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

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

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

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

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

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

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

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

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

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

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

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

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

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