wang, Keqing;
Zaneveld, Jacques;
Jiang, Lichun;
Soens, Zachry;
Chen, Rui;
Alexander, Sharon;
Earle, Philip;
Simpson, David;
Silvestri, Giuliana;
Willoughby, Colin

Publication type:

Article

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 191, doi. 10.1007/s00439-014-1513-6

By:

Woodbury-Smith, Marc;
Paterson, Andrew;
Thiruvahindrapduram, Bhooma;
Lionel, Anath;
Marshall, Christian;
Merico, Daniele;
Kellam, Barbara;
Tammimies, Kristiina;
Walker, Susan;
Yuen, Ryan;
Uddin, Mohammed;
Howe, Jennifer;
Scherer, Stephen;
Fernandez, Bridget;
Whitten, Kathy;
Duku, Eric;
O'Conner, Irene;
Chrysler, Christina;
Thompson, Ann;
Sutcliffe, James

Publication type:

Article

Candidate locus analysis of the TERT- CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 231, doi. 10.1007/s00439-014-1515-4

By:

Fasching, Peter;
Lambrechts, Diether;
Amant, Frederic;
Salvesen, Helga;
Trovik, Jone;
Njolstad, Tormund;
Werner, Henrica;
Scott, Rodney;
Ashton, Katie;
Burwinkel, Barbara;
Marme, Frederik;
Brenner, Hermann;
Dieffenbach, Aida;
Depreeuw, Jeroen;
Moisse, Matthieu;
Couch, Fergus;
Giles, Graham;
Cunningham, Julie;
Børresen-Dale, Anne-Lise;
Kristensen, Vessela

Publication type:

Article

The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 247, doi. 10.1007/s00439-014-1517-2

By:

Hosseini, S.;
Boright, Andrew;
Sun, Lei;
Bull, Shelley;
Paterson, Andrew;
Canty, Angelo;
Klein, Barbara;
Klein, Ronald

Publication type:

Article

Erratum to: Empirical characteristics of family-based linkage to a complex trait: the ADIPOQ region and adiponectin levels.

Published in:

2015

By:

Hellwege, Jacklyn;
Palmer, Nicholette;
Brown, W.;
Ziegler, Julie;
Hawkins, Gregory;
Ng, Maggie;
Speliotes, Elizabeth;
Wagenknecht, Lynne;
Langefeld, Carl;
Bowden, Donald;
An, S.;
Guo, Xiuqing;
Chen, Y.-D.;
Taylor, Kent;
Rotter, Jerome;
Lorenzo, Carlos;
Norris, Jill

Publication type:

Erratum

Genetic and environmental components of family history in type 2 diabetes.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 259, doi. 10.1007/s00439-014-1519-0

By:

Cornelis, Marilyn;
Hu, Frank;
Kraft, Peter;
Price, Alkes;
Zaitlen, Noah

Publication type:

Article

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Published in:

Human Genetics, 2015, v. 134, n. 2, p. 131, doi. 10.1007/s00439-014-1500-y

By:

Wojciechowski, Robert;
Verhoeven, Virginie;
Ikram, Mohammad;
Höhn, René;
Hewitt, Alex;
Cheng, Ching-Yu;
St Pourcain, Beaté;
McMahon, George;
Kemp, John;
Rahi, Jugnoo;
Cumberland, Phillippa;
Wedenoja, Juho;
Schillert, Arne;
Mirshahi, Alireza;
Yip, Shea;
Hofman, Albert;
Uitterlinden, André;
Rivadeneira, Fernando;
Teo, Yik-Ying;
Tai, E.

Publication type:

Article