Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 5

Results: 18

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 496, doi. 10.1111/cge.12466

By:

Tham, E.;
Nishimura, G.;
Geiberger, S.;
Horemuzova, E.;
Nilsson, D.;
Lindstrand, A.;
Hammarsjö, A.;
Armenio, M.;
Mäkitie, O.;
Zabel, B.;
Nordgren, A.;
Nordenskjöld, M.;
Grigelioniene, G.

Publication type:

Article

Spinal neurofibromatosis and phenotypic heterogeneity in NF1.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 399, doi. 10.1111/cge.12532

By:

Korf, Bruce R.

Publication type:

Article

BRCA1 and BRCA2 mutations and the risk for colorectal cancer.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 411, doi. 10.1111/cge.12497

By:

Sopik, V.;
Phelan, C.;
Cybulski, C.;
Narod, S.A.

Publication type:

Article

Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 473, doi. 10.1111/cge.12405

By:

Vadaparampil, S.T.;
Scherr, C.L.;
Cragun, D.;
Malo, T.L.;
Pal, T.

Publication type:

Article

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 440, doi. 10.1111/cge.12406

By:

Costantini, S.;
Malerba, G.;
Contreas, G.;
Corradi, M.;
Marin Vargas, S.P.;
Giorgetti, A.;
Maffeis, C.

Publication type:

Article

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 401, doi. 10.1111/cge.12498

By:

Ruggieri, M.;
Polizzi, A.;
Spalice, A.;
Salpietro, V.;
Caltabiano, R.;
D'Orazi, V.;
Pavone, P.;
Pirrone, C.;
Magro, G.;
Platania, N.;
Cavallaro, S.;
Muglia, M.;
Nicita, F.

Publication type:

Article

The implications of de novo coding mutations in simplex autism families.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 428, doi. 10.1111/cge.12582

By:

Utami, K. H.

Publication type:

Article

Routine assessment of psychosocial problems after cancer genetic counseling: results from a randomized controlled trial.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 419, doi. 10.1111/cge.12473

By:

Eijzenga, W.;
Bleiker, E.M.A.;
Ausems, M.G.E.M.;
Sidharta, G.N.;
Van der Kolk, L.E.;
Velthuizen, M.E.;
Hahn, D.E.E.;
Aaronson, N.K.

Publication type:

Article

The importance of genetic susceptibility in Dupuytren's disease.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 483, doi. 10.1111/cge.12410

By:

Becker, K.;
Tinschert, S.;
Lienert, A.;
Bleuler, P.E.;
Staub, F.;
Meinel, A.;
Rößler, J.;
Wach, W.;
Hoffmann, R.;
Kühnel, F.;
Damert, H.‐G.;
Nick, H.‐E.;
Spicher, R.;
Lenze, W.;
Langer, M.;
Nürnberg, P.;
Hennies, H.C.

Publication type:

Article

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 492, doi. 10.1111/cge.12413

By:

Vorster, A.A.;
Beighton, P.;
Ramesar, R.S.

Publication type:

Article

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 455, doi. 10.1111/cge.12417

By:

Kodera, H.;
Ando, N.;
Yuasa, I.;
Wada, Y.;
Tsurusaki, Y.;
Nakashima, M.;
Miyake, N.;
Saitoh, S.;
Matsumoto, N.;
Saitsu, H.

Publication type:

Article

Germline TP53 mutations is common in patients with two early-onset primary malignancies.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 499, doi. 10.1111/cge.12480

By:

Chak, B. P.;
Chan, E. S.;
Tong, J. H.;
Leung, A. W.;
Cheng, F. W.;
Lam, G. K.;
Shing, M. M.;
Li, C. K.;
To, K. F.

Publication type:

Article

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 430, doi. 10.1111/cge.12437

By:

Chaussenot, A.;
Rouzier, C.;
Quere, M.;
Plutino, M.;
Ait‐El‐Mkadem, S.;
Bannwarth, S.;
Barth, M.;
Dollfus, H.;
Charles, P.;
Nicolino, M.;
Chabrol, B.;
Vialettes, B.;
Paquis‐Flucklinger, V.

Publication type:

Article

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c. 109C>T (p. R37X).

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 461, doi. 10.1111/cge.12420

By:

Basehore, M.J.;
Michaelson‐Cohen, R.;
Levy‐Lahad, E.;
Sismani, C.;
Bird, L.M.;
Friez, M.J.;
Walsh, T.;
Abidi, F.;
Holloway, L.;
Skinner, C.;
McGee, S.;
Alexandrou, A.;
Syrrou, M.;
Patsalis, P.C.;
Raymond, G.;
Wang, T.;
Schwartz, C.E.;
King, M.‐C.;
Stevenson, R.E.

Publication type:

Article

SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 467, doi. 10.1111/cge.12452

By:

Chen, Y.;
Cao, Y.;
Li, H.‐B.;
Mao, J.;
Liu, M.‐J.;
Liu, Y.‐H.;
Wang, B.‐J.;
Jiang, D.;
Zhu, Q.;
Ding, Y.;
Wang, W.;
Li, H.;
Choy, K.W.

Publication type:

Article

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 488, doi. 10.1111/cge.12421

By:

Nguyen, K.;
Putoux, A.;
Busa, T.;
Cordier, M.P.;
Sigaudy, S.;
Till, M.;
Chabrol, B.;
Michel‐Calemard, L.;
Bernard, R.;
Julia, S.;
Malzac, P.;
Labalme, A.;
Missirian, C.;
Edery, P.;
Popovici, C.;
Philip, N.;
Sanlaville, D.

Publication type:

Article

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 478, doi. 10.1111/cge.12407

By:

Shinawi, M.;
Coorg, R.;
Shimony, J.S.;
Grange, D.K.;
Al‐Kateb, H.

Publication type:

Article

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 448, doi. 10.1111/cge.12428

By:

Saint‐Martin, C.;
Zhou, Q.;
Martin, G.M.;
Vaury, C.;
Leroy, G.;
Arnoux, J.‐B.;
de Lonlay, P.;
Shyng, S.‐L.;
Bellanné‐Chantelot, C.

Publication type:

Article