Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 8

Results: 19

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA<sup>Trp</sup> gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 871, doi. 10.1038/ejhg.2012.272

By:

Barić, Ivo;
Fumić, Ksenija;
Petković Ramadža, Danijela;
Sperl, Wolfgang;
Zimmermann, Franz A;
Muačević-Katanec, Diana;
Mitrović, Zoran;
Pažanin, Leo;
Cvitanović Šojat, Ljerka;
Kekez, Tihomir;
Reiner, Željko;
Mayr, Johannes A

Publication type:

Article

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257

By:

Iqbal, Zafar;
Shahzad, Mohsin;
Vissers, Lisenka E L M;
van Scherpenzeel, Monique;
Gilissen, Christian;
Razzaq, Attia;
Zahoor, Muhammad Yasir;
Khan, Shaheen N;
Kleefstra, Tjitske;
Veltman, Joris A;
de Brouwer, Arjan P M;
Lefeber, Dirk J;
van Bokhoven, Hans;
Riazuddin, Sheikh

Publication type:

Article

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 1, doi. 10.1038/ejhg.2012.255

By:

Witsch-Baumgartner, Martina;
Sawyer, Hilary;
Haas, Dorothea

Publication type:

Article

Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 793, doi. 10.1038/ejhg.2012.271

By:

Henneman, Lidewij;
Vermeulen, Eric;
van El, Carla G;
Claassen, Liesbeth;
Timmermans, Danielle R M;
Cornel, Martina C

Publication type:

Article

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 876, doi. 10.1038/ejhg.2012.263

By:

Amin, Najaf;
Hottenga, Jouke-Jan;
Hansell, Narelle K;
Janssens, A Cecile JW;
de Moor, Marleen HM;
Madden, Pamela AF;
Zorkoltseva, Irina V;
Penninx, Brenda W;
Terracciano, Antonio;
Uda, Manuela;
Tanaka, Toshiko;
Esko, Tonu;
Realo, Anu;
Ferrucci, Luigi;
Luciano, Michelle;
Davies, Gail;
Metspalu, Andres;
Abecasis, Goncalo R;
Deary, Ian J;
Raikkonen, Katri

Publication type:

Article

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 831, doi. 10.1038/ejhg.2012.246

By:

Zhou, Xiaolong;
Khan, Sikandar G;
Tamura, Deborah;
Ueda, Takahiro;
Boyle, Jennifer;
Compe, Emmanuel;
Egly, Jean-Marc;
DiGiovanna, John J;
Kraemer, Kenneth H

Publication type:

Article

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 800, doi. 10.1038/ejhg.2012.244

By:

Deans, Zandra;
Fiorentino, Francesco;
Biricik, Anil;
Traeger-Synodinos, Joanne;
Moutou, Céline;
De Rycke, Martine;
Renwick, Pamela;
SenGupta, Sioban;
Goossens, Veerle;
Harton, Gary

Publication type:

Article

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269

By:

Mercier, Sandra;
Toutain, Annick;
Toussaint, Aurélie;
Raynaud, Martine;
de Barace, Claire;
Marcorelles, Pascale;
Pasquier, Laurent;
Blayau, Martine;
Espil, Caroline;
Parent, Philippe;
Journel, Hubert;
Lazaro, Leila;
Andoni Urtizberea, Jon;
Moerman, Alexandre;
Faivre, Laurence;
Eymard, Bruno;
Maincent, Kim;
Gherardi, Romain;
Chaigne, Denys;
Ben Yaou, Rabah

Publication type:

Article

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 850, doi. 10.1038/ejhg.2012.245

By:

Moya, Pablo R;
Dodman, Nicholas H;
Timpano, Kiara R;
Rubenstein, Liza M;
Rana, Zaker;
Fried, Ruby L;
Reichardt, Louis F;
Heiman, Gary A;
Tischfield, Jay A;
King, Robert A;
Galdzicka, Marzena;
Ginns, Edward I;
Wendland, Jens R

Publication type:

Article

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74

By:

Mercier, Sandra;
Toutain, Annick;
Toussaint, Aurélie;
Raynaud, Martine;
de Barace, Claire;
Marcorelles, Pascale;
Pasquier, Laurent;
Blayau, Martine;
Pénisson-Besnier, Isabelle;
Romero, Norma;
Espil, Caroline;
Parent, Philippe;
Journel, Hubert;
Lazaro, Leila;
Andoni Urtizberea, Jon;
Moerman, Alexandre;
Faivre, Laurence;
Eymard, Bruno;
Maincent, Kim;
Gherardi, Romain

Publication type:

Article

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC).

