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

Results: 20

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
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
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
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
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
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
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
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
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
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