Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 3

Results: 22

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

Published in:

2012

By:

Braunholz, Diana;
Hullings, Melanie;
Gil-Rodríguez, María Concepcion;
Fincher, Christopher T;
Mallozzi, Mark B;
Loy, Elizabeth;
Albrecht, Melanie;
Kaur, Maninder;
Limon, Janusz;
Rampuria, Abhinav;
Clark, Dinah;
Kline, Antonie;
Dalski, Andreas;
Eckhold, Juliane;
Tzschach, Andreas;
Hennekam, Raoul;
Gillessen-Kaesbach, Gabriele;
Wierzba, Jolanta;
Krantz, Ian D;
Deardorff, Matthew A

Publication type:

Correction Notice

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 298, doi. 10.1038/ejhg.2011.194

By:

Veenma, Danielle;
Brosens, Erwin;
de Jong, Elisabeth;
van de Ven, Cees;
Meeussen, Connie;
Cohen-Overbeek, Titia;
Boter, Marjan;
Eussen, Hubertus;
Douben, Hannie;
Tibboel, Dick;
de Klein, Annelies

Publication type:

Article

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 263, doi. 10.1038/ejhg.2011.189

By:

Glaudemans, Bob;
Yntema, Helger G;
San-Cristobal, Pedro;
Schoots, Jeroen;
Pfundt, Rolph;
Kamsteeg, Erik-J;
Bindels, René J;
Knoers, Nine VAM;
Hoenderop, Joost G;
Hoefsloot, Lies H

Publication type:

Article

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187

By:

Kim, Soo-Jeong;
Miller, Jennifer L;
Kuipers, Paul J;
German, Jennifer Ruth;
Beaudet, Arthur L;
Sahoo, Trilochan;
Driscoll, Daniel J

Publication type:

Article

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 341, doi. 10.1038/ejhg.2011.201

By:

Lopez, Lorna M;
Harris, Sarah E;
Luciano, Michelle;
Liewald, Dave;
Davies, Gail;
Gow, Alan J;
Tenesa, Albert;
Payton, Antony;
Ke, Xiayi;
Whalley, Lawrence J;
Fox, Helen;
Haggerty, Paul;
Ollier, William;
Pickles, Andrew;
Porteous, David J;
Horan, Michael A;
Pendleton, Neil;
Starr, John M;
Deary, Ian J

Publication type:

Article

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 271, doi. 10.1038/ejhg.2011.175

By:

Braunholz, Diana;
Hullings, Melanie;
Gil-Rodríguez, María Concepcion;
Fincher, Christopher T;
Mallozzi, Mark B;
Loy, Elizabeth;
Albrecht, Melanie;
Kaur, Maninder;
Limon, Janusz;
Rampuria, Abhinav;
Clark, Dinah;
Kline, Antonie;
Dalski, Andreas;
Eckhold, Juliane;
Tzschach, Andreas;
Hennekam, Raoul;
Gillessen-Kaesbach, Gabriele;
Wierzba, Jolanta;
Krantz, Ian D;
Deardorff, Matthew A

Publication type:

Article

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 291, doi. 10.1038/ejhg.2011.195

By:

Bourdeaut, Franck;
Ferrand, Sandrine;
Brugières, Laurence;
Hilbert, Marjorie;
Ribeiro, Agnès;
Lacroix, Ludovic;
Bénard, Jean;
Combaret, Valérie;
Michon, Jean;
Valteau-Couanet, Dominique;
Isidor, Bertrand;
Rialland, Xavier;
Poirée, Maryline;
Defachelles, Anne-Sophie;
Peuchmaur, Michel;
Schleiermacher, Gudrun;
Pierron, Gaëlle;
Gauthier-Villars, Marion;
Janoueix-Lerosey, Isabelle;
Delattre, Olivier

Publication type:

Article

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 348, doi. 10.1038/ejhg.2011.204

By:

White, Stefan;
Hewitt, Jacqueline;
Turbitt, Erin;
van der Zwan, Yvonne;
Hersmus, Remko;
Drop, Stenvert;
Koopman, Peter;
Harley, Vincent;
Cools, Martine;
Looijenga, Leendert;
Sinclair, Andrew

Publication type:

Article

Researchers' opinions towards the communication of results of biobank research: a survey study.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 258, doi. 10.1038/ejhg.2011.216

By:

Meulenkamp, Tineke M;
Gevers, Sjef JK;
Bovenberg, Jasper A;
Smets, Ellen MA

Publication type:

Article

The novel mitochondrial tRNA<sup>Asn</sup> gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 357, doi. 10.1038/ejhg.2011.238

By:

