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
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
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
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
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
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
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