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

Results: 20

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
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
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
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
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
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
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
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
'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
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