Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 6

Results: 19

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 733, doi. 10.1038/ejhg.2009.225

By:

Farooq, Muhammad;
Troelsen, Jesper T.;
Boyd, Mette;
Eiberg, Hans;
Hansen, Lars;
Hussain, Muhammad Sajid;
Rehman, Shoaib ur;
Azhar, Aysha;
Ali, Amjad;
Bakhtiar, Syeda Marriam;
Tommerup, Niels;
Baig, Shahid Mahmood;
Kjaer, Klaus W.

Publication type:

Article

Genetic variants in the BDNF gene and therapeutic response to risperidone in schizophrenia patients: a pharmacogenetic study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 707, doi. 10.1038/ejhg.2009.238

By:

Mingqing Xu;
Sheng Li;
Qinghe Xing;
Rui Gao;
Guoyin Feng;
Zhiguang Lin;
St Clair, David;
Lin He

Publication type:

Article

Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 680, doi. 10.1038/ejhg.2009.226

By:

McDougal, Kathryn E.;
Green, Deanna M.;
Vanscoy, Lori L.;
Fallin, M. Daniele;
Grow, Michael;
Cheng, Suzanne;
Blackman, Scott M.;
Collaco, J. Michael;
Henderson, Lindsay B.;
Naughton, Kathleen;
Cutting, Garry R.

Publication type:

Article

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 636, doi. 10.1038/ejhg.2009.235

By:

Bisceglia, Luigi;
Zoccolella, Stefano;
Torraco, Alessandra;
Piemontese, Maria Rosaria;
Dell'Aglio, Rosa;
Amati, Angela;
De Bonis, Patrizia;
Artuso, Lucia;
Copetti, Massimiliano;
Santorelli, Filippo Maria;
Serlenga, Luigi;
Zelante, Leopoldo;
Bertini, Enrico;
Petruzzella, Vittoria

Publication type:

Article

Coffin–Lowry syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 627, doi. 10.1038/ejhg.2009.189

By:

Marques Pereira, Patricia;
Schneider, Anne;
Pannetier, Solange;
Heron, Delphine;
Hanauer, André

Publication type:

Article

An omnibus test for family-based association studies with multiple SNPs and multiple phenotypes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 720, doi. 10.1038/ejhg.2009.221

By:

Lasky-Su, Jessica;
Murphy, Amy;
McQueen, Matthew B.;
Weiss, Scott;
Lange, Christoph

Publication type:

Article

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 700, doi. 10.1038/ejhg.2009.224

By:

Bouzigon, Emmanuelle;
Forabosco, Paola;
Koppelman, Gerard H.;
Cookson, William O. C. M.;
Dizier, Marie-Hélène;
Duffy, David L.;
Evans, David M.;
Ferreira, Manuel A. R.;
Kere, Juha;
Laitinen, Tarja;
Malerba, Giovanni;
Meyers, Deborah A.;
Moffatt, Miriam;
Martin, Nicholas G.;
Ng, Mandy Y.;
Pignatti, Pier Franco;
Wjst, Mathias;
Kauffmann, Francine;
Demenais, Florence;
Lewis, Cathryn M.

Publication type:

Article

A genome-wide association study for age-related hearing impairment in the Saami.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 685, doi. 10.1038/ejhg.2009.234

By:

Van Laer, Lut;
Huyghe, Jeroen R.;
Hannula, Samuli;
Van Eyken, Els;
Stephan, Dietrich A.;
Mäki-Torkko, Elina;
Aikio, Pekka;
Fransen, Erik;
Lysholm-Bernacchi, Alana;
Sorri, Martti;
Huentelman, Matthew J.;
Van Camp, Guy

Publication type:

Article

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 662, doi. 10.1038/ejhg.2009.236

By:

Genzer-Nir, Mira;
Khayat, Morad;
Kogan, Leonid;
Cohen, Hector I.;
Hershkowitz, Miriam;
Geiger, Dan;
Falik-Zaccai, Tzipora C.

