Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 1

Results: 24

Measuring informed choice in population-based reproductive genetic screening: a systematic review.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 8, doi. 10.1038/ejhg.2014.89

By:

Ames, Alice Grace;
Metcalfe, Sylvia Ann;
Archibald, Alison Dalton;
Duncan, Rony Emily;
Emery, Jon

Publication type:

Article

Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 116, doi. 10.1038/ejhg.2014.47

By:

Polimanti, Renato;
Piacentini, Sara;
Iorio, Andrea;
De Angelis, Flavio;
Kozlov, Andrey;
Novelletto, Andrea;
Fuciarelli, Maria

Publication type:

Article

Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 72, doi. 10.1038/ejhg.2014.68

By:

Nam, Tai-Seung;
Kim, Jin Hee;
Chang, Chi-Hsuan;
Yoon, Woong;
Jung, Yoon Seok;
Kang, Sa-Yoon;
Shin, Boo Ahn;
Perng, Ming-Der;
Choi, Seok-Yong;
Kim, Myeong-Kyu

Publication type:

Article

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 140, doi. 10.1038/ejhg.2014.258

By:

MO, Kılınç;
VN, Ninis;
SA, Uğur;
B, Tüysüz;
M, Seven;
S, Balcı;
J, Goodship;
A, Tolun

Publication type:

Article

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 41, doi. 10.1038/ejhg.2014.49

By:

Seneca, Sara;
Vancampenhout, Kim;
Van Coster, Rudy;
Smet, Joél;
Lissens, Willy;
Vanlander, Arnaud;
De Paepe, Boel;
Jonckheere, An;
Stouffs, Katrien;
De Meirleir, Linda

Publication type:

Article

A new mutation in GFAP widens the spectrum of Alexander disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 1, doi. 10.1038/ejhg.2014.99

By:

Brenner, Michael;
Messing, Albee

Publication type:

Article

Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 34, doi. 10.1038/ejhg.2014.44

By:

Kasparian, Nadine A;
Rutstein, Alison;
Sansom-Daly, Ursula M;
Mireskandari, Shab;
Tyler, Janet;
Duffy, Jessica;
Tucker, Katherine M

Publication type:

Article

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 79, doi. 10.1038/ejhg.2014.54

By:

Riuró, Helena;
Campuzano, Oscar;
Berne, Paola;
Arbelo, Elena;
Iglesias, Anna;
Pérez-Serra, Alexandra;
Coll-Vidal, Mònica;
Partemi, Sara;
Mademont-Soler, Irene;
Picó, Ferran;
Allegue, Catarina;
Oliva, Antonio;
Gerstenfeld, Edward;
Sarquella-Brugada, Georgia;
Castro-Urda, Víctor;
Fernández-Lozano, Ignacio;
Mont, Lluís;
Brugada, Josep;
Scornik, Fabiana S;
Brugada, Ramon

Publication type:

Article

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 61, doi. 10.1038/ejhg.2014.53

By:

Sahoo, Trilochan;
Wang, Jia-Chi;
Elnaggar, Mohamed M;
Sanchez-Lara, Pedro;
Ross, Leslie P;
Mahon, Loretta W;
Hafezi, Katayoun;
Deming, Abigail;
Hinman, Lynne;
Bruno, Yovana;
Bartley, James A;
Liehr, Thomas;
Anguiano, Arturo;
Jones, Marilyn

Publication type:

Article

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 110, doi. 10.1038/ejhg.2014.56

By:

Fransen, Erik;
Bonneux, Sarah;
Corneveaux, Jason J;
Schrauwen, Isabelle;
Di Berardino, Federica;
White, Cory H;
Ohmen, Jeffrey D;
Van de Heyning, Paul;
Ambrosetti, Umberto;
Huentelman, Matthew J;
Van Camp, Guy;
Friedman, Rick A

Publication type:

Article

New insights into genotype-phenotype correlation for GLI3 mutations.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62

By:

Démurger, Florence;
Ichkou, Amale;
Mougou-Zerelli, Soumaya;
Le Merrer, Martine;
Goudefroye, Géraldine;
Delezoide, Anne-Lise;
Quélin, Chloé;
Manouvrier, Sylvie;
Baujat, Geneviève;
Fradin, Mélanie;
Pasquier, Laurent;
Megarbané, André;
Faivre, Laurence;
Baumann, Clarisse;
Nampoothiri, Sheela;
Roume, Joëlle;
Isidor, Bertrand;
Lacombe, Didier;
Delrue, Marie-Ange;
Mercier, Sandra

