Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 6

Results: 23

<italic>ZNF687</italic> mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1240, doi. 10.1111/cge.13247
By:
- Divisato, G.;
- Scotto di Carlo, F.;
- Petrillo, N.;
- Esposito, T.;
- Gianfrancesco, F.
Publication type:
Article
2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1199, doi. 10.1111/cge.13246
By:
- Machado, R. A.;
