Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 3

Results: 20

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 324, doi. 10.1038/ejhg.2012.167

By:

González, Miguel;
Gomes, Verónica;
López-Parra, Ana Maria;
Amorim, António;
Carracedo, Ángel;
Sánchez-Diz, Paula;
Arroyo-Pardo, Eduardo;
Gusmão, Leonor

Publication type:

Article

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172

By:

Shanks, Morag E;
Downes, Susan M;
Copley, Richard R;
Lise, Stefano;
Broxholme, John;
Hudspith, Karl AZ;
Kwasniewska, Alexandra;
Davies, Wayne IL;
Hankins, Mark W;
Packham, Emily R;
Clouston, Penny;
Seller, Anneke;
Wilkie, Andrew OM;
Taylor, Jenny C;
Ragoussis, Jiannis;
Németh, Andrea H

Publication type:

Article

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 310, doi. 10.1038/ejhg.2012.175

By:

Boccuto, Luigi;
Lauri, Maria;
Sarasua, Sara M;
Skinner, Cindy D;
Buccella, Daniela;
Dwivedi, Alka;
Orteschi, Daniela;
Collins, Julianne S;
Zollino, Marcella;
Visconti, Paola;
DuPont, Barb;
Tiziano, Danilo;
Schroer, Richard J;
Neri, Giovanni;
Stevenson, Roger E;
Gurrieri, Fiorella;
Schwartz, Charles E

Publication type:

Article

FTO levels affect RNA modification and the transcriptome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 317, doi. 10.1038/ejhg.2012.168

By:

Berulava, Tea;
Ziehe, Matthias;
Klein-Hitpass, Ludger;
Mladenov, Emil;
Thomale, Jürgen;
Rüther, Ulrich;
Horsthemke, Bernhard

Publication type:

Article

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156

By:

Fehr, Stephanie;
Wilson, Meredith;
Downs, Jenny;
Williams, Simon;
Murgia, Alessandra;
Sartori, Stefano;
Vecchi, Marilena;
Ho, Gladys;
Polli, Roberta;
Psoni, Stavroula;
Bao, Xinhua;
de Klerk, Nick;
Leonard, Helen;
Christodoulou, John

Publication type:

Article

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 338, doi. 10.1038/ejhg.2012.158

By:

Kamenarova, Kunka;
Cherninkova, Sylvia;
Romero Durán, Margarita;
Prescott, DeQuincy;
Valdés Sánchez, Maria Lourdes;
Mitev, Vanio;
Kremensky, Ivo;
Kaneva, Radka;
Bhattacharya, Shomi S;
Tournev, Ivailo;
Chakarova, Christina

Publication type:

Article

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 281, doi. 10.1038/ejhg.2012.170

By:

Emre Onat, Onur;
Gulsuner, Suleyman;
Bilguvar, Kaya;
Nazli Basak, Ayse;
Topaloglu, Haluk;
Tan, Meliha;
Tan, Uner;
Gunel, Murat;
Ozcelik, Tayfun

Publication type:

Article

Adaptive clustering and adaptive weighting methods to detect disease associated rare variants.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 332, doi. 10.1038/ejhg.2012.143

By:

Sha, Qiuying;
Wang, Shuaicheng;
Zhang, Shuanglin

Publication type:

Article

The practical implications when finding chromosome abnormalities.

Published in:

2013

By:

Hastings, Ros J

Publication type:

Book Review

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 248, doi. 10.1038/ejhg.2012.130

By:

Christenhusz, Gabrielle M;
Devriendt, Koenraad;
Dierickx, Kris

Publication type:

Article

Quality in genetic counselling for presymptomatic testing - clinical guidelines for practice across the range of genetic conditions.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 256, doi. 10.1038/ejhg.2012.174

By:

Skirton, Heather;
Goldsmith, Lesley;
Jackson, Leigh;
Tibben, Aad

Publication type:

Article

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 352, doi. 10.1038/ejhg.2012.137

By:

Kloeckener-Gruissem, Barbara;
Neidhardt, John;
Magyar, István;
Plauchu, Henri;
Zech, Jean-Christophe;
Morlé, Laurette;
Palmer-Smith, Sheila M;
MacDonald, Moira J;
Nas, Véronique;
Fry, Andrew E;
Berger, Wolfgang

Publication type:

Article

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 343, doi. 10.1038/ejhg.2012.157

By:

Nagamani, Sandesh C S;
Erez, Ayelet;
Ben-Zeev, Bruria;
Frydman, Moshe;
Winter, Susan;
Zeller, Robert;
El-Khechen, Dima;
Escobar, Luis;
Stankiewicz, Pawel;
Patel, Ankita;
Wai Cheung, Sau

Publication type:

Article

Population studies: return of research results and incidental findings Policy Statement.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 245, doi. 10.1038/ejhg.2012.152

By:

Knoppers, Bartha Maria;
Deschênes, Mylène;
Zawati, Ma'n H;
Tassé, Anne Marie

Publication type:

Article

Crossing the boundary between research and health care: P3G policy statement on return of results from population studies.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 243, doi. 10.1038/ejhg.2012.160

By:

Cornel, Martina C

Publication type:

Article

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 261, doi. 10.1038/ejhg.2012.179

By:

Facio, Flavia M;
Eidem, Haley;
Fisher, Tyler;
Brooks, Stephanie;
Linn, Amy;
Kaphingst, Kimberly A;
Biesecker, Leslie G;
Biesecker, Barbara B

Publication type:

Article

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 347, doi. 10.1038/ejhg.2012.154

By:

Haghighi, Amirreza;
Haghighi, Alireza;
Setoodeh, Aria;
Saleh-Gohari, Nasrollah;
Astuti, Dewi;
Barrett, Timothy G

Publication type:

Article

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 286, doi. 10.1038/ejhg.2012.169

By:

Lanthaler, Barbara;
Steichen-Gersdorf, Elisabeth;
Kollerits, Barbara;
Zschocke, Johannes;
Witsch-Baumgartner, Martina

Publication type:

Article

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 294, doi. 10.1038/ejhg.2012.173

By:

Meyer, Thomas;
Ruppert, Volker;
Ackermann, Sarah;
Richter, Anette;
Perrot, Andreas;
Sperling, Silke R;
Posch, Maximilian G;
Maisch, Bernhard;
Pankuweit, Sabine

Publication type:

Article

The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 301, doi. 10.1038/ejhg.2012.159

By:

Figueiredo, Joana;
Söderberg, Ola;
Simões-Correia, Joana;
Grannas, Karin;
Suriano, Gianpaolo;
Seruca, Raquel

Publication type:

Article