Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 5

Results: 17

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537

By:

Spena, S.;
Milani, D.;
Rusconi, D.;
Negri, G.;
Colapietro, P.;
Elcioglu, N.;
Bedeschi, F.;
Pilotta, A.;
Spaccini, L.;
Ficcadenti, A.;
Magnani, C.;
Scarano, G.;
Selicorni, A.;
Larizza, L.;
Gervasini, C.

Publication type:

Article

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 489, doi. 10.1111/cge.12539

By:

Rosti, R.O.;
Uyguner, Z.O.;
Nazarenko, I.;
Bekerecioglu, M.;
Cadilla, C.L.;
Ozgur, H.;
Lee, B.H.;
Aggarwal, A.K.;
Pehlivan, S.;
Desnick, R.J.

Publication type:

Article

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 425, doi. 10.1111/cge.12551

By:

Cohen, J.S.;
Levy, H.P.;
Sloan, J.;
Dariotis, J.;
Biesecker, B.B.

Publication type:

Article

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 416, doi. 10.1111/cge.12557

By:

Steffann, J.;
Monnot, S.;
Bonnefont, J.‐P.

Publication type:

Article

Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 502, doi. 10.1111/cge.12578

By:

Sayeed, M.Z.;
Salam, M.A.;
Islam, A.K.M. Monwarul;
Bhuiyan, Z.A.

Publication type:

Article

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 456, doi. 10.1111/cge.12521

By:

Nabais Sá, M.J.;
Storey, H.;
Flinter, F.;
Nagel, M.;
Sampaio, S.;
Castro, R.;
Araújo, J.A.;
Gaspar, M.A.;
Soares, C.;
Oliveira, A.;
Henriques, A.C.;
da Costa, A.G.;
Abreu, C.P.;
Ponce, P.;
Alves, R.;
Pinho, L.;
Silva, S.E.;
de Moura, C.P.;
Mendonça, L.;
Carvalho, F.

Publication type:

Article

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 462, doi. 10.1111/cge.12522

By:

Nabais Sá, M.J.;
Sampaio, S.;
Oliveira, A.;
Alves, S.;
Moura, C.P.;
Silva, S.E.;
Castro, R.;
Araújo, J.A.;
Rodrigues, M.;
Neves, F.;
Seabra, J.;
Soares, C.;
Gaspar, M.A.;
Tavares, I.;
Freitas, L.;
Sousa, T.C.;
Henriques, A.C.;
Costa, F.T.;
Morgado, E.;
Sousa, F.T.

Publication type:

Article

Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 450, doi. 10.1111/cge.12525

By:

Ariffin, H.;
Chan, A.S.L.;
Oh, L.;
Abd‐Ghafar, S.;
Ong, G.B.;
Mohamed, M.;
Razali, H.;
Juraida, E.;
Teo, S.H.;
Karsa, M.;
Shamsani, J.;
Hainaut, P.

Publication type:

Article

A review of craniofacial disorders caused by spliceosomal defects.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 405, doi. 10.1111/cge.12596

By:

Lehalle, D.;
Wieczorek, D.;
Zechi‐Ceide, R.M.;
Passos‐Bueno, M.R.;
Lyonnet, S.;
Amiel, J.;
Gordon, C.T.

Publication type:

Article

Toward an in-depth profiling of DTC users.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 505, doi. 10.1111/cge.12599

By:

Oliveri, S.;
Renzi, C.;
Pravettoni, G.

Publication type:

Article

A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5′ UTR causing primary hyperoxaluria type II.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 494, doi. 10.1111/cge.12541

By:

Fu, Y.;
Rope, R.;
Fargue, S.;
Cohen, H.T.;
Holmes, R.P.;
Cohen, D.M.

Publication type:

Article

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 468, doi. 10.1111/cge.12543

By:

Slavotinek, A.M.;
Garcia, S.T.;
Chandratillake, G.;
Bardakjian, T.;
Ullah, E.;
Wu, D.;
Umeda, K.;
Lao, R.;
Tang, P.L.‐F.;
Wan, E.;
Madireddy, L.;
Lyalina, S.;
Mendelsohn, B.A.;
Dugan, S.;
Tirch, J.;
Tischler, R.;
Harris, J.;
Clark, M.J.;
Chervitz, S.;
Patwardhan, A.

Publication type:

Article

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 441, doi. 10.1111/cge.12547

By:

Pengelly, R.J.;
Upstill‐Goddard, R.;
Arias, L.;
Martinez, J.;
Gibson, J.;
Knut, M.;
Collins, A.L.;
Ennis, S.;
Collins, A.;
Briceno, I.

Publication type:

Article

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 474, doi. 10.1111/cge.12518

By:

Levi, Z.;
Kariv, R.;
Barnes‐Kedar, I.;
Goldberg, Y.;
Half, E.;
Morgentern, S.;
Eli, B.;
Baris, H.N.;
Vilkin, A.;
Belfer, R.G.;
Niv, Y.;
Elhasid, R.;
Dvir, R.;
Abu‐Freha, N.;
Cohen, S.

Publication type:

Article

Fabry disease in a geriatric population.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 499, doi. 10.1111/cge.12585

By:

Barbey, F.;
Joly, D.;
Noel, E.;
Drouineau, O.;
Krayenbühl, P.‐A.;
Lidove, O.

Publication type:

Article

Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 479, doi. 10.1111/cge.12534

By:

Vanlerberghe, C.;
Faivre, L.;
Petit, F.;
Fruchart, O.;
Jourdain, A.‐S.;
Clavier, F.;
Gay, S.;
Manouvrier‐Hanu, S.;
Escande, F.

Publication type:

Article

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 484, doi. 10.1111/cge.12535

By:

Yang, L.;
Yang, J.;
Zhang, T.;
Weng, C.;
Hong, F.;
Tong, F.;
Yang, R.;
Yin, X.;
Yu, P.;
Huang, X.;
Qi, M.

Publication type:

Article