Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 9

Results: 21

Clinical utility gene card for: Prader-Willi Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.66

By:

Buiting, Karin;
Cassidy, Suzanne B;
Driscoll, Daniel J;
Gillessen-Kaesbach, Gabriele;
Kanber, Deniz;
Tauber, Maithé;
Schwinger, Eberhard;
Horsthemke, Bernhard

Publication type:

Article

Managing clinically significant findings in research: the UK10K example.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1100, doi. 10.1038/ejhg.2013.290

By:

Kaye, Jane;
Hurles, Matthew;
Griffin, Heather;
Grewal, Jasote;
Bobrow, Martin;
Timpson, Nic;
Smee, Carol;
Bolton, Patrick;
Durbin, Richard;
Dyke, Stephanie;
Fitzpatrick, David;
Kennedy, Karen;
Kent, Alastair;
Muddyman, Dawn;
Muntoni, Francesco;
Raymond, Lucy F;
Semple, Robert;
Spector, Tim

Publication type:

Article

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1117, doi. 10.1038/ejhg.2013.306

By:

Kisseljova, Natalia P;
Dmitriev, Petr;
Katargin, Alexey;
Kim, Elena;
Ezerina, Daria;
Markozashvili, Diana;
Malysheva, Daria;
Planche, Emmeline;
Lemmers, Richard J L F;
van der Maarel, Silvère M;
Laoudj-Chenivesse, Dalila;
Lipinski, Marc;
Vassetzky, Yegor S

Publication type:

Article

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1058, doi. 10.1038/ejhg.2013.296

By:

McKibbin, Martin;
Ahmed, Mushtaq;
Allsop, Matthew J;
Downey, Louise;
Gale, Richard;
Grant, Hilary Louise;
Potrata, Barbara;
Willis, Thomas A;
Hewison, Jenny

Publication type:

Article

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1071, doi. 10.1038/ejhg.2013.302

By:

Soler-Alfonso, Claudia;
Carvalho, Claudia MB;
Ge, Jun;
Roney, Erin K;
Bader, Patricia I;
Kolodziejska, Katarzyna E;
Miller, Rachel M;
Lupski, James R;
Stankiewicz, Pawel;
Cheung, Sau Wai;
Bi, Weimin;
Schaaf, Christian P

Publication type:

Article

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.27

By:

Mackay, Deborah;
Bens, Susanne;
Perez de Nanclares, Guiomar;
Siebert, Reiner;
Temple, I Karen

Publication type:

Article

The 'extremely ancient' chromosome that isn't: a forensic bioinformatic investigation of Albert Perry's X-degenerate portion of the Y chromosome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1111, doi. 10.1038/ejhg.2013.303

By:

Elhaik, Eran;
Tatarinova, Tatiana V;
Klyosov, Anatole A;
Graur, Dan

Publication type:

Article

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1085, doi. 10.1038/ejhg.2013.292

By:

Bordeira-Carriço, Renata;
Ferreira, Daniel;
Mateus, Denisa D;
Pinheiro, Hugo;
Pêgo, Ana Paula;
Santos, Manuel AS;
Oliveira, Carla

Publication type:

Article

Human longevity and variation in DNA damage response and repair: study of the contribution of sub-processes using competitive gene-set analysis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1131, doi. 10.1038/ejhg.2013.299

By:

Debrabant, Birgit;
Soerensen, Mette;
Flachsbart, Friederike;
Dato, Serena;
Mengel-From, Jonas;
Stevnsner, Tinna;
Bohr, Vilhelm A;
Kruse, Torben A;
Schreiber, Stefan;
Nebel, Almut;
Christensen, Kaare;
Tan, Qihua;
Christiansen, Lene

Publication type:

Article

Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1137, doi. 10.1038/ejhg.2013.297

By:

Zawistowski, Matthew;
Reppell, Mark;
Wegmann, Daniel;
St Jean, Pamela L;
Ehm, Margaret G;
Nelson, Matthew R;
Novembre, John;
Zöllner, Sebastian

Publication type:

Article

ERIC: a new governance tool for Biobanking.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1055, doi. 10.1038/ejhg.2014.6

By:

Reichel, Jane;
Lind, Anna-Sara;
Hansson, Mats G;
Litton, Jan-Eric

Publication type:

Article

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.28

By:

Koehler, Udo;
Pabst, Brigitte;
Pober, Barbara;
Kozel, Beth

Publication type:

Article

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1149, doi. 10.1038/ejhg.2013.279

By:

Coppin, Lucie;
Grutzmacher, Claudine;
Crépin, Michel;
Destailleur, Evelyne;
Giraud, Sophie;
Cardot-Bauters, Catherine;
Porchet, Nicole;
Pigny, Pascal

Publication type:

Article

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291

By:

Pehlivan, Davut;
Karaca, Ender;
Aydin, Hatip;
Beck, Christine R;
Gambin, Tomasz;
Muzny, Donna M;
Bilge Geckinli, B;
Karaman, Ali;
Jhangiani, Shalini N;
Gibbs, Richard A;
Lupski, James R

Publication type:

Article

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1063, doi. 10.1038/ejhg.2013.300

By:

Vink, Christian P;
Ockeloen, Charlotte W;
ten Kate, Sietske;
Koolen, David A;
Ploos van Amstel, Johannes Kristian;
Kuijpers-Jagtman, Anne-Marie;
van Heumen, Celeste C;
Kleefstra, Tjitske;
Carels, Carine E L

Publication type:

Article

Clinical utility gene card for: Phosphomannose isomerase deficiency.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.29

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Clinical utility gene card for: Maturity-onset diabetes of the young.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.14

By:

Colclough, Kevin;
Saint-Martin, Cécile;
Timsit, José;
Ellard, Sian;
Bellanné-Chantelot, Christine

Publication type:

Article

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1105, doi. 10.1038/ejhg.2014.7

By:

Wang, Xue;
Xin, Qian;
Li, Lin;
Li, Jiangxia;
Zhang, Changwu;
Qiu, Rongfang;
Qian, Chenmin;
Zhao, Hailing;
Liu, Yongchao;
Shan, Shan;
Dang, Jie;
Bian, Xianli;
Shao, Changshun;
Gong, Yaoqin;
Liu, Qiji

Publication type:

Article

Structural and numerical changes of chromosome X in patients with esophageal atresia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1077, doi. 10.1038/ejhg.2013.295

By:

Brosens, Erwin;
de Jong, Elisabeth M;
Barakat, Tahsin Stefan;
Eussen, Bert H;
D'haene, Barbara;
De Baere, Elfride;
Verdin, Hannah;
Poddighe, Pino J;
Galjaard, Robert-Jan;
Gribnau, Joost;
Brooks, Alice S;
Tibboel, Dick;
de Klein, Annelies

Publication type:

Article

Coverage and efficiency in current SNP chips.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1124, doi. 10.1038/ejhg.2013.304

By:

Ha, Ngoc-Thuy;
Freytag, Saskia;
Bickeboeller, Heike

Publication type:

Article

Population-level expression variability of mitochondrial DNA-encoded genes in humans.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1093, doi. 10.1038/ejhg.2013.293

By:

Wang, Gang;
Yang, Ence;
Mandhan, Ishita;
Brinkmeyer-Langford, Candice L;
Cai, James J

Publication type:

Article