Ronchi, Dario;
Sciacco, Monica;
Bordoni, Andreina;
Raimondi, Monika;
Ripolone, Michela;
Fassone, Elisa;
Di Fonzo, Alessio;
Rizzuti, Mafalda;
Ciscato, Patrizia;
Cosi, Alessandra;
Servida, Maura;
Moggio, Maurizio;
Corti, Stefania;
Bresolin, Nereo;
Comi, Giacomo P

Publication type:

Article

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 305, doi. 10.1038/ejhg.2011.196

By:

Jacquemin, Virginie;
Rieunier, Guillaume;
Jacob, Sandrine;
Bellanger, Dorine;
d'Enghien, Catherine Dubois;
Laugé, Anthony;
Stoppa-Lyonnet, Dominique;
Stern, Marc-Henri

Publication type:

Article

Clinical utility gene card for: acrodermatitis enteropathica.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.227

By:

Küry, Sébastien;
Kharfi, Monia;
Schmitt, Sébastien;
Bézieau, Stéphane

Publication type:

Article

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 326, doi. 10.1038/ejhg.2011.185

By:

Forstbauer, Lina M;
Brockschmidt, Felix F;
Moskvina, Valentina;
Herold, Christine;
Redler, Silke;
Herzog, Alexandra;
Hillmer, Axel M;
Meesters, Christian;
Heilmann, Stefanie;
Albert, Florian;
Alblas, Margrieta;
Hanneken, Sandra;
Eigelshoven, Sibylle;
Giehl, Kathrin A;
Jagielska, Dagny;
Blume-Peytavi, Ulrike;
Bartels, Natalie Garcia;
Kuhn, Jennifer;
Hennies, Hans Christian;
Goebeler, Matthias

Publication type:

Article

Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 361, doi. 10.1038/ejhg.2011.215

By:

Mengel-From, Jonas;
Thinggaard, Mikael;
Christiansen, Lene;
Vaupel, James W;
Ørstavik, Karen Helene;
Christensen, Kaare

Publication type:

Article

Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 313, doi. 10.1038/ejhg.2011.192

By:

Herrera, Kristian J;
Lowery, Robert K;
Hadden, Laura;
Calderon, Silvia;
Chiou, Carolina;
Yepiskoposyan, Levon;
Regueiro, Maria;
Underhill, Peter A;
Herrera, Rene J

Publication type:

Article

Clinical utility gene card for: Adrenoleukodystrophy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.193

By:

Krasemann, Ernst;
Kemp, Stephan;
Gal, Andreas

Publication type:

Article

Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 321, doi. 10.1038/ejhg.2011.197

By:

Babron, Marie-Claude;
Perdry, Hervé;
Handel, Adam E;
Ramagopalan, Sreeram V;
Damotte, Vincent;
Fontaine, Bertrand;
Müller-Myhsok, Bertram;
Ebers, George C;
Clerget-Darpoux, Françoise

Publication type:

Article

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217

By:

Delphin, Nathalie;
Hanein, Sylvain;
Taie, Lucas Fares;
Zanlonghi, Xavier;
Bonneau, Dominique;
Moisan, Jean-Paul;
Boyle, Christine;
Nitschke, Patrick;
Pruvost, Solenn;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Roche, Olivier;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

Genome-wide association study of coronary artery disease in the Japanese.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 333, doi. 10.1038/ejhg.2011.184

By:

Takeuchi, Fumihiko;
Yokota, Mitsuhiro;
Yamamoto, Ken;
Nakashima, Eitaro;
Katsuya, Tomohiro;
Asano, Hiroyuki;
Isono, Masato;
Nabika, Toru;
Sugiyama, Takao;
Fujioka, Akihiro;
Awata, Nobuhisa;
Ohnaka, Keizo;
Nakatochi, Masahiro;
Kitajima, Hidetoshi;
Rakugi, Hiromi;
Nakamura, Jiro;
Ohkubo, Takayoshi;
Imai, Yutaka;
Shimamoto, Kazuaki;
Yamori, Yukio

Publication type:

Article

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 277, doi. 10.1038/ejhg.2011.186

By:

Pasmant, Eric;
Goussard, Philippe;
Baranes, Laetitia;
Laurendeau, Ingrid;
Quentin, Samuel;
Ponsot, Philippe;
Consigny, Yann;
Farges, Olivier;
Condat, Bertrand;
Vidaud, Dominique;
Vidaud, Michel;
Chen, Jian-Min;
Parfait, Béatrice

Publication type:

Article

Clinical utility gene card for: Trimethylaminuria.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.214

By:

Shephard, Elizabeth A;
Treacy, Eileen P;
Phillips, Ian R

Publication type:

Article

Alagille syndrome: pathogenesis, diagnosis and management.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 251, doi. 10.1038/ejhg.2011.181

By:

Turnpenny, Peter D;
Ellard, Sian

Publication type:

Article