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Results: 18

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
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
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
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
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
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
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
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
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
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
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
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
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
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