Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 6

Results: 20

Coffin-Siris syndrome is a SWI/ SNF complex disorder.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 548, doi. 10.1111/cge.12225

By:

Tsurusaki, Y.;
Okamoto, N.;
Ohashi, H.;
Mizuno, S.;
Matsumoto, N.;
Makita, Y.;
Fukuda, M.;
Isidor, B.;
Perrier, J.;
Aggarwal, S.;
Dalal, A.B.;
Al‐Kindy, A.;
Liebelt, J.;
Mowat, D.;
Nakashima, M.;
Saitsu, H.;
Miyake, N.

Publication type:

Article

Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 532, doi. 10.1111/cge.12353

By:

Wong, C.K.

Publication type:

Article

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 583, doi. 10.1111/cge.12232

By:

Brea‐Fernández, A.J.;
Cameselle‐Teijeiro, J.M.;
Alenda, C.;
Fernández‐Rozadilla, C.;
Cubiella, J.;
Clofent, J.;
Reñé, J.M.;
Anido, U.;
Milá, M.;
Balaguer, F.;
Castells, A.;
Castellvi‐Bel, S.;
Jover, R.;
Carracedo, A.;
Ruiz‐Ponte, C.

Publication type:

Article

Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 524, doi. 10.1111/cge.12335

By:

Baars, J.E.;
Bleiker, E.M.A.;
van Riel, E.;
Rodenhuis, C.C.;
Velthuizen, M.E.;
Schlich, K.J.;
Ausems, M.G.E.M.

Publication type:

Article

Genotype phenotype correlations for hearing impairment: Approaches to management.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 514, doi. 10.1111/cge.12339

By:

Hoefsloot, L. H.;
Feenstra, I.;
Kunst, H. P. M.;
Kremer, H.

Publication type:

Article

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 589, doi. 10.1111/cge.12212

By:

Diebold, B.;
Délepine, C.;
Nectoux, J.;
Bahi‐Buisson, N.;
Parent, P.;
Bienvenu, T.

Publication type:

Article

Incontinentia pigmenti diagnostic criteria update.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 536, doi. 10.1111/cge.12223

By:

Minić, S.;
Trpinac, D.;
Obradović, M.

Publication type:

Article

Retrospective study of the medium-chain acyl- CoA dehydrogenase deficiency in Portugal.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 555, doi. 10.1111/cge.12227

By:

Ventura, F.V.;
Leandro, P.;
Luz, A.;
Rivera, I.A.;
Silva, M.F.B.;
Ramos, R.;
Rocha, H.;
Lopes, A.;
Fonseca, H.;
Gaspar, A.;
Diogo, L.;
Martins, E.;
Leão‐Teles, E.;
Vilarinho, L.;
Tavares de Almeida, I.

Publication type:

Article

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 543, doi. 10.1111/cge.12200

By:

Mavridou, I.;
Cozar, M.;
Douzgou, S.;
Xaidara, A.;
Lianou, D.;
Vanier, M.T.;
Dimitriou, E.;
Grinberg, D.;
Vilageliu, L.;
Michelakakis, H.

Publication type:

Article

Myhre syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 503, doi. 10.1111/cge.12365

By:

Le Goff, C.;
Michot, C.;
Cormier‐Daire, V.

Publication type:

Article

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 592, doi. 10.1111/cge.12215

By:

Tsurusaki, Y.;
Yonezawa, R.;
Furuya, M.;
Nishimura, G.;
Pooh, R.K.;
Nakashima, M.;
Saitsu, H.;
Miyake, N.;
Saito, S.;
Matsumoto, N.

Publication type:

Article

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 568, doi. 10.1111/cge.12226

By:

Shaheen, R.;
Al‐Owain, M.;
Khan, A.O.;
Zaki, M.S.;
Hossni, H.A.A.;
Al‐Tassan, R.;
Eyaid, W.;
Alkuraya, F.S.

Publication type:

Article

Cleft lip/palate associated with 17p13.3 duplication involving a single candidate gene ( YWHAE).

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 600, doi. 10.1111/cge.12237

By:

Tucker, M.E.;
Escobar, L.F.

Publication type:

Article

Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 595, doi. 10.1111/cge.12220

By:

Miryounesi, M.;
Soltanzadeh, P.;
Modarressi, M.H.

Publication type:

Article

Carrier frequency of two BBS2 mutations in the Ashkenazi population.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 578, doi. 10.1111/cge.12231

By:

Fedick, A.;
Jalas, C.;
Abeliovich, D.;
Krakinovsky, Y.;
Ekstein, J.;
Ekstein, A.;
Treff, N.R.

Publication type:

Article

Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 598, doi. 10.1111/cge.12213

By:

Collet, C.;
Alessandri, J.‐L.;
Arnaud, E.;
Balu, M.;
Daire, V.C.;
Di Rocco, F.

Publication type:

Article

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 562, doi. 10.1111/cge.12224

By:

Shaaban, S.;
Duzcan, F.;
Yildirim, C.;
Chan, W.‐M.;
Andrews, C.;
Akarsu, N.A.;
Engle, E.C.

Publication type:

Article

Using pharmacogenetics in real time to guide therapy: the warfarin example.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 533, doi. 10.1111/cge.12378

By:

Aminkeng, F.

Publication type:

Article

Novel c. 191C>G (p. Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 573, doi. 10.1111/cge.12228

By:

Piekutowska-Abramczuk, D.;
Pronicki, M.;
Strawa, K.;
Karkucińska‐Więckowska, A.;
Szymańska‐Dębińska, T.;
Fidziańska, A.;
Więckowski, M.R.;
Jurkiewicz, D.;
Ciara, E.;
Jankowska, I.;
Sykut‐Cegielska, J.;
Krajewska‐Walasek, M.;
Płoski, R.;
Pronicka, E.

Publication type:

Article

GFI1B mutation causes autosomal dominant gray platelet syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 534, doi. 10.1111/cge.12380

By:

Aminkeng, F.

Publication type:

Article