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