Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 3

Results: 17

FERMT1 promoter mutations in patients with Kindler syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 248, doi. 10.1111/cge.12490

By:

Has, C.;
Chmel, N.;
Levati, L.;
Neri, I.;
Sonnenwald, T.;
Pigors, M.;
Godbole, K.;
Dudhbhate, A.;
Bruckner‐Tuderman, L.;
Zambruno, G.;
Castiglia, D.

Publication type:

Article

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 261, doi. 10.1111/cge.12496

By:

Ohtsuka, Y.;
Higashimoto, K.;
Sasaki, K.;
Jozaki, K.;
Yoshinaga, H.;
Okamoto, N.;
Takama, Y.;
Kubota, A.;
Nakayama, M.;
Yatsuki, H.;
Nishioka, K.;
Joh, K.;
Mukai, T.;
Yoshiura, K.‐i.;
Soejima, H.

Publication type:

Article

Genetics of human isolated hereditary hair loss disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 203, doi. 10.1111/cge.12531

By:

Basit, S.;
Khan, S.;
Ahmad, W.

Publication type:

Article

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 288, doi. 10.1111/cge.12492

By:

Okamoto, N.;
Miya, F.;
Tsunoda, T.;
Kato, M.;
Saitoh, S.;
Yamasaki, M.;
Shimizu, A.;
Torii, C.;
Kanemura, Y.;
Kosaki, K.

Publication type:

Article

The first mutation in CNGA2 in two brothers with anosmia.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 293, doi. 10.1111/cge.12491

By:

Karstensen, H.G.;
Mang, Y.;
Fark, T.;
Hummel, T.;
Tommerup, N.

Publication type:

Article

Pancreatic cancer genomics: where can the science take us?

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 213, doi. 10.1111/cge.12536

By:

Graham, J.S.;
Jamieson, N.B.;
Rulach, R.;
Grimmond, S.M.;
Chang, D.K.;
Biankin, A.V.

Publication type:

Article

Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 234, doi. 10.1111/cge.12481

By:

Kurlapska, A.;
Serrano‐Fernández, P.;
Baszuk, P.;
Gupta, S.;
Starzyńska, T.;
Małecka‐Panas, E.;
Dabrowski, A.;
Dębniak, T.;
Kurzawski, G.;
Suchy, J.;
Rogoza‐Mateja, W.;
Scott, R.J.;
Lubiński, J.

Publication type:

Article

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 224, doi. 10.1111/cge.12482

By:

Chaudhry, A.;
Noor, A.;
Degagne, B.;
Baker, K.;
Bok, L. A.;
Brady, A. F.;
Chitayat, D.;
Chung, B. H.;
Cytrynbaum, C.;
Dyment, D.;
Filges, I.;
Helm, B.;
Hutchison, H. T.;
Jeng, L. J. B.;
Laumonnier, F.;
Marshall, C. R.;
Menzel, M.;
Parkash, S.;
Parker, M. J.;
Raymond, L. F.

Publication type:

Article

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 255, doi. 10.1111/cge.12484

By:

Lin, J.‐L.;
Lee, W.‐I.;
Huang, J.‐L.;
Chen, P. K.‐T.;
Chan, K.‐C.;
Lo, L.‐J.;
You, Y.‐J.;
Shih, Y.‐F.;
Tseng, T.‐Y.;
Wu, M.‐C.

Publication type:

Article

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 278, doi. 10.1111/cge.12488

By:

Yorczyk, A.;
Robinson, L.S.;
Ross, T.S.

Publication type:

Article

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 283, doi. 10.1111/cge.12489

By:

Chograni, M.;
Alkuraya, F.S.;
Ourteni, I.;
Maazoul, F.;
Lariani, I.;
Chaabouni, H.B.

Publication type:

Article

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 267, doi. 10.1111/cge.12501

By:

Wadt, K.A.W.;
Aoude, L.G.;
Johansson, P.;
Solinas, A.;
Pritchard, A.;
Crainic, O.;
Andersen, M.T.;
Kiilgaard, J.F.;
Heegaard, S.;
Sunde, L.;
Federspiel, B.;
Madore, J.;
Thompson, J.F.;
McCarthy, S.W.;
Goodwin, A.;
Tsao, H.;
Jönsson, G.;
Busam, K.;
Gupta, R.;
Trent, J.M.

Publication type:

Article

Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 220, doi. 10.1111/cge.12523

By:

Schulman, J.D.;
Stern, H.J.

Publication type:

Article

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 297, doi. 10.1111/cge.12528

By:

Charzewska, A.;
Rzońca, S.;
Janeczko, M.;
Nawara, M.;
Smyk, M.;
Bal, J.;
Hoffman‐Zacharska, D.

Publication type:

Article

Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 273, doi. 10.1111/cge.12472

By:

de la Fouchardière, A.;
Cabaret, O.;
Savin, L.;
Combemale, P.;
Schvartz, H.;
Penet, C.;
Bonadona, V.;
Soufir, N.;
Bressac‐de Paillerets, B.

Publication type:

Article

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 241, doi. 10.1111/cge.12476

By:

Conti, V.;
Pantaleo, M.;
Barba, C.;
Baroni, G.;
Mei, D.;
Buccoliero, A. M.;
Giglio, S.;
Giordano, F.;
Baek, S. T.;
Gleeson, J. G.;
Guerrini, R.

Publication type:

Article

Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 300, doi. 10.1111/cge.12544

By:

Gadzicki, D.;
Döcker, D.;
Schubach, M.;
Menzel, M.;
Schmorl, B.;
Stellmer, F.;
Biskup, S.;
Bartholdi, D.

Publication type:

Article