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

Results: 18

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
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
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
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
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
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
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
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
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
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
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
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
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