Publication type:

Article

Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 668, doi. 10.1038/ejhg.2009.237

By:

Lind, Penelope A.;
Luciano, Michelle;
Wright, Margaret J.;
Montgomery, Grant W.;
Martin, Nicholas G.;
Bates, Timothy C.

Publication type:

Article

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 726, doi. 10.1038/ejhg.2009.228

By:

Ingersoll, Roxann G.;
Hetmanski, Jacqueline;
Ji-Wan Park;
Fallin, M. Daniele;
McIntosh, Iain;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Yeow, Vincent;
Chong, Samuel S.;
Cheah, Felicia;
Jae Woong Sull;
Sun Ha Jee;
Hong Wang;
Tao Wu;
Murray, Tanda;
Shangzhi Huang;
Xiaoqian Ye;
Jabs, Ethylin Wang;
Redett, Richard;
Raymond, Gerald

Publication type:

Article

Polymorphisms in the sialic acid-binding immunoglobulin-like lectin-8 (Siglec-8) gene are associated with susceptibility to asthma.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 713, doi. 10.1038/ejhg.2009.239

By:

Pei-Song Gao;
Shimizu, Kenichi;
Grant, Audrey V.;
Rafaels, Nicholas;
Lin-Fu Zhou;
Hudson, Sherry A.;
Konno, Satoshi;
Zimmermann, Nives;
Araujo, Maria I.;
Ponte, Eduardo V.;
Cruz, Alvaro A.;
Nishimura, Masaharu;
Song-Nan Su;
Nobuyuki Hizawa;
Beaty, Terry H.;
Mathias, Rasika A.;
Rothenberg, Marc E.;
Barnes, Kathleen C.;
Bochner, Bruce S.

Publication type:

Article

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 674, doi. 10.1038/ejhg.2009.241

By:

Sparrow, Duncan B.;
Sillence, David;
Wouters, Merridee A.;
Turnpenny, Peter D.;
Dunwoodie, Sally L.

Publication type:

Article

Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 642, doi. 10.1038/ejhg.2009.242

By:

Rauch, Frank;
Lalic, Liljana;
Roughley, Peter;
Glorieux, Francis H.

Publication type:

Article

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Published in:

2010

By:

Tosi, Mario;
Stamm, Stefan;
Baralle, Diana

Publication type:

Proceeding

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 656, doi. 10.1038/ejhg.2009.244

By:

Kuechler, Amla;
Hauffa, Berthold P.;
Köninger, Angela;
Kleinau, Gunnar;
Albrecht, Beate;
Horsthemke, Bernhard;
Gromoll, Jörg

Publication type:

Article

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 648, doi. 10.1038/ejhg.2009.246

By:

Turner, Claire Louise Susan;
Mackay, Deborah M.;
Callaway, Jonathan L. A.;
Docherty, Louise E.;
Poole, Rebecca L.;
Bullman, Hilary;
Lever, Margaret;
Castle, Bruce M.;
Kivuva, Emma C.;
Turnpenny, Peter D.;
Mehta, Sarju G.;
Mansour, Sahar;
Wakeling, Emma L.;
Mathew, Verghese;
Madden, Jackie;
Davies, Justin H.;
Temple, I. Karen

Publication type:

Article

Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration.

Published in:

2010

By:

Kondo, Naoshi;
Bessho, Hiroaki;
Honda, Shigeru;
Negi, Akira

Publication type:

Letter

Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 6, p. 694, doi. 10.1038/ejhg.2010.3

By:

Ruppert, Volker;
Meyer, Thomas;
Struwe, Clarissa;
Petersen, Jana;
Perrot, Andreas;
Posch, Maximilian G.;
Özcelik, Cemil;
Richter, Anette;
Maisch, Bernhard;
Pankuweit, Sabine

Publication type:

Article