Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 3

Results: 22

Antibody deficiency in Rubinstein-Taybi syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 355, doi. 10.1111/cge.12671

By:

Herriot, R.;
Miedzybrodzka, Z.

Publication type:

Article

Fetal phenotypes in otopalatodigital spectrum disorders.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 371, doi. 10.1111/cge.12679

By:

Naudion, S.;
Moutton, S.;
Coupry, I.;
Sole, G.;
Deforges, J.;
Guerineau, E.;
Hubert, C.;
Deves, S.;
Pilliod, J.;
Rooryck, C.;
Abel, C.;
Le Breton, F.;
Collardeau‐Frachon, S.;
Cordier, M.P.;
Delezoide, A.L.;
Goldenberg, A.;
Loget, P.;
Melki, J.;
Odent, S.;
Patrier, S.

Publication type:

Article

Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 336, doi. 10.1111/cge.12620

By:

De Brakeleer, S.;
De Grève, J.;
Desmedt, C.;
Joris, S.;
Sotiriou, C.;
Piccart, M.;
Pauwels, I.;
Teugels, E.

Publication type:

Article

Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 378, doi. 10.1111/cge.12597

By:

Kaphingst, K.A.;
Ivanovich, J.;
Biesecker, B.B.;
Dresser, R.;
Seo, J.;
Dressler, L.G.;
Goodfellow, P.J.;
Goodman, M.S.

Publication type:

Article

Neurofibromatosis type 1 and malignancy in childhood.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 341, doi. 10.1111/cge.12625

By:

Varan, A.;
Şen, H.;
Aydın, B.;
Yalçın, B.;
Kutluk, T.;
Akyüz, C.

Publication type:

Article

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 320, doi. 10.1111/cge.12628

By:

Vinther‐Jensen, T.;
Nielsen, T.T.;
Budtz‐Jørgensen, E.;
Larsen, I.U.;
Hansen, M.M.;
Hasholt, L.;
Hjermind, L.E.;
Nielsen, J.E.;
Nørremølle, A.

Publication type:

Article

Epidemiology of Huntington disease: first post- HTT gene analysis of prevalence in Italy.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 367, doi. 10.1111/cge.12574

By:

Squitieri, F.;
Griguoli, A.;
Capelli, G.;
Porcellini, A.;
D'Alessio, B.

Publication type:

Article

Genetic aspects of Huntington's disease in Latin America. A systematic review.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 295, doi. 10.1111/cge.12641

By:

Castilhos, R.M.;
Augustin, M.C.;
Santos, J.A.;
Perandones, C.;
Saraiva‐Pereira, M.L.;
Jardim, L.B.

Publication type:

Article

Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 304, doi. 10.1111/cge.12647

By:

Finch, A.;
Wang, M.;
Fine, A.;
Atri, L.;
Khalouei, S.;
Pupavac, M.;
Rosen, B.;
Eisen, A.;
Elser, C.;
Charames, G.;
Metcalfe, K.;
Chang, M.C.;
Narod, S.A.;
Lerner‐Ellis, J.

Publication type:

Article

Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 385, doi. 10.1111/cge.12627

By:

Crawford, H.A.;
Barton, B.;
Wilson, M.J.;
Berman, Y.;
McKelvey‐Martin, V.J.;
Morrison, P.J.;
North, K.N.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 89, n. 3, p. 273, doi. 10.1111/cge.12661
Publication type:: Article

Comorbidity in the Tunisian population.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 312, doi. 10.1111/cge.12616

By:

Romdhane, L.;
Messaoud, O.;
Bouyacoub, Y.;
Kerkeni, E.;
Naouali, C.;
Cherif Ben Abdallah, L.;
Tiar, A.;
Charfeddine, C.;
Monastiri, K.;
Chabchoub, I.;
Hachicha, M.;
Tadmouri, G.O.;
Romeo, G.;
Abdelhak, S.

Publication type:

Article

Response to Evans et al.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 400, doi. 10.1111/cge.12686

By:

Narod, S.A.

Publication type:

Article

Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 399, doi. 10.1111/cge.12687

By:

Evans, D. G.;
Clancy, T.;
Hill, J.;
Tischkowitz, M.

Publication type:

Article

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 285, doi. 10.1111/cge.12630

By:

Rai, K.;
Pilarski, R.;
Cebulla, C.M.;
Abdel‐Rahman, M.H.

Publication type:

Article

Growth in neurofibromatosis 1 microdeletion patients.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 351, doi. 10.1111/cge.12632

By:

Ning, X.;
Farschtschi, S.;
Jones, A.;
Kehrer‐Sawatzki, H.;
Mautner, V.‐F.;
Friedman, J. M.

Publication type:

Article

Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 392, doi. 10.1111/cge.12653

By:

Katz, L.H.;
Burton‐Chase, A.M.;
Advani, S.;
Fellman, B.;
Polivka, K.M.;
Yuan, Y.;
Lynch, P.M.;
Peterson, S.K.

Publication type:

Article

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 275, doi. 10.1111/cge.12654

By:

Sawyer, S.L.;
Hartley, T.;
Dyment, D.A.;
Beaulieu, C.L.;
Schwartzentruber, J.;
Smith, A.;
Bedford, H.M.;
Bernard, G.;
Bernier, F.P.;
Brais, B.;
Bulman, D.E.;
Warman Chardon, J.;
Chitayat, D.;
Deladoëy, J.;
Fernandez, B.A.;
Frosk, P.;
Geraghty, M.T.;
Gerull, B.;
Gibson, W.;
Gow, R.M.

Publication type:

Article

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 346, doi. 10.1111/cge.12600

By:

Ejerskov, C.;
Farholt, S.;
Skovby, F.;
Vestergaard, E.M.;
Haagerup, A.

Publication type:

Article

Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 328, doi. 10.1111/cge.12602

By:

Trottier, M.;
Lunn, J.;
Butler, R.;
Curling, D.;
Turnquest, T.;
Francis, W.;
Halliday, D.;
Royer, R.;
Zhang, S.;
Li, S.;
Thompson, I.;
Donenberg, T.;
Hurley, J.;
Akbari, M. R.;
Narod, S. A.

Publication type:

Article

The risk of contralateral breast cancer in daughters of women with and without breast cancer.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 332, doi. 10.1111/cge.12604

By:

Narod, S.A.;
Kharazmi, E.;
Fallah, M.;
Sundquist, K.;
Hemminki, K.

Publication type:

Article

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 359, doi. 10.1111/cge.12608

By:

Koenighofer, M.;
Hung, C. Y.;
McCauley, J. L.;
Dallman, J.;
Back, E. J.;
Mihalek, I.;
Gripp, K. W.;
Sol‐Church, K.;
Rusconi, P.;
Zhang, Z.;
Shi, G‐X.;
Andres, D. A.;
Bodamer, O. A.

Publication type:

Article