Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 4

Results: 18

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 343, doi. 10.1111/cge.12373

By:

Forsythe, E.;
Sparks, K.;
Hoskins, B.E.;
Bagkeris, E.;
McGowan, B.M.;
Carroll, P.V.;
Huda, M.S.B.;
Mujahid, S.;
Peters, C.;
Barrett, T.;
Mohammed, S.;
Beales, P.L.

Publication type:

Article

Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 368, doi. 10.1111/cge.12375

By:

Landon, M.;
Ceulemans, S.;
Saraiya, D.S.;
Strike, B.;
Arnell, C.;
Burbidge, L.A.;
Moyes, K.;
Theisen, A.;
Fernandes, P.H.;
Ji, J.Q.;
Abbott, B.;
Kaldate, R.R.;
Roa, B.

Publication type:

Article

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 356, doi. 10.1111/cge.12394

By:

Nakajima, J.;
Okamoto, N.;
Tohyama, J.;
Kato, M.;
Arai, H.;
Funahashi, O.;
Tsurusaki, Y.;
Nakashima, M.;
Kawashima, H.;
Saitsu, H.;
Matsumoto, N.;
Miyake, N.

Publication type:

Article

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 330, doi. 10.1111/cge.12434

By:

Barkova, E.;
Mohan, U.;
Chitayat, D.;
Keating, S.;
Toi, A.;
Frank, J.;
Frank, R.;
Tomlinson, G.;
Glanc, P.

Publication type:

Article

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 378, doi. 10.1111/cge.12388

By:

Moalem, S.;
Brouillard, P.;
Kuypers, D.;
Legius, E.;
Harvey, E.;
Taylor, G.;
Francois, M.;
Vikkula, M.;
Chitayat, D.

Publication type:

Article

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 362, doi. 10.1111/cge.12395

By:

Longoni, M.;
Russell, M.K.;
High, F.A.;
Darvishi, K.;
Maalouf, F.I.;
Kashani, A.;
Tracy, A.A.;
Coletti, C.M.;
Loscertales, M.;
Lage, K.;
Ackerman, K.G.;
Woods, S.A.;
Ward ‐ Melver, C.;
Andrews, D.;
Lee, C.;
Pober, B.R.;
Donahoe, P.K.

Publication type:

Article

Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 383, doi. 10.1111/cge.12397

By:

Fostira, F.;
Konstantopoulou, I.;
Mavroudis, D.;
Tryfonopoulos, D.;
Yannoukakos, D.;
Voutsinas, G.E.

Publication type:

Article

Hypertrophic pyloric stenosis in twins; genetic or environmental factors.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 388, doi. 10.1111/cge.12399

By:

Gezer, H.Ö.;
Oguzkurt, P.;
Temiz, A.;
Hicsonmez, A.

Publication type:

Article

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 301, doi. 10.1111/cge.12460

By:

Anderson, J.A.;
Hayeems, R.Z.;
Shuman, C.;
Szego, M.J.;
Monfared, N.;
Bowdin, S.;
Zlotnik Shaul, R.;
Meyn, M.S.

Publication type:

Article

Living laboratory: whole-genome sequencing as a learning healthcare enterprise.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 311, doi. 10.1111/cge.12461

By:

Angrist, M.;
Jamal, L.

Publication type:

Article

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 319, doi. 10.1111/cge.12433

By:

Sie, A.S.;
Prins, J.B.;
van Zelst ‐ Stams, W.A.G.;
Veltman, J.A.;
Feenstra, I.;
Hoogerbrugge, N.

Publication type:

Article

MICU1 mutation: a genetic cause for a type of neuromuscular disease in children.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 327, doi. 10.1111/cge.12538

By:

Xu, X.

Publication type:

Article

Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 373, doi. 10.1111/cge.12383

By:

Tan, A.Y.;
Blumenfeld, J.;
Michaeel, A.;
Donahue, S.;
Bobb, W.;
Parker, T.;
Levine, D.;
Rennert, H.

Publication type:

Article

The homozygous p. V37I variant of GJB2 is associated with diverse hearing phenotypes.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 350, doi. 10.1111/cge.12387

By:

Chai, Y.;
Chen, D.;
Sun, L.;
Li, L.;
Chen, Y.;
Pang, X.;
Zhang, L.;
Wu, H.;
Yang, T.

Publication type:

Article

Identification of a recurrent BRCA1 exon 21-22 genomic rearrangement in Malay breast cancer patients.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 392, doi. 10.1111/cge.12451

By:

Hasmad, H.N.;
Sivanandan, K.;
Lee, V.;
Yip, C. ‐ H.;
Mohd Taib, N.A.;
Teo, S. ‐ H.

Publication type:

Article

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 395, doi. 10.1111/cge.12455

By:

Miyatake, S.;
Tada, H.;
Moriya, S.;
Takanashi, J.;
Hirano, Y.;
Hayashi, M.;
Oya, Y.;
Nakashima, M.;
Tsurusaki, Y.;
Miyake, N.;
Matsumoto, N.;
Saitsu, H.

Publication type:

Article

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 338, doi. 10.1111/cge.12404

By:

Guazzarotti, L.;
Tadini, G.;
Mancini, G.E.;
Giglio, S.;
Willoughby, C.E.;
Callea, M.;
Sani, I.;
Nannini, P.;
Mameli, C.;
Tenconi, A.A.;
Mauri, S.;
Bottero, A.;
Caimi, A.;
Morelli, M.;
Zuccotti, G.V.

Publication type:

Article

Mutations in C2CD3 cause oral-facial-digital syndrome through deregulation of centriole length.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 328, doi. 10.1111/cge.12545

By:

Ooi, J.

Publication type:

Article