Publication type:

Article

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51

By:

Peddibhotla, Sirisha;
Nagamani, Sandesh CS;
Erez, Ayelet;
Hunter, Jill V;
Holder Jr, J Lloyd;
Carlin, Mary E;
Bader, Patricia I;
Perras, Helene MF;
Allanson, Judith E;
Newman, Leslie;
Simpson, Gayle;
Immken, LaDonna;
Powell, Erin;
Mohanty, Aaron;
Kang, Sung-Hae L;
Stankiewicz, Pawel;
Bacino, Carlos A;
Bi, Weimin;
Patel, Ankita;
Cheung, Sau W

Publication type:

Article

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 124, doi. 10.1038/ejhg.2014.50

By:

Underhill, Peter A;
Poznik, G David;
Rootsi, Siiri;
Järve, Mari;
Lin, Alice A;
Wang, Jianbin;
Passarelli, Ben;
Kanbar, Jad;
Myres, Natalie M;
King, Roy J;
Di Cristofaro, Julie;
Sahakyan, Hovhannes;
Behar, Doron M;
Kushniarevich, Alena;
Šarac, Jelena;
Šaric, Tena;
Rudan, Pavao;
Pathak, Ajai Kumar;
Chaubey, Gyaneshwer;
Grugni, Viola

Publication type:

Article

Parental expression is overvalued in the interpretation of rare inherited variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 4, doi. 10.1038/ejhg.2014.64

By:

Costain, Gregory

Publication type:

Article

Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 103, doi. 10.1038/ejhg.2014.48

By:

Xia, Qianghua;
Deliard, Sandra;
Yuan, Chao-Xing;
Johnson, Matthew E;
Grant, Struan FA

Publication type:

Article

Brain tumor risk according to germ-line variation in the MLLT10 locus.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 132, doi. 10.1038/ejhg.2014.70

By:

Egan, Kathleen M;
Baskin, Rebekah;
Nabors, L Burton;
Thompson, Reid C;
Olson, Jeffrey J;
Browning, James E;
Madden, Melissa H;
Monteiro, Alvaro N

Publication type:

Article

G is for Genes: The Impact of Genetics on Education and Achievement.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 139, doi. 10.1038/ejhg.2014.117

By:

Esquivel, Bernard

Publication type:

Article

Toward a common language for biobanking.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 22, doi. 10.1038/ejhg.2014.45

By:

Fransson, Martin N;
Rial-Sebbag, Emmanuelle;
Brochhausen, Mathias;
Litton, Jan-Eric

Publication type:

Article

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 49, doi. 10.1038/ejhg.2014.60

By:

Cartault, François;
Munier, Patrick;
Jacquemont, Marie-Line;
Vellayoudom, Jeannine;
Doray, Bérénice;
Payet, Christine;
Randrianaivo, Hanitra;
Laville, Jean-Marc;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 86, doi. 10.1038/ejhg.2014.52

By:

Zhang, Jin;
Zhang, Zhi-Xia;
Du, Peng-Chen;
Zhou, Wei;
Wu, Su-Dong;
Wang, Qi-Ling;
Chen, Cao;
Shi, Qi;
Chen, Chen;
Gao, Chen;
Tian, Chan;
Dong, Xiao-Ping

Publication type:

Article

Possible technical and biological explanations for the 'parental telomere length inheritance discrepancy' enigma.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 3, doi. 10.1038/ejhg.2014.65

By:

De Meyer, Tim;
Eisenberg, Dan T A

Publication type:

Article

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 67, doi. 10.1038/ejhg.2014.58

By:

Winston, Jincy;
Duerden, Laura;
Mort, Matthew;
Frayling, Ian M;
Rogers, Mark T;
Upadhyaya, Meena

Publication type:

Article

Further confirmation of the MED13L haploinsufficiency syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69

By:

van Haelst, Mieke M;
Monroe, Glen R;
Duran, Karen;
van Binsbergen, Ellen;
Breur, Johannes M;
Giltay, Jacques C;
van Haaften, Gijs

Publication type:

Article

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 29, doi. 10.1038/ejhg.2014.59

By:

Weinreich, Stephanie S;
Bosma, Astrid;
Henneman, Lidewij;
Rigter, Tessel;
Spruijt, Carla MJ;
Grimbergen, Anneliese JEMA;
Breuning, Martijn H;
de Koning, Eelco JP;
Losekoot, Monique;
Cornel, Martina C

Publication type:

Article