Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 12

Results: 18

Confirmation of association between multiple sclerosis and CYP27B1.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1349, doi. 10.1038/ejhg.2010.113

By:

Sundqvist, Emilie;
Bäärnhielm, Maria;
Alfredsson, Lars;
Hillert, Jan;
Olsson, Tomas;
Kockum, Ingrid

Publication type:

Article

Genetic variability at the PARK16 locus.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125

By:

Tucci, Arianna;
Nalls, Mike A.;
Houlden, Henry;
Revesz, Tamas;
Singleton, Andrew B.;
Wood, Nicholas W.;
Hardy, John;
Paisán-Ruiz, Coro

Publication type:

Article

A standardized framework for the validation and verification of clinical molecular genetic tests.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101

By:

Mattocks, Christopher J.;
Morris, Michael A.;
Matthijs, Gert;
Swinnen, Elfriede;
Corveleyn, Anniek;
Dequeker, Els;
Müller, Clemens R.;
Pratt, Victoria;
Wallace, Andrew

Publication type:

Article

NordicDB: a Nordic pool and portal for genome-wide control data.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1322, doi. 10.1038/ejhg.2010.112

By:

Leu, Monica;
Humphreys, Keith;
Surakka, Ida;
Rehnberg, Emil;
Juha Muilu;
Rosenström, Päivi;
Almgren, Peter;
Jääskeläinen, Juha;
Lifton, Richard P.;
Kyvik, Kirsten Ohm;
Kaprio, Jaakko;
Pedersen, Nancy L.;
Palotie, Aarno;
Hall, Per;
Grönberg, Henrik;
Groop, Leif;
Peltonen, Leena;
Palmgren, Juni;
Ripatti, Samuli

Publication type:

Article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116

By:

Kantaputra, Piranit N.;
Klopocki, Eva;
Hennig, Bianca P.;
Praphanphoj, Verayuth;
Le Caignec, Cédric;
Isidor, Bertrand;
Kwee, Mei L.;
Shears, Deborah J.;
Mundlos, Stefan

Publication type:

Article

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115

By:

Bonaglia, Maria C.;
Marelli, Susan;
Novara, Francesca;
Commodaro, Simona;
Borgatti, Renato;
Minardo, Grazia;
Memo, Luigi;
Mangold, Elisabeth;
Beri, Silvana;
Zucca, Claudio;
Brambilla, Daniele;
Molteni, Massimo;
Giorda, Roberto;
Weber, Ruthild G.;
Zuffardi, Orsetta

Publication type:

Article

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118

By:

García-Villoria, Judit;
Gort, Laura;
Madrigal, Irene;
Fons, Carme;
Fernández, Cristina;
Navarro-Sastre, Aleix;
Milà, Montserrat;
Briones, Paz;
García-Cazorla, Angeles;
Campistol, Jaume;
Ribes, Antonia

Publication type:

Article

Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1289, doi. 10.1038/ejhg.2010.114

By:

Dancyger, Caroline;
Smith, Jonathan A.;
Jacobs, Chris;
Wallace, Melissa;
Michie, Susan

Publication type:

Article

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1360, doi. 10.1038/ejhg.2010.126

By:

Cacciagli, Pierre;
Haddad, Marie-Reine;
Mignon-Ravix, Cécile;
El-Waly, Bilal;
Moncla, Anne;
Missirian, Chantal;
Chabrol, Brigitte;
Villard, Laurent

Publication type:

Article

FGF21 signalling pathway and metabolic traits - genetic association analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1344, doi. 10.1038/ejhg.2010.130

By:

Kaess, Bernhard M.;
Barnes, Timothy A.;
Stark, Klaus;
Charchar, Fadi J.;
Waterworth, Dawn;
Kijoung Song;
Wang, William Y. S.;
Vollenweider, Peter;
Waeber, Gerard;
Mooser, Vincent;
Zukowska-Szczechowska, Ewa;
Samani, Nilesh J.;
Hengstenberg, Christian;
Tomaszewski, Maciej

Publication type:

Article

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1271, doi. 10.1038/ejhg.2010.129

By:

Borry, P.

Publication type:

Article

FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1339, doi. 10.1038/ejhg.2010.131

By:

Scott, Robert A.;
Bailey, Mark E. S.;
Moran, Colin N.;
Wilson, Richard H.;
Fuku, Noriyuki;
Tanaka, Masashi;
Tsiokanos, Athanasios;
Jamurtas, Athanasios Z.;
Grammatikaki, Evangelia;
Moschonis, George;
Manios, Yannis;
Pitsiladis, Yannis P.

Publication type:

Article

Reply to Dlouha et al.

Published in:

2010

By:

Tönjes, Anke;
Kovacs, Peter;
Elliott, Katherine;
Zeggini, Eleftheria;
McCarthy, Mark I.;
Stumvoll, Michael

Publication type:

Letter

Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1327, doi. 10.1038/ejhg.2010.111

By:

Reisinger, Ellen;
Meintrup, David;
Oliver, Dominik;
Fakler, Bernd

Publication type:

Article

The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1296, doi. 10.1038/ejhg.2010.119

By:

Ashida, Sato;
Koehly, Laura M.;
Roberts, J. Scott;
Chen, Clara A.;
Hiraki, Susan;
Green, Robert C.

Publication type:

Article

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1315, doi. 10.1038/ejhg.2010.105

By:

Meienberg, Janine;
Rohrbach, Marianne;
Neuenschwander, Stefan;
Spanaus, Katharina;
Giunta, Cecilia;
Alonso, Sira;
Arnold, Eliane;
Henggeler, Caroline;
Regenass, Stephan;
Patrignani, Andrea;
Azzarello-Burri, Silvia;
Steiner, Bernhard;
Nygren, Anders O. H.;
Carrel, Thierry;
Steinmann, Beat;
Mátyás, Gábor

Publication type:

Article

Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population.

Published in:

2010

By:

Dlouha, Dana;
Adamkova, Vera;
Lanska, Vera;
Hubacek, Jaroslav A

Publication type:

Letter

Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1333, doi. 10.1038/ejhg.2010.117

By:

Boccardi, Virginia;
Ambrosino, Immacolata;
Papa, Michela;
Fiore, Daniela;
Rizzo, Maria Rosaria;
Paolisso, Giuseppe;
Barbieri, Michelangela

Publication type:

Article