Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 4

Results: 15

ALTE and smoking exposure: which role of detoxification genes polymorphisms?

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 383, doi. 10.1111/cge.12788

By:

Filonzi, L.;
Nosetti, L.;
Magnani, C.;
Vaghi, M.;
Nganso Fenjiep, A. F.;
Marzano, F. N.

Publication type:

Article

Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 305, doi. 10.1111/cge.12808

By:

Sun, Y.‐M.;
Lu, C.;
Wu, Z.‐Y.

Publication type:

Article

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 378, doi. 10.1111/cge.12816

By:

Reis, L. M.;
Tyler, R. C.;
Weh, E.;
Hendee, K. E.;
Schilter, K. F.;
Phillips, J. A.;
Sequeira, S.;
Schinzel, A.;
Semina, E. V.

Publication type:

Article

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 366, doi. 10.1111/cge.12724

By:

Cetin, H.;
Wöhrer, A.;
Rittelmeyer, I.;
Gencik, M.;
Zulehner, G.;
Zimprich, F.;
Ströbel, T.;
Zimprich, A.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 90, n. 4, p. 291, doi. 10.1111/cge.12668
Publication type:: Article

Lentiginous phenotypes caused by diverse pathogenic genes ( SASH1 and PTPN11): clinical and molecular discrimination.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 372, doi. 10.1111/cge.12728

By:

Zhang, J.;
Cheng, R.;
Liang, J.;
Ni, C.;
Li, M.;
Yao, Z.

Publication type:

Article

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 351, doi. 10.1111/cge.12739

By:

Wallace, S.;
Guo, D.‐C.;
Regalado, E.;
Mellor‐Crummey, L.;
Bamshad, M.;
Nickerson, D.A.;
Dauser, R.;
Hanchard, N.;
Marom, R.;
Martin, E.;
Berka, V.;
Sharina, I.;
Ganesan, V.;
Saunders, D.;
Morris, S.A.;
Milewicz, D.M.

Publication type:

Article

Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 315, doi. 10.1111/cge.12735

By:

Ng, P.S.;
Wen, W.X.;
Fadlullah, M.Z.H.;
Yoon, S.Y.;
Lee, S.Y.;
Thong, M.K.;
Yip, C.H.;
Mohd Taib, N.A.;
Teo, S.H.

Publication type:

Article

Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 385, doi. 10.1111/cge.12837

By:

Pfeifer, K.;
Schürmann, P.;
Bogdanova, N.;
Neuhäuser, K.;
Kostovska, I. Maleva;
Plaseska‐Karanfilska, D.;
Park‐Simon, T.‐W.;
Schindler, D.;
Dörk, T.

Publication type:

Article

Identification of a founder BRCA1 mutation in the Moroccan population.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 361, doi. 10.1111/cge.12747

By:

Quiles, F.;
Teulé, À.;
Martinussen Tandstad, N.;
Feliubadaló, L.;
Tornero, E.;
Valle, J.;
Menéndez, M.;
Salinas, M.;
Wethe Rognlien, V.;
Velasco, A.;
Izquierdo, A.;
Capellá, G.;
Brunet, J.;
Lázaro, C.

Publication type:

Article

Hereditary truncating mutations of DNA repair and other genes in BRCA1/ BRCA2/ PALB2-negatively tested breast cancer patients.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 324, doi. 10.1111/cge.12748

By:

Lhota, F.;
Zemankova, P.;
Kleiblova, P.;
Soukupova, J.;
Vocka, M.;
Stranecky, V.;
Janatova, M.;
Hartmannova, H.;
Hodanova, K.;
Kmoch, S.;
Kleibl, Z.

Publication type:

Article

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 334, doi. 10.1111/cge.12775

By:

Boppudi, S.;
Bögershausen, N.;
Hove, H.B.;
Percin, E.F.;
Aslan, D.;
Dvorsky, R.;
Kayhan, G.;
Li, Y.;
Cursiefen, C.;
Tantcheva‐Poor, I.;
Toft, P.B.;
Bartsch, O.;
Lissewski, C.;
Wieland, I.;
Jakubiczka, S.;
Wollnik, B.;
Ahmadian, M.R.;
Heindl, L.M.;
Zenker, M.

Publication type:

Article

Diverse prognostic value of the GTn promoter polymorphism in squamous cell and adeno carcinoma of the oesophagus.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 343, doi. 10.1111/cge.12765

By:

Ghadban, T.;
Miro, J.T.;
Trump, F.;
Tsui, T.Y.;
Uzunoglu, F.G.;
Reeh, M.;
Gebauer, F.;
Bachmann, K.;
Wellner, U.;
Kalinin, V.;
Pantel, K.;
Izbicki, J.R.;
Vashist, Y.K.

Publication type:

Article

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 387, doi. 10.1111/cge.12842

By:

Zemankova, P.;
Lhota, F.;
Kleiblova, P.;
Soukupova, J.;
Vocka, M.;
Janatova, M.;
Kleibl, Z.

Publication type:

Article

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 293, doi. 10.1111/cge.12811

By:

Charzewska, A.;
Wierzba, J.;
Iżycka‐Świeszewska, E.;
Bekiesińska‐Figatowska, M.;
Jurek, M.;
Gintowt, A.;
Kłosowska, A.;
Bal, J.;
Hoffman‐Zacharska, D.

Publication type:

Article