Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 8

Results: 18

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 988, doi. 10.1038/ejhg.2013.283

By:

Piccolo, Pasquale;
Mithbaokar, Pratibha;
Sabatino, Valeria;
Tolmie, John;
Melis, Daniela;
Schiaffino, Maria Cristina;
Filocamo, Mirella;
Andria, Generoso;
Brunetti-Pierri, Nicola

Publication type:

Article

Retrieving Y chromosomal haplogroup trees using GWAS data.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1046, doi. 10.1038/ejhg.2013.272

By:

Peng, Min-Sheng;
He, Jun-Dong;
Fan, Long;
Liu, Jie;
Adeola, Adeniyi C;
Wu, Shi-Fang;
Murphy, Robert W;
Yao, Yong-Gang;
Zhang, Ya-Ping

Publication type:

Article

Further delineation of the SATB2 phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1034, doi. 10.1038/ejhg.2013.280

By:

Döcker, Dennis;
Schubach, Max;
Menzel, Moritz;
Munz, Marita;
Spaich, Christiane;
Biskup, Saskia;
Bartholdi, Deborah

Publication type:

Article

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285

By:

Pham, Justin;
Shaw, Chad;
Pursley, Amber;
Hixson, Patricia;
Sampath, Srirangan;
Roney, Erin;
Gambin, Tomasz;
Kang, Sung-Hae L;
Bi, Weimin;
Lalani, Seema;
Bacino, Carlos;
Lupski, James R;
Stankiewicz, Pawel;
Patel, Ankita;
Cheung, Sau-Wai

Publication type:

Article

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1012, doi. 10.1038/ejhg.2013.277

By:

Dreesen, Jos;
Destouni, Aspasia;
Kourlaba, Georgia;
Degn, Birte;
Mette, Wulf Christensen;
Carvalho, Filipa;
Moutou, Celine;
Sengupta, Sioban;
Dhanjal, Seema;
Renwick, Pamela;
Davies, Steven;
Kanavakis, Emmanouel;
Harton, Gary;
Traeger-Synodinos, Joanne

Publication type:

Article

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258

By:

Navarro, Claire Laure;
Esteves-Vieira, Vera;
Courrier, Sébastien;
Boyer, Amandine;
Duong Nguyen, Thuy;
Huong, Le Thi Thanh;
Meinke, Peter;
Schröder, Winnie;
Cormier-Daire, Valérie;
Sznajer, Yves;
Amor, David J;
Lagerstedt, Kristina;
Biervliet, Martine;
van den Akker, Peter C;
Cau, Pierre;
Roll, Patrice;
Lévy, Nicolas;
Badens, Catherine;
Wehnert, Manfred;
De Sandre-Giovannoli, Annachiara

Publication type:

Article

WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 958, doi. 10.1038/ejhg.2013.275

By:

Downing, Nancy R;
Kim, Ji-In;
Williams, Janet K;
Long, Jeffrey D;
Mills, James A;
Paulsen, Jane S

Publication type:

Article

Clinical utility gene card for: Oculocutaneous albinism.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.307

By:

Grønskov, Karen;
Brøndum-Nielsen, Karen;
Lorenz, Birgit;
Preising, Markus N

Publication type:

Article

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1019, doi. 10.1038/ejhg.2013.284

By:

Spiegel, Ronen;
Mandel, Hanna;
Saada, Ann;
Lerer, Issy;
Burger, Ayala;
Shaag, Avraham;
Shalev, Stavit A;
Jabaly-Habib, Haneen;
Goldsher, Dorit;
Gomori, John M;
Lossos, Alex;
Elpeleg, Orly;
Meiner, Vardiella

Publication type:

Article

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.298

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 955, doi. 10.1038/ejhg.2013.301

By:

Middleton, Anna;
Patch, Chris;
Wiggins, Jennifer;
Barnes, Kathy;
Crawford, Gill;
Benjamin, Caroline;
Bruce, Anita

Publication type:

Article

Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1040, doi. 10.1038/ejhg.2013.282

By:

Li, Shengting;
Besenbacher, Soren;
Li, Yingrui;
Kristiansen, Karsten;
Grarup, Niels;
Albrechtsen, Anders;
Sparsø, Thomas;
Korneliussen, Thorfinn;
Hansen, Torben;
Wang, Jun;
Nielsen, Rasmus;
Pedersen, Oluf;
Bolund, Lars;
Schierup, Mikkel H

Publication type:

Article

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 979, doi. 10.1038/ejhg.2013.278

By:

Degrolard-Courcet, Emilie;
Sokolowska, Joanna;
Padeano, Marie-Martine;
Guiu, Séverine;
Bronner, Myriam;
Chery, Carole;
Coron, Fanny;
Lepage, Côme;
Chapusot, Caroline;
Loustalot, Catherine;
Jouve, Jean-Louis;
Hatem, Cyril;
Ferrant, Emmanuelle;
Martin, Laurent;
Coutant, Charles;
Baurand, Amandine;
Couillault, Gérard;
Delignette, Alexandra;
El Chehadeh, Salima;
Lizard, Sarab

Publication type:

Article

Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1051, doi. 10.1038/ejhg.2013.286

By:

Lobitz, Stephan;
Frömmel, Claudia;
Brose, Annemarie;
Klein, Jeannette;
Blankenstein, Oliver

Publication type:

Article

Research participants' attitudes towards the confidentiality of genomic sequence information.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 964, doi. 10.1038/ejhg.2013.276

By:

Jamal, Leila;
Sapp, Julie C;
Lewis, Katie;
Yanes, Tatiane;
Facio, Flavia M;
Biesecker, Leslie G;
Biesecker, Barbara B

Publication type:

Article

A more fitting term in the incidental findings debate: one term does not fit all situations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 957, doi. 10.1038/ejhg.2013.266

By:

Crawford, Gillian;
Fenwick, Angela;
Lucassen, Anneke

Publication type:

Article

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 995, doi. 10.1038/ejhg.2013.273

By:

van den Elzen, M E P;
Twigg, S R F;
Goos, J A C;
Hoogeboom, A J M;
van den Ouweland, A M W;
Wilkie, A O M;
Mathijssen, I M J

Publication type:

Article

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1026, doi. 10.1038/ejhg.2013.287

By:

Barisic, Ingeborg;
Odak, Ljubica;
Loane, Maria;
Garne, Ester;
Wellesley, Diana;
Calzolari, Elisa;
Dolk, Helen;
Addor, Marie-Claude;
Arriola, Larraitz;
Bergman, Jorieke;
Bianca, Sebastiano;
Doray, Berenice;
Khoshnood, Babak;
Klungsoyr, Kari;
McDonnell, Bob;
Pierini, Anna;
Rankin, Judith;
Rissmann, Anke;
Rounding, Catherine;
Queisser-Luft, Annette

Publication type:

Article