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

Results: 19

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
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
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
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
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
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
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
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
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
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
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
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
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