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 1, doi. 10.1038/ejhg.2012.247

By:

Oliveira, Carla;
Seruca, Raquel;
Hoogerbrugge, Nicoline;
Ligtenberg, Marjolijn;
Carneiro, Fátima

Publication type:

Article

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 864, doi. 10.1038/ejhg.2012.270

By:

Feliubadaló, Lídia;
Lopez-Doriga, Adriana;
Castellsagué, Ester;
del Valle, Jesús;
Menéndez, Mireia;
Tornero, Eva;
Montes, Eva;
Cuesta, Raquel;
Gómez, Carolina;
Campos, Olga;
Pineda, Marta;
González, Sara;
Moreno, Victor;
Brunet, Joan;
Blanco, Ignacio;
Serra, Eduard;
Capellá, Gabriel;
Lázaro, Conxi

Publication type:

Article

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 887, doi. 10.1038/ejhg.2012.267

By:

Rump, Andreas;
Hildebrand, Laura;
Tzschach, Andreas;
Ullmann, Reinhard;
Schrock, Evelin;
Mitter, Diana

Publication type:

Article

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 883, doi. 10.1038/ejhg.2012.268

By:

de Garibay, Gorka Ruiz;
Díaz, Avellaneda;
Gaviña, Belén;
Romero, Atocha;
Garre, Pilar;
Vega, Ana;
Blanco, Ana;
Tosar, Alicia;
Díez, Orland;
Pérez-Segura, Pedro;
Díaz-Rubio, Eduardo;
Caldés, Trinidad;
de la Hoya, Miguel

Publication type:

Article

Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 824, doi. 10.1038/ejhg.2012.273

By:

Danza, K;
Pilato, B;
Lacalamita, R;
Addati, T;
Giotta, F;
Bruno, A;
Paradiso, A;
Tommasi, S

Publication type:

Article

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256

By:

Janssen, Mirian C H;
van Engelen, Baziel;
Kapusta, Livia;
Lammens, Martin;
van Dijk, Martin;
Fischer, Judith;
van der Graaf, Marinette;
Wevers, Ron A;
Fahrleitner, Manuela;
Zimmermann, Robert;
Morava, Eva

Publication type:

Article

Frequency and characterization of DNA methylation defects in children born SGA.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 838, doi. 10.1038/ejhg.2012.262

By:

Bens, Susanne;
Haake, Andrea;
Richter, Julia;
Leohold, Judith;
Kolarova, Julia;
Vater, Inga;
Riepe, Felix G;
Buiting, Karin;
Eggermann, Thomas;
Gillessen-Kaesbach, Gabriele;
Platzer, Konrad;
Prawitt, Dirk;
Caliebe, Almuth;
Siebert, Reiner

Publication type:

Article

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11

By:

Janssen, Mirian C H;
van Engelen, Baziel;
Kapusta, Livia;
Lammens, Martin;
van Dijk, Martin;
Fischer, Judith;
van der Graaf, Marinette;
Wevers, Ron A;
Fahrleitner, Manuela;
Zimmermann, Robert;
Morava, Eva

Publication type:

Article

Craniofacial characteristics of fragile X syndrome in mouse and man.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 816, doi. 10.1038/ejhg.2012.265

By:

Heulens, Inge;
Suttie, Michael;
Postnov, Andrei;
De Clerck, Nora;
Perrotta, Concetta S;
Mattina, Teresa;
Faravelli, Francesca;
Forzano, Francesca;
Frank Kooy, R;
Hammond, Peter

Publication type:

Article