Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 12

Results: 14

CGene: an R package for implementation of causal genetic analyses.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1292, doi. 10.1038/ejhg.2011.122

By:

Lipman, Peter J;
Lange, Christoph

Publication type:

Article

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1218, doi. 10.1038/ejhg.2011.128

By:

Barca-Tierno, Verónica;
Aza-Carmona, Miriam;
Barroso, Eva;
Heine-Suner, Damia;
Azmanov, Dimitar;
Rosell, Jordi;
Ezquieta, Begoña;
Montané, Lucia Sentchordi;
Vendrell, Teresa;
Cruz, Jaime;
Santos, Fernando;
Rodríguez, José Ignacio;
Pozo, Jesús;
Argente, Jesús;
Kalaydjieva, Luba;
Gracía, Ricardo;
Campos-Barros, Ángel;
Benito-Sanz, Sara;
Heath, Karen E

Publication type:

Article

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1289, doi. 10.1038/ejhg.2011.130

By:

Berry, Vanita;
Ionides, Alexander C W;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1264, doi. 10.1038/ejhg.2011.112

By:

Liu, Xudong;
Malenfant, Patrick;
Reesor, Chelsea;
Lee, Alana;
Hudson, Melissa L;
Harvard, Chansonette;
Qiao, Ying;
Persico, Antonio M;
Cohen, Ira L;
Chudley, Albert E;
Forster-Gibson, Cynthia;
Rajcan-Separovic, Evica;
Lewis, ME Suzanne;
Holden, Jeanette JA

Publication type:

Article

iPS cells to model CDKL5-related disorders.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1246, doi. 10.1038/ejhg.2011.131

By:

Amenduni, Mariangela;
De Filippis, Roberta;
Cheung, Aaron Y L;
Disciglio, Vittoria;
Epistolato, Maria Carmela;
Ariani, Francesca;
Mari, Francesca;
Mencarelli, Maria Antonietta;
Hayek, Youssef;
Renieri, Alessandra;
Ellis, James;
Meloni, Ilaria

Publication type:

Article

Maternally inherited mitochondrial DNA disease in consanguineous families.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124

By:

Alston, Charlotte L;
He, Langping;
Morris, Andrew A;
Hughes, Imelda;
Goede, Christian de;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W

Publication type:

Article

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1213, doi. 10.1038/ejhg.2011.123

By:

Facio, Flavia M;
Brooks, Stephanie;
Loewenstein, Johanna;
Green, Susannah;
Biesecker, Leslie G;
Biesecker, Barbara B

Publication type:

Article

Renal coloboma syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1207, doi. 10.1038/ejhg.2011.102

By:

Schimmenti, Lisa A

Publication type:

Article

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1281, doi. 10.1038/ejhg.2011.129

By:

Labenski, Heike;
Hedtfeld, Silke;
Becker, Tim;
Tümmler, Burkhard;
Stanke, Frauke

Publication type:

Article

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1230, doi. 10.1038/ejhg.2011.119

By:

Srebniak, Malgorzata;
Boter, Marjan;
Oudesluijs, Grétel;
Joosten, Marieke;
Govaerts, Lutgarde;
Van Opstal, Diane;
Galjaard, Robert-Jan H

Publication type:

Article

Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1271, doi. 10.1038/ejhg.2011.115

By:

Wineinger, Nathan E;
Pajewski, Nicholas M;
Kennedy, Richard E;
Wojczynski, Mary K;
Vaughan, Laura K;
Hunt, Steven C;
Gu, C Charles;
Rao, Dabeeru C;
Lorier, Rachel;
Broeckel, Ulrich;
Arnett, Donna K;
Tiwari, Hemant K

Publication type:

Article

The potential influence of KIR cluster profiles on disease patterns of Canadian Aboriginals and other indigenous peoples of the Americas.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1276, doi. 10.1038/ejhg.2011.114

By:

Rempel, Julia D;
Hawkins, Kim;
Lande, Erin;
Nickerson, Peter

Publication type:

Article

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121

By:

Paciorkowski, Alex R;
Thio, Liu Lin;
Rosenfeld, Jill A;
Gajecka, Marzena;
Gurnett, Christina A;
Kulkarni, Shashikant;
Chung, Wendy K;
Marsh, Eric D;
Gentile, Mattia;
Reggin, James D;
Wheless, James W;
Balasubramanian, Sandhya;
Kumar, Ravinesh;
Christian, Susan L;
Marini, Carla;
Guerrini, Renzo;
Maltsev, Natalia;
Shaffer, Lisa G;
Dobyns, William B

Publication type:

Article

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1256, doi. 10.1038/ejhg.2011.133

By:

Hebrard, Maxime;
Manes, Gaël;
Bocquet, Béatrice;
Meunier, Isabelle;
Coustes-Chazalette, Delphine;
Hérald, Emilie;
Sénéchal, Audrey;
Bolland-Augé, Anne;
Zelenika, Diana;
Hamel, Christian P

Publication type:

Article