Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 8

Results: 23

Clinical utility gene card for: Gorlin syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.9

By:

Muzio, Lorenzo Lo;
Pastorino, Lorenza;
Levanat, Sonja;
Musani, Vesna;
Situm, Mima;
Scarra, Giovanna Bianchi

Publication type:

Article

Meta-analysis of genome-wide association for migraine in six population-based European cohorts.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 901, doi. 10.1038/ejhg.2011.48

By:

Ligthart, Lannie;
de Vries, Boukje;
Smith, Albert V.;
Ikram, M. Arfan;
Amin, Najaf;
Hottenga, Jouke-Jan;
Koelewijn, Stephany C.;
Kattenberg, V. Mathijs;
de Moor, Marleen H. M.;
Janssens, A. Cecile J. W.;
Aulchenko, Yurii S.;
Oostra, Ben A.;
de Geus, Eco J. C.;
Smit, Johannes H.;
Zitman, Frans G.;
Uitterlinden, André G.;
Hofman, Albert;
Willemsen, Gonneke;
Nyholt, Dale R.;
Montgomery, Grant W.

Publication type:

Article

Variable set enrichment analysis in genome-wide association studies.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 893, doi. 10.1038/ejhg.2011.46

By:

Wei Yang;
de las Fuentes, Lisa;
Dávila-Román, Victor G.;
Gu, C. Charles

Publication type:

Article

Clinical utility gene card for: Mowat-Wilson syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.12

By:

Zollino, Marcella;
Garavelli, Livia;
Rauch, Anita

Publication type:

Article

Association of TH01 with human longevity revisited.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 924, doi. 10.1038/ejhg.2011.43

By:

von Wurmb-Schwark, Nicole;
Caliebe, Amke;
Schwark, Thorsten;
Kleindorp, Rabea;
Poetsch, Micaela;
Schreiber, Stefan;
Nebel, Almut

Publication type:

Article

Gene set analysis of SNP data: benefits, challenges, and future directions.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 837, doi. 10.1038/ejhg.2011.57

By:

Fridley, Brooke L.;
Biernacka, Joanna M.

Publication type:

Article

Everything a health professional needs to know about genetics.

Published in:

2011

By:

Toriello, Helga

Publication type:

Book Review

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 833, doi. 10.1038/ejhg.2011.25

By:

Janssens, A. Cecile J. W.;
Ioannidis, John P. A.;
van Duijn, Cornelia M.;
Little, Julian;
Khoury, Muin J.

Publication type:

Article

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 857, doi. 10.1038/ejhg.2011.59

By:

Boyle, Jennifer;
Hawkins, Malcolm;
Barton, David E.;
Meaney, Karen;
Guitart, Miriam;
O'Grady, Anna;
Tobi, Simon;
Ramsden, Simon C.;
Elles, Rob;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J. Ross

Publication type:

Article

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2010.243

By:

Pinto, Yigal M.;
Wilde, Arthur A. A. M.;
van Rijsingen, Ingrid A. W.;
Christiaans, Imke;
Deprez, Ronald H. Lekanne;
Elliott, Perry M.

Publication type:

Article

A novel approach for small sample size family-based association studies: sequential tests.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 915, doi. 10.1038/ejhg.2011.51

By:

Ilk, Ozlem;
Rajabli, Farid;
Dungul, Dilay Ciglidag;
Ozdag, Hilal;
Ilk, Hakki Gokhan

Publication type:

Article

Clinical utility gene card for: Gitelman syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.14

By:

Knoers, Nine V. A. M.;
Devuyst, Olivier;
Kamsteeg, Erik-Jan

Publication type:

Article

Clinical utility gene card for: Usher syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.15

By:

Bolz, Hanno J.;
Roux, Anne-Françoise

Publication type:

Article

Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 928, doi. 10.1038/ejhg.2011.53

By:

Schully, Sheri D.;
Wei Yu;
McCallum, Victoria;
Benedicto, Camilla B.;
Dong, Linda M.;
Wulf, Anja;
Clyne, Melinda;
Khoury, Muin J.

Publication type:

Article

New disease gene location and high genetic heterogeneity in idiopathic scoliosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 865, doi. 10.1038/ejhg.2011.31

By:

Edery, Patrick;
Margaritte-Jeannin, Patricia;
Biot, Bernard;
Labalme, Audrey;
Bernard, Jean-Claude;
Chastang, Joëlle;
Kassai, Behrouz;
Plais, Marie-Helene;
Moldovan, Florina;
Clerget-Darpoux, Francoise

Publication type:

Article

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 870, doi. 10.1038/ejhg.2011.37

By:

Jongmans, Marjolijn C. J.;
van der Burgt, Ineke;
Hoogerbrugge, Peter M.;
Noordam, Kees;
Yntema, Helger G.;
Nillesen, Willy M.;
Kuiper, Roland P.;
Ligtenberg, Marjolijn J. L.;
van Kessel, Ad Geurts;
van Krieken, J. Han J. M.;
Kiemeney, Lambertus A. L. M.;
Hoogerbrugge, Nicoline

Publication type:

Article

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 921, doi. 10.1038/ejhg.2011.41

By:

Madrigal, Irene;
Xunclà, Mar;
Tejada, Maria Isabel;
Martínez, Francisco;
Fernández-Carvajal, Isabel;
Pérez-Jurado, Luís Alberto;
Rodriguez-Revenga, Laia;
Milà, Montserrat

Publication type:

Article

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 887, doi. 10.1038/ejhg.2011.44

By:

Houlle, Solene;
Charbonnier, Françoise;
Houivet, Estelle;
Tinat, Julie;
Buisine, Marie-Pierre;
Caron, Olivier;
Benichou, Jacques;
Baert-Desurmont, Stéphanie;
Frebourg, Thierry

Publication type:

Article

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 844, doi. 10.1038/ejhg.2011.47

By:

Kamamoto, Munefumi;
Machida, Junichiro;
Yamaguchi, Seishi;
Kimura, Masashi;
Ono, Takao;
Jezewski, Peter A.;
Higashi, Yujiro;
Nakayama, Atsuo;
Shimozato, Kazuo;
Tokita, Yoshihito

Publication type:

Article

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 851, doi. 10.1038/ejhg.2011.52

By:

Chograni, Manèl;
Rejeb, Imen;
Jemaa, Lamia Ben;
Châabouni, Myriam;
Bouhamed, Habiba Chaabouni

Publication type:

Article

The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 882, doi. 10.1038/ejhg.2011.40

By:

Montesanto, Alberto;
Latorre, Valeria;
Giordano, Marco;
Martino, Cinzia;
Domma, Filippo;
Passarino, Giuseppe

Publication type:

Article

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 875, doi. 10.1038/ejhg.2011.42

By:

Laine, C. M.;
Chung, B. D.;
Susic, M.;
Prescott, T.;
Semler, O.;
Fiskerstrand, T.;
D'Eufemia, P.;
Castori, M.;
Pekkinen, M.;
Sochett, E.;
Cole, W. G.;
Netzer, C.;
Mäkitie, O.

Publication type:

Article

Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 908, doi. 10.1038/ejhg.2011.50

By:

Korotkova, Marina;
Daha, Nina A.;
Seddighzadeh, Maria;
Ding, Bo;
Catrina, Anca I.;
Lindblad, Staffan;
Huizinga, Tom W. J.;
Toes, Rene E. M.;
Alfredsson, Lars;
Klareskog, Lars;
Jakobsson, Per-Johan;
Padyukov, Leonid

Publication type:

Article