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
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
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
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
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
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
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
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
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
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
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