Works matching IS 00099163 AND DT 2017 AND VI 91 AND IP 1

Results: 21

NSD1 duplication in Silver-Russell syndrome ( SRS): molecular karyotyping in patients with SRS features.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 73, doi. 10.1111/cge.12803

By:

Sachwitz, J.;
Meyer, R.;
Fekete, G.;
Spranger, S.;
Matulevičienė, A.;
Kučinskas, V.;
Bach, A.;
Luczay, A.;
Brüchle, N.O.;
Eggermann, K.;
Zerres, K.;
Elbracht, M.;
Eggermann, T.

Publication type:

Article

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 100, doi. 10.1111/cge.12821

By:

Philips, A.K.;
Pinelli, M.;
de Bie, C.I.;
Mustonen, A.;
Määttä, T.;
Arts, H.H.;
Wu, K.;
Roepman, R.;
Moilanen, J.S.;
Raza, S.;
Varilo, T.;
Scala, G.;
Cocozza, S.;
Gilissen, C.;
van Gassen, K.L.I.;
Järvelä, I.

Publication type:

Article

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 86, doi. 10.1111/cge.12783

By:

Barresi, S.;
Niceta, M.;
Alfieri, P.;
Brankovic, V.;
Piccini, G.;
Bruselles, A.;
Barone, M.R.;
Cusmai, R.;
Tartaglia, M.;
Bertini, E.;
Zanni, G.

Publication type:

Article

Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 111, doi. 10.1111/cge.12791

By:

López‐Mourelo, O.;
Mur, E.;
Madrigal, I.;
Alvarez‐Mora, M.I.;
Gómez‐Ansón, B.;
Pagonabarraga, J.;
Rodriguez‐Revenga, L.;
Milà, M.

Publication type:

Article

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 79, doi. 10.1111/cge.12819

By:

Hucthagowder, V.;
Shenoy, A.;
Corliss, M.;
Vigh‐Conrad, K.A.;
Storer, C.;
Grange, D.K.;
Cottrell, C.E.

Publication type:

Article

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 115, doi. 10.1111/cge.12763

By:

Christaller, W. A. A.;
Vos, Y.;
Gebre‐Medhin, S.;
Hofstra, R. M. W.;
Schäfer, M. K. E.

Publication type:

Article

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 121, doi. 10.1111/cge.12774

By:

Nguyen, M.;
Boesten, I.;
Hellebrekers, D. M. E. I.;
Mulder‐den Hartog, N. M.;
de Coo, I. F. M.;
Smeets, H. J. M.;
Gerards, M.

Publication type:

Article

Phenotype-driven molecular autopsy for sudden cardiac death.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 22, doi. 10.1111/cge.12778

By:

Cann, F.;
Corbett, M.;
O'Sullivan, D.;
Tennant, S.;
Hailey, H.;
Grieve, J.H.K.;
Broadhurst, P.;
Rankin, R.;
Dean, J.C.S.

Publication type:

Article

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 126, doi. 10.1111/cge.12780

By:

Ramond, F.;
Janin, A.;
Di Filippo, S.;
Chanavat, V.;
Chalabreysse, L.;
Roux‐Buisson, N.;
Sanlaville, D.;
Touraine, R.;
Millat, G.

Publication type:

Article

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 92, doi. 10.1111/cge.12793

By:

Amos, J.S.;
Huang, L.;
Thevenon, J.;
Kariminedjad, A.;
Beaulieu, C.L.;
Masurel‐Paulet, A.;
Najmabadi, H.;
Fattahi, Z.;
Beheshtian, M.;
Tonekaboni, S.H.;
Tang, S.;
Helbig, K.L.;
Alcaraz, W.;
Rivière, J.‐B.;
Faivre, L.;
Innes, A.M.;
Lebel, R.R.;
Boycott, K.M.

Publication type:

Article

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 46, doi. 10.1111/cge.12815

By:

Martín, M.Á.;
García‐Silva, M.T.;
Barcia, G.;
Delmiro, A.;
Rodríguez‐García, M.E.;
Blázquez, A.;
Francisco‐Álvarez, R.;
Martín‐Hernández, E.;
Quijada‐Fraile, P.;
Tejada‐Palacios, P.;
Arenas, J.;
Santos, C.;
Martínez‐Azorín, F.

Publication type:

Article

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 30, doi. 10.1111/cge.12792

By:

Mierzewska, H.;
Rydzanicz, M.;
Biegański, T.;
Kosinska, J.;
Mierzewska‐Schmidt, M.;
Ługowska, A.;
Pollak, A.;
Stawiński, P.;
Walczak, A.;
Kędra, A.;
Obersztyn, E.;
Szczepanik, E.;
Płoski, R.

Publication type:

Article

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 106, doi. 10.1111/cge.12797

By:

Thuresson, A‐C.;
Van Buggenhout, G.;
Sheth, F.;
Kamate, M.;
Andrieux, J.;
Clayton Smith, J.;
Soussi Zander, C.

Publication type:

Article

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 38, doi. 10.1111/cge.12798

By:

Khan, K.N.;
Chana, R.;
Ali, N.;
Wright, G.;
Webster, A.R.;
Moore, A.T.;
Michaelides, M.

Publication type:

Article

Recent Advances in Imprinting Disorders.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 3, doi. 10.1111/cge.12827

By:

Soellner, L.;
Begemann, M.;
Mackay, D.J.G.;
Grønskov, K.;
Tümer, Z.;
Maher, E.R.;
Temple, I.K.;
Monk, D.;
Riccio, A.;
Linglart, A.;
Netchine, I.;
Eggermann, T.

Publication type:

Article

Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 137, doi. 10.1111/cge.12829

By:

Bishop, C.L;
Strong, K.A;
Dimmock, D.P

Publication type:

Article

Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 131, doi. 10.1111/cge.12833

By:

Suchon, P.;
Al Frouh, F.;
Ibrahim, M.;
Sarlon, G.;
Venton, G.;
Alessi, M.‐C.;
Trégouët, D.‐A.;
Morange, P.‐E.

Publication type:

Article

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 63, doi. 10.1111/cge.12847

By:

Paludan‐Müller, C.;
Ahlberg, G.;
Ghouse, J.;
Herfelt, C.;
Svendsen, J.H.;
Haunsø, S.;
Kanters, J.K.;
Olesen, M.S.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 91, n. 1, p. 1, doi. 10.1111/cge.12934
Publication type:: Article

CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum ( PROS).

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 14, doi. 10.1111/cge.12832

By:

Martinez‐Lopez, A.;
Blasco‐Morente, G.;
Perez‐Lopez, I.;
Herrera‐Garcia, J.D.;
Luque‐Valenzuela, M.;
Sanchez‐Cano, D.;
Lopez‐Gutierrez, J.C.;
Ruiz‐Villaverde, R.;
Tercedor‐Sanchez, J.

Publication type:

Article

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 54, doi. 10.1111/cge.12846

By:

Liu, A.;
Xu, X.;
Yang, X.;
Jiang, Y.;
Yang, Z.;
Liu, X.;
Wu, Y.;
Wu, X.;
Wei, L.;
Zhang, Y.

Publication type:

Article