Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 7

Results: 20

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 762, doi. 10.1038/ejhg.2012.254

By:

Shaheen, Ranad;
Faqeih, Eissa;
Alshammari, Muneera J;
Swaid, Abdulrahman;
Al-Gazali, Lihadh;
Mardawi, Elham;
Ansari, Shinu;
Sogaty, Sameera;
Seidahmed, Mohammed Z;
AlMotairi, Muhammed I;
Farra, Chantal;
Kurdi, Wesam;
Al-Rasheed, Shatha;
Alkuraya, Fowzan S

Publication type:

Article

Clinical Utility Gene Card for: incontinentia pigmenti.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.227

By:

Fusco, Francesca;
Pescatore, Alessandra;
Steffann, Julie;
Royer, Ghislaine;
Bonnefont, Jean-Paul;
Ursini, Matilde Valeria

Publication type:

Article

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 784, doi. 10.1038/ejhg.2012.252

By:

Isidor, Bertrand;
Bourdeaut, Franck;
Lafon, Delfine;
Plessis, Ghislaine;
Lacaze, Elodie;
Kannengiesser, Caroline;
Rossignol, Sylvie;
Pichon, Olivier;
Briand, Annaig;
Martin-Coignard, Dominique;
Piccione, Maria;
David, Albert;
Delattre, Olivier;
Jeanpierre, Cécile;
Sévenet, Nicolas;
Le Caignec, Cédric

Publication type:

Article

Spanish regulatory approach for Biobanking.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 708, doi. 10.1038/ejhg.2012.249

By:

Arias-Diaz, Javier;
Martín-Arribas, María C;
García del Pozo, Javier;
Alonso, Carlos

Publication type:

Article

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251

By:

El Chehadeh-Djebbar, Salima;
Blair, Edward;
Holder-Espinasse, Muriel;
Moncla, Anne;
Frances, Anne-Marie;
Rio, Marlène;
Debray, François-Guillaume;
Rump, Patrick;
Masurel-Paulet, Alice;
Gigot, Nadège;
Callier, Patrick;
Duplomb, Laurence;
Aral, Bernard;
Huet, Frédéric;
Thauvin-Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 774, doi. 10.1038/ejhg.2012.266

By:

Cavalieri, Simona;
Pozzi, Elisa;
Gatti, Richard A;
Brusco, Alfredo

Publication type:

Article

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 725, doi. 10.1038/ejhg.2012.253

By:

Fiorentino, Francesco;
Napoletano, Stefania;
Caiazzo, Fiorina;
Sessa, Mariateresa;
Bono, Sara;
Spizzichino, Letizia;
Gordon, Anthony;
Nuccitelli, Andrea;
Rizzo, Giuseppe;
Baldi, Marina

Publication type:

Article

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 703, doi. 10.1038/ejhg.2012.238

By:

Fears, Robin;
ter Meulen, Volker

Publication type:

Article

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240

By:

Villavicencio-Lorini, Pablo;
Klopocki, Eva;
Trimborn, Marc;
Koll, Randi;
Mundlos, Stefan;
Horn, Denise

Publication type:

Article

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259

By:

Gogiel, Magdalena;
Begemann, Matthias;
Spengler, Sabrina;
Soellner, Lukas;
Göretzlehner, Ulf;
Eggermann, Thomas;
Strobl-Wildemann, Gertrud

Publication type:

Article

Non-invasive prenatal testing for single gene disorders: exploring the ethics.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 713, doi. 10.1038/ejhg.2012.250

By:

Deans, Zuzana;
Hill, Melissa;
Chitty, Lyn S;
Lewis, Celine

Publication type:

Article

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 757, doi. 10.1038/ejhg.2012.235

By:

Beri, Silvana;
Bonaglia, Maria Clara;
Giorda, Roberto

Publication type:

Article

A focus group study on breast cancer risk presentation: one format does not fit all.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 719, doi. 10.1038/ejhg.2012.248

By:

Dorval, Michel;
Bouchard, Karine;
Chiquette, Jocelyne;
Glendon, Gord;
Maugard, Christine M;
Dubuisson, Wilhelm;
Panchal, Seema;
Simard, Jacques

Publication type:

Article

A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 779, doi. 10.1038/ejhg.2012.242

By:

Gaunt, Tom R;
Lowe, Gordon DO;
Lawlor, Debbie A;
Casas, Juan-Pablo;
Day, Ian NM

Publication type:

Article

Clinical Utility Gene Card for: campomelic dysplasia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.228

By:

Scherer, Gerd;
Zabel, Bernhard;
Nishimura, Gen

Publication type:

Article

Analysis of the effects of rare variants on splicing identifies alterations in GABA<sub>A</sub> receptor genes in autism spectrum disorder individuals.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 749, doi. 10.1038/ejhg.2012.243

By:

Piton, Amélie;
Jouan, Loubna;
Rochefort, Daniel;
Dobrzeniecka, Sylvia;
Lachapelle, Karine;
Dion, Patrick A;
Gauthier, Julie;
Rouleau, Guy A

Publication type:

Article

Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 701, doi. 10.1038/ejhg.2012.264

By:

Evans, D Gareth R;
Wallace, Andrew;
Newman, William

Publication type:

Article

Clinical utility gene card for: Rothmund-Thomson syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.260

By:

Larizza, Lidia;
Roversi, Gaia;
Verloes, Alain

Publication type:

Article

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 769, doi. 10.1038/ejhg.2012.261

By:

Castellanos, Elisabeth;
Rosas, Imma;
Solanes, Ares;
Bielsa, Isabel;
Lázaro, Conxi;
Carrato, Cristina;
Hostalot, Cristina;
Prades, Pepe;
Roca-Ribas, Francesc;
Blanco, Ignacio;
Serra, Eduard

Publication type:

Article

Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 731, doi. 10.1038/ejhg.2012.239

By:

Yu, Lihua;
Zhou, Huayong;
Hu, Fayun;
Xu, Yanming

Publication type:

Article