Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 4

Results: 20

Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 401, doi. 10.1111/cge.12554

By:

Kanbayashi, Takamichi;
Saito, Fumiaki;
Matsukawa, Takashi;
Oba, Hiroshi;
Hokkoku, Keiichi;
Hatanaka, Yuki;
Tsuji, Shoji;
Sonoo, Masahiro

Publication type:

Article

Whole-genome sequencing provides insight into the genetics of major depressive disorder.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 340, doi. 10.1111/cge.12651

By:

Drögemöller, B.

Publication type:

Article

Genomic study of congenital insensitivity to pain provides new avenues for the development of analgesics.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 342, doi. 10.1111/cge.12652

By:

Wright, G.E.B.

Publication type:

Article

Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 339, doi. 10.1111/cge.12624

By:

Farhan, S.M.K.

Publication type:

Article

Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 396, doi. 10.1111/cge.12500

By:

Zhen, D.B.;
Swiecicki, P.L.;
Zeldenrust, S.R.;
Dispenzieri, A.;
Mauermann, M.L.;
Gertz, M.A.

Publication type:

Article

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 360, doi. 10.1111/cge.12503

By:

Snow, A.K.;
Tuohy, T.M.F.;
Sargent, N.R.;
Smith, L.J.;
Burt, R.W.;
Neklason, D.W.

Publication type:

Article

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 371, doi. 10.1111/cge.12505

By:

Abugattas, J.;
Llacuachaqui, M.;
Allende, Y. Sullcahuaman;
Velásquez, A. Arias;
Velarde, R.;
Cotrina, J.;
Garcés, M.;
León, M.;
Calderón, G.;
de la Cruz, M.;
Mora, P.;
Royer, R.;
Herzog, J.;
Weitzel, J.N.;
Narod, S.A.

Publication type:

Article

Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 320, doi. 10.1111/cge.12540

By:

Kleiderman, E.;
Avard, D.;
Besso, A.;
Ali‐Khan, S.;
Sauvageau, G.;
Hébert, J.

Publication type:

Article

p. L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 376, doi. 10.1111/cge.12507

By:

Pasqualim, G.;
Ribeiro, M.G.;
da Fonseca, G.G.G.;
Szlago, M.;
Schenone, A.;
Lemes, A.;
Rojas, M.V.M.;
Matte, U.;
Giugliani, R.

Publication type:

Article

Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 381, doi. 10.1111/cge.12508

By:

Broman, M.;
Kleinschnitz, I.;
Bach, J.E.;
Rost, S.;
Islander, G.;
Müller, C.R.

Publication type:

Article

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 366, doi. 10.1111/cge.12524

By:

Cybulski, C.;
Lubiński, J.;
Wokołorczyk, D.;
Kuźniak, W.;
Kashyap, A.;
Sopik, V.;
Huzarski, T.;
Gronwald, J.;
Byrski, T.;
Szwiec, M.;
Jakubowska, A.;
Górski, B.;
Dębniak, T.;
Narod, S.A;
Akbari, M.R

Publication type:

Article

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 386, doi. 10.1111/cge.12511

By:

Shashi, V.;
Xie, P.;
Schoch, K.;
Goldstein, D.B.;
Howard, T.D.;
Berry, M.N.;
Schwartz, C.E.;
Cronin, K.;
Sliwa, S.;
Allen, A.;
Need, A.C.

Publication type:

Article

SOX10 mutations mimic isolated hearing loss.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 352, doi. 10.1111/cge.12506

By:

Pingault, V.;
Faubert, E.;
Baral, V.;
Gherbi, S.;
Loundon, N.;
Couloigner, V.;
Denoyelle, F.;
Noël‐Pétroff, N.;
Ducou Le Pointe, H.;
Elmaleh‐Bergès, M.;
Bondurand, N.;
Marlin, S.

Publication type:

Article

Genetic testing for RAD51C mutations: in the clinic and community.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 303, doi. 10.1111/cge.12548

By:

Sopik, V.;
Akbari, M.R.;
Narod, S.A.

Publication type:

Article

Cranio-facial clefts in pre-hispanic America.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 336, doi. 10.1111/cge.12619

By:

Marius‐Nunez, A. L.;
Wasiak, D. T.

Publication type:

Article

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. e1, doi. 10.1111/cge.12634

By:

Ortega‐Recalde, O.;
Beltrán, O.I.;
Gálvez, J.M.;
Palma‐Montero, A.;
Restrepo, C.M.;
Mateus, H.E.;
Laissue, P.

Publication type:

Article

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 327, doi. 10.1111/cge.12637

By:

Heimer, G.;
Marek‐Yagel, D.;
Eyal, E.;
Barel, O.;
Oz Levi, D.;
Hoffmann, C.;
Ruzzo, E.K.;
Ganelin‐Cohen, E.;
Lancet, D.;
Pras, E.;
Rechavi, G.;
Nissenkorn, A.;
Anikster, Y.;
Goldstein, D.B.;
Ben Zeev, B.

Publication type:

Article

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 313, doi. 10.1111/cge.12546

By:

Nguyen, M.T.;
Charlebois, K.

Publication type:

Article

'It had to be done': genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 344, doi. 10.1111/cge.12513

By:

Etchegary, H.;
Pullman, D.;
Simmonds, C.;
Young, T.‐L.;
Hodgkinson, K.

Publication type:

Article

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 391, doi. 10.1111/cge.12515

By:

Chaves, R.G.;
Pereira, L. da Veiga;
de Araújo, F.T.;
Rozenberg, R.;
Carvalho, M.D.F.;
Coelho, J.C.;
Michelin‐Tirelli, K.;
Chaves, M. de Freitas;
Cavalcanti, G.B.

Publication type:

Article