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

Results: 17

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
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
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
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
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