Works matching IS 00099163 AND DT 2014 AND VI 86 AND IP 3

Results: 18

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 220, doi. 10.1111/cge.12301

By:

Filges, I.;
Nosova, E.;
Bruder, E.;
Tercanli, S.;
Townsend, K.;
Gibson, W.T.;
Röthlisberger, B.;
Heinimann, K.;
Hall, J.G.;
Gregory‐Evans, C.Y.;
Wasserman, W.W.;
Miny, P.;
Friedman, J.M.

Publication type:

Article

Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 264, doi. 10.1111/cge.12271

By:

Liao, C.;
Fu, F.;
Li, R.;
Xie, G.‐e.;
Zhang, Y.‐l.;
Li, J.;
Li, D.‐z.

Publication type:

Article

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 238, doi. 10.1111/cge.12264

By:

Sheikhzadeh, S.;
Sondermann, C.;
Rybczynski, M.;
Habermann, C.R.;
Brockstaedt, L.;
Keyser, B.;
Kaemmerer, H.;
Mir, T.;
Staebler, A.;
Robinson, P.N.;
Kutsche, K.;
Berger, J.;
Blankenberg, S.;
von Kodolitsch, Y.

Publication type:

Article

Informed consent for human genetic and genomic studies: a systematic review.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 199, doi. 10.1111/cge.12384

By:

Khan, A.;
Capps, B.J.;
Sum, M.Y.;
Kuswanto, C.N.;
Sim, K.

Publication type:

Article

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 229, doi. 10.1111/cge.12315

By:

Eggington, J.M.;
Bowles, K.R.;
Moyes, K.;
Manley, S.;
Esterling, L.;
Sizemore, S.;
Rosenthal, E.;
Theisen, A.;
Saam, J.;
Arnell, C.;
Pruss, D.;
Bennett, J.;
Burbidge, L.A.;
Roa, B.;
Wenstrup, R.J.

Publication type:

Article

Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 298, doi. 10.1111/cge.12281

By:

Hong, Y.B.;
Jung, J.;
Jung, S.‐C.;
Chung, K.W.;
Choi, B.‐O.

Publication type:

Article

PIK3R1 mutations in SHORT syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 292, doi. 10.1111/cge.12263

By:

Schroeder, C.;
Riess, A.;
Bonin, M.;
Bauer, P.;
Riess, O.;
Döbler‐Neumann, M.;
Wieser, S.;
Moog, U.;
Tzschach, A.

Publication type:

Article

Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 287, doi. 10.1111/cge.12267

By:

Zhang, B.L.;
Ye, Z.;
Xu, R.L.;
You, X.H.;
Qin, Y.W.;
Wu, H.;
Cao, J.;
Zhang, J.L.;
Zheng, X.;
Zhao, X.X.

Publication type:

Article

EIF2AK4 genetic mutations cause a recessive form of rare and deadly lung disease, pulmonary veno-occlusive disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 218, doi. 10.1111/cge.12446

By:

Aminkeng, F.

Publication type:

Article

The communication of secondary variants: interviews with parents whose children have undergone array- CGH testing.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 207, doi. 10.1111/cge.12354

By:

Christenhusz, G.M.;
Devriendt, K.;
Peeters, H.;
Van Esch, H.;
Dierickx, K.

Publication type:

Article

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 270, doi. 10.1111/cge.12273

By:

Lee, H.J.;
Jung, J.;
Shin, J.W.;
Song, M.H.;
Kim, S.H.;
Lee, J.‐H.;
Lee, K.‐A.;
Shin, S.;
Kim, U.‐K.;
Bok, J.;
Lee, K.‐Y.;
Choi, J.Y.;
Park, H.J.

Publication type:

Article

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 276, doi. 10.1111/cge.12277

By:

Roos, L.;
Fang, M.;
Dali, C.;
Jensen, H.;
Christoffersen, N.;
Wu, B.;
Zhang, J.;
Xu, R.;
Harris, P.;
Xu, X.;
Grønskov, K.;
Tümer, Z.

Publication type:

Article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 246, doi. 10.1111/cge.12259

By:

Petit, F.;
Escande, F.;
Jourdain, A.S.;
Porchet, N.;
Amiel, J.;
Doray, B.;
Delrue, M.A.;
Flori, E.;
Kim, C.A.;
Marlin, S.;
Robertson, S.P.;
Manouvrier‐Hanu, S.;
Holder‐Espinasse, M.

Publication type:

Article

Mutations in POT1 predispose to familial cutaneous malignant melanoma.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 217, doi. 10.1111/cge.12416

By:

Trigueros‐Motos, L.

Publication type:

Article

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 282, doi. 10.1111/cge.12265

By:

Schrauwen, I.;
Sommen, M.;
Claes, C.;
Pinner, J.;
Flaherty, M.;
Collins, F.;
Van Camp, G.

Publication type:

Article

A novel deletion to normal size in the sperm of a fragile X full mutation male.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 295, doi. 10.1111/cge.12287

By:

Luo, S.;
Huang, W.;
Chen, C.;
Pan, Q.;
Duan, R.;
Wu, L.

Publication type:

Article

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 252, doi. 10.1111/cge.12258

By:

Fallerini, C.;
Dosa, L.;
Tita, R.;
Del Prete, D.;
Feriozzi, S.;
Gai, G.;
Clementi, M.;
La Manna, A.;
Miglietti, N.;
Mancini, R.;
Mandrile, G.;
Ghiggeri, G.M.;
Piaggio, G.;
Brancati, F.;
Diano, L.;
Frate, E.;
Pinciaroli, A.R.;
Giani, M.;
Castorina, P.;
Bresin, E.

Publication type:

Article

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 258, doi. 10.1111/cge.12261

By:

Rigoldi, M.;
Concolino, D.;
Morrone, A.;
Pieruzzi, F.;
Ravaglia, R.;
Furlan, F.;
Santus, F.;
Strisciuglio, P.;
Torti, G.;
Parini, R.

Publication type:

Article