Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 1

Results: 18

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 95, doi. 10.1111/cge.12516

By:

Zaki, M. S.;
Selim, L.;
Mansour, L.;
Mahmoud, I. G.;
Fenstermaker, A. G.;
Gabriel, S. B.;
Gleeson, J. G.

Publication type:

Article

Response to Dylan Mordaunt and Alisha McLauchlan.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 99, doi. 10.1111/cge.12587

By:

Boyle, M. I.;
Tümer, Z.

Publication type:

Article

HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 98, doi. 10.1111/cge.12588

By:

Mordaunt, D. A.;
McLauchlan, A.

Publication type:

Article

Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 13, doi. 10.1111/cge.12517

By:

Schneider, M.;
Chandler, K.;
Tischkowitz, M.;
Meyer, S.

Publication type:

Article

An assessment of Canadian systems for triaging referred out genetic testing.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 90, doi. 10.1111/cge.12435

By:

Christian, S.;
Blumenschein, P.;
Lilley, M.

Publication type:

Article

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 25, doi. 10.1111/cge.12479

By:

van der Steen, S.L.;
Diderich, K.E.M.;
Riedijk, S.R.;
Verhagen‐Visser, J.;
Govaerts, L.C.P.;
Joosten, M.;
Knapen, M.F.C.M.;
Van Opstal, D.;
Srebniak, M.I.;
Tibben, A.;
Galjaard, R.J.H.

Publication type:

Article

Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499

By:

Boyle, M.I.;
Jespersgaard, C.;
Brøndum‐Nielsen, K.;
Bisgaard, A.‐M.;
Tümer, Z.

Publication type:

Article

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 49, doi. 10.1111/cge.12440

By:

McInerney‐Leo, A. M.;
Duncan, E. L.;
Leo, P. J.;
Gardiner, B.;
Bradbury, L. A.;
Harris, J. E.;
Clark, G. R.;
Brown, M. A.;
Zankl, A.

Publication type:

Article

The role of targeted BRCA1/ BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 41, doi. 10.1111/cge.12441

By:

Peixoto, A.;
Santos, C.;
Pinto, P.;
Pinheiro, M.;
Rocha, P.;
Pinto, C.;
Bizarro, S.;
Veiga, I.;
Principe, A.S.;
Maia, S.;
Castro, F.;
Couto, R.;
Gouveia, A.;
Teixeira, M.R.

Publication type:

Article

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 80, doi. 10.1111/cge.12442

By:

Seo, S. H.;
Hwang, S. M.;
Ko, J. M.;
Ko, J. S.;
Hyun, Y. J.;
Cho, S. I.;
Park, H.;
Kim, S. Y.;
Seong, M.‐W.;
Park, S. S.

Publication type:

Article

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 56, doi. 10.1111/cge.12443

By:

Yu, L.‐H.;
Liu, D.;
Cai, R.;
Shang, X.;
Zhang, X.‐H.;
Ma, X.‐X.;
Yan, S.‐H.;
Fang, P.;
Zheng, C.‐G.;
Wei, X.‐F.;
Liu, Y.‐H.;
Zhou, T.‐B.;
Xu, X.‐M.

Publication type:

Article

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444

By:

Vela‐Amieva, M.;
Abreu‐González, M.;
González‐del Angel, A.;
Ibarra‐González, I.;
Fernández‐Lainez, C.;
Barrientos‐Ríos, R.;
Monroy‐Santoyo, S.;
Guillén‐López, S.;
Alcántara‐Ortigoza, M.A.

Publication type:

Article

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 68, doi. 10.1111/cge.12447

By:

Mantere, T.;
Haanpää, M.;
Hanenberg, H.;
Schleutker, J.;
Kallioniemi, A.;
Kähkönen, M.;
Parto, K.;
Avela, K.;
Aittomäki, K.;
von Koskull, H.;
Hartikainen, J.M.;
Kosma, V.‐M.;
Laasanen, S.‐L.;
Mannermaa, A.;
Pylkäs, K.;
Winqvist, R.

Publication type:

Article

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 74, doi. 10.1111/cge.12448

By:

Anderson, S.L.;
Jalas, C.;
Fedick, A.;
Reid, K.F.;
Carpenter, T.O.;
Chirnomas, D.;
Treff, N.R.;
Ekstein, J.;
Rubin, B.Y.

Publication type:

Article

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 34, doi. 10.1111/cge.12464

By:

Dyment, D.A.;
Tétreault, M.;
Beaulieu, C.L.;
Hartley, T.;
Ferreira, P.;
Chardon, J.W.;
Marcadier, J.;
Sawyer, S.L.;
Mosca, S.J.;
Innes, A.M.;
Parboosingh, J.S.;
Bulman, D.E.;
Schwartzentruber, J.;
Majewski, J.;
Tarnopolsky, M.;
Boycott, K.M.

Publication type:

Article

CRISPR screen: a high-throughput approach for cancer genetic research.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 32, doi. 10.1111/cge.12606

By:

Lu, Xiao‐Jie;
Xiang, Yuan‐Yuan;
Li, Xue‐Jing

Publication type:

Article

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. E1, doi. 10.1111/cge.12605

By:

Srour, M.;
Hamdan, F. F.;
Gan‐Or, Z.;
Labuda, D.;
Nassif, C.;
Oskoui, M.;
Gana‐Weisz, M.;
Orr‐Urtreger, A.;
Rouleau, G.A.;
Michaud, J.L.

Publication type:

Article

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 85, doi. 10.1111/cge.12438

By:

Verver, E.;
Pecci, A.;
De Rocco, D.;
Ryhänen, S.;
Barozzi, S.;
Kunst, H.;
Topsakal, V.;
Savoia, A.

Publication type:

Article