Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 3

Results: 21

Autosomal dominant PIK3R1 mutations cause SHORT syndrome.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 228, doi. 10.1111/cge.12262
By:
- Chung, B.K.;
- Gibson, W.T.
Publication type:
Article
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 290, doi. 10.1111/cge.12137
By:
- Schottmann, G.;
- Stenzel, W.;
- Lützkendorf, S.;
- Schuelke, M.;
- Knierim, E.
Publication type:
Article
Cholesterol metabolism is a potential therapeutic target for Rett syndrome.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 229, doi. 10.1111/cge.12284
By:
- Patankar, J.V.
Publication type:
Article
Disfluency: it is not always stuttering.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 298, doi. 10.1111/cge.12144
By:
- Cosyns, M.;
- van Zaalen, Y.;
- Mortier, G.;
- Janssens, S.;
- Amez, A.;
- Van Damme, J.;
- Van Borsel, J.
Publication type:
Article
Molecular and clinical characterization of Angelman syndrome in Chinese patients.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 273, doi. 10.1111/cge.12155
By:
- Bai, J.‐L.;
- Qu, Y.‐J.;
- Jin, Y.‐W.;
- Wang, H.;
- Yang, Y.‐L.;
- Jiang, Y.‐W.;
- Yang, X.‐Y.;
- Zou, L.‐P.;
- Song, F.
Publication type:
Article
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 300, doi. 10.1111/cge.12145
By:
- Rusticeanu, M.;
- Zimmer, V.;
- Schleithoff, L.;
- Wonney, K.;
- Viera, J.;
- Zimmer, A.;
- Hübschen, U.;
- Bohle, R.M.;
- Grünhage, F.;
- Lammert, F.
Publication type:
Article
Gonadal mosaicism as a rare cause of autosomal recessive inheritance.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 278, doi. 10.1111/cge.12156
By:
- Anazi, S.;
- Al‐Sabban, E.;
- Alkuraya, F.S.
Publication type:
Article
Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 260, doi. 10.1111/cge.12152
By:
- Mur, P.;
- Pineda, M.;
- Romero, A.;
- del Valle, J.;
- Borràs, E.;
- Canal, A.;
- Navarro, M.;
- Brunet, J.;
- Rueda, D.;
- Ramón y Cajal, T.;
- Lázaro, C.;
- Caldés, T.;
- Blanco, I.;
- Soto, J.L.;
- Capellá, G.
Publication type:
Article
Communication and technology in genetic counseling for familial cancer.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 213, doi. 10.1111/cge.12317
By:
- Lynch, H.T.;
- Snyder, C.;
- Stacey, M.;
- Olson, B.;
- Peterson, S.K.;
- Buxbaum, S.;
- Shaw, T.;
- Lynch, P.M.
Publication type:
Article
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 233, doi. 10.1111/cge.12138
By:
- Marle, N.;
- Martinet, D.;
- Aboura, A.;
- Joly‐Helas, G.;
- Andrieux, J.;
- Flori, E.;
- Puechberty, J.;
- Vialard, F.;
- Sanlaville, D.;
- Fert Ferrer, S.;
- Bourrouillou, G.;
- Tabet, A.C.;
- Quilichini, B.;
- Simon‐Bouy, B.;
- Bazin, A.;
- Becker, M.;
- Stora, H.;
- Amblard, S.;
- Doco‐Fenzy, M.;
- Molina Gomes, D.
Publication type:
Article
Polydactyly: phenotypes, genetics and classification.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 203, doi. 10.1111/cge.12276
By:
- Malik, S.
Publication type:
Article
Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 296, doi. 10.1111/cge.12140
By:
- Maruyama, H.;
- Morino, H.;
- Miyamoto, R.;
- Murakami, N.;
- Hamano, T.;
- Kawakami, H.
Publication type:
Article
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 286, doi. 10.1111/cge.12148
By:
- Todorova, A.;
- Litvinenko, I.;
- Todorov, T.;
- Tincheva, R.;
- Avdjieva, D.;
- Tincheva, S.;
- Mitev, V.
Publication type:
Article
BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 302, doi. 10.1111/cge.12345
Publication type:
Article
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 267, doi. 10.1111/cge.12154
By:
- Biancheri, Roberta;
- Grossi, Serena;
- Regis, Stefano;
- Rossi, Andrea;
- Corsolini, Fabio;
- Rossi, Daniela Paola;
- Cavalli, Pietro;
- Severino, Mariasavina;
- Filocamo, Mirella
Publication type:
Article
What is a biobank? Differing definitions among biobank stakeholders.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 223, doi. 10.1111/cge.12268
By:
- Shaw, D.M.;
- Elger, B.S.;
- Colledge, F.
Publication type:
Article
Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 293, doi. 10.1111/cge.12147
By:
- Beneteau, C.;
- Thierry, G.;
- Blesson, S.;
- Le Vaillant, C.;
- Picard, V.;
- Béné, M.C.;
- Eveillard, M.;
- Le Caignec, C.
Publication type:
Article
Novel cilia-dependent pathway activates rapid cyst growth in autosomal dominant polycystic kidney disease.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 230, doi. 10.1111/cge.12285
By:
- Patankar, J.V.
Publication type:
Article
Familial clustering and genetic heterogeneity in Meniere's disease.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 245, doi. 10.1111/cge.12150
By:
- Requena, T.;
- Espinosa‐Sanchez, J.M.;
- Cabrera, S.;
- Trinidad, G.;
- Soto‐Varela, A.;
- Santos‐Perez, S.;
- Teggi, R.;
- Perez, P.;
- Batuecas‐Caletrio, A.;
- Fraile, J.;
- Aran, I.;
- Martin, E.;
- Benitez, J.;
- Pérez‐Fernández, N.;
- Lopez‐Escamez, J.A.
Publication type:
Article
Genome-wide androgenetic mosaicism.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 282, doi. 10.1111/cge.12146
By:
- Johnson, J.P.;
- Waterson, J.;
- Schwanke, C.;
- Schoof, J.
Publication type:
Article
Regional differences in the frequency of the c. 985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 253, doi. 10.1111/cge.12157
By:
- Leal, J.;
- Ades, A.E.;
- Wordsworth, S.;
- Dezateux, C.
Publication type:
Article