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Volume 18; Issue 12

European Journal of Human Genetics

Volume 18; Issue 12

1

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 1012 KB

english, 2010

2

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

Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 550 KB

english, 2010

3

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 426 KB

english, 2010

4

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

Rehnberg, Emil, Muilu, Juha, Rosenström, Päivi, Almgren, Peter, Jääskeläinen, Juha, Lifton, Richard P, Kyvik, Kirsten Ohm, Leu, Monica, Humphreys, Keith, Surakka, Ida

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 365 KB

english, 2010

5

Confirmation of association between multiple sclerosis and CYP27B1

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 250 KB

english, 2010

6

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 296 KB

english, 2010

7

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

Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 554 KB

english, 2010

8

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 305 KB

english, 2010

9

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 317 KB

english, 2010

10

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 263 KB

english, 2010

11

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 278 KB

english, 2010

12

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 78 KB

english, 2010

13

Reply to Dlouha et al

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 96 KB

english, 2010

14

Genetic variability at the PARK16 locus

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 200 KB

english, 2010

15

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 304 KB

english, 2010

16

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 146 KB

english, 2010

17

FGF21 signalling pathway and metabolic traits – genetic association analysis

Kaess, Bernhard M, Barnes, Timothy A, Stark, Klaus, Charchar, Fadi J, Waterworth, Dawn, Song, Kijoung, Wang, William Y S, Vollenweider, Peter, Waeber, Gerard, Mooser, Vincent

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 446 KB

english, 2010

18

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

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

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 268 KB

english, 2010