Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 3

Results: 16

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 288, doi. 10.1111/cge.12360

By:

Szwiec, M.;
Jakubowska, A.;
Górski, B.;
Huzarski, T.;
Tomiczek‐Szwiec, J.;
Gronwald, J.;
Dębniak, T.;
Byrski, T.;
Kluźniak, W.;
Wokołorczyk, D.;
Birkenfeld, B.;
Akbari, M.R.;
Narod, S.A.;
Lubiński, J.;
Cybulski, C.

Publication type:

Article

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361

By:

Piard, J.;
Aral, B.;
Vabres, P.;
Holder‐Espinasse, M.;
Mégarbané, A.;
Gauthier, S.;
Capra, V.;
Pierquin, G.;
Callier, P.;
Baumann, C.;
Pasquier, L.;
Baujat, G.;
Martorell, L.;
Rodriguez, A.;
Brady, A. F.;
Boralevi, F.;
González‐Enseñat, M. A.;
Rio, M.;
Bodemer, C.;
Philip, N.

Publication type:

Article

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 293, doi. 10.1111/cge.12423

By:

Córdoba, M.;
Rodriguez, S.;
González Morón, D.;
Medina, N.;
Kauffman, M.A.

Publication type:

Article

Platelets are not all gray in GFI1B disease.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 299, doi. 10.1111/cge.12424

By:

Stevenson, W.S.;
Morel‐Kopp, M.‐C.;
Ward, C.M.

Publication type:

Article

Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 279, doi. 10.1111/cge.12357

By:

Hasegawa, K.;
Ohno, S.;
Kimura, H.;
Itoh, H.;
Makiyama, T.;
Yoshida, Y.;
Horie, M.

Publication type:

Article

The revised ghent nosology; reclassifying isolated ectopia lentis.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 284, doi. 10.1111/cge.12358

By:

Chandra, A.;
Patel, D.;
Aragon‐Martin, J.A.;
Pinard, A.;
Collod‐Béroud, G.;
Comeglio, P.;
Boileau, C.;
Faivre, L.;
Charteris, D.;
Child, A.H.;
Arno, G.

Publication type:

Article

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 233, doi. 10.1111/cge.12366

By:

Xiong, H.;
Tan, D.;
Wang, S.;
Song, S.;
Yang, H.;
Gao, K.;
Liu, A.;
Jiao, H.;
Mao, B.;
Ding, J.;
Chang, X.;
Wang, J.;
Wu, Y.;
Yuan, Y.;
Jiang, Y.;
Zhang, F.;
Wu, H.;
Wu, X.

Publication type:

Article

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia ( rMED).

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 273, doi. 10.1111/cge.12371

By:

Mäkitie, O.;
Geiberger, S.;
Horemuzova, E.;
Hagenäs, L.;
Moström, E.;
Nordenskjöld, M.;
Grigelioniene, G.;
Nordgren, A.

Publication type:

Article

A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 266, doi. 10.1111/cge.12372

By:

Kurashige, M.;
Hanaoka, K.;
Imamura, M.;
Udagawa, T.;
Kawaguchi, Y.;
Hasegawa, T.;
Hosoya, T.;
Yokoo, T.;
Maeda, S.

Publication type:

Article

Phosphoserine phosphatase ( PSPH) gene mutation in an intellectual disability family from Pakistan.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 296, doi. 10.1111/cge.12445

By:

Vincent, J.B.;
Jamil, T.;
Rafiq, M.A.;
Anwar, Z.;
Ayaz, M.;
Hameed, A.;
Nasr, T.;
Naeem, F.;
Khattak, N.A.;
Carter, M.;
Ahmed, I.;
John, P.;
Wiame, E.;
Andrade, D.M.;
Schaftingen, E.V.;
Mir, A.;
Ayub, M.

Publication type:

Article

Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 218, doi. 10.1111/cge.12415

By:

Inglis, A.;
Koehn, D.;
McGillivray, B.;
Stewart, S.E.;
Austin, J.

Publication type:

Article

Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 225, doi. 10.1111/cge.12419

By:

Boeldt, D.L.;
Schork, N.J.;
Topol, E.J.;
Bloss, C.S.

Publication type:

Article

Novel KDM6A ( UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome ( KS2).

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 252, doi. 10.1111/cge.12363

By:

Banka, S.;
Lederer, D.;
Benoit, V.;
Jenkins, E.;
Howard, E.;
Bunstone, S.;
Kerr, B.;
McKee, S.;
Lloyd, I.C.;
Shears, D.;
Stewart, H.;
White, S.M.;
Savarirayan, R.;
Mancini, G.M.S.;
Beysen, D.;
Cohn, R.D.;
Grisart, B.;
Maystadt, I.;
Donnai, D.

Publication type:

Article

Interactive e-counselling for genetics pre-test decisions: where are we now?

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 209, doi. 10.1111/cge.12430

By:

Birch, P.H.

Publication type:

Article

Ataxia telangiectasia: more variation at clinical and cellular levels.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 199, doi. 10.1111/cge.12453

By:

Taylor, A.M.R.;
Lam, Z.;
Last, J.I.;
Byrd, P.J.

Publication type:

Article

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 259, doi. 10.1111/cge.12400

By:

Morales‐Briceño, H.;
Chacón‐Camacho, O.F.;
Pérez‐González, E.A.;
Arteaga‐Vázquez, J.;
Rodríguez‐Violante, M.;
Cervantes‐Arriaga, A.;
Pérez‐Rodríguez, L.;
Zenteno, J.C.;
Mutchinick, O.M.

Publication type:

Article