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

Results: 15

Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2016, v. 90, n. 4, p. 291, doi. 10.1111/cge.12668
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
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
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
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
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
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
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
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
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
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
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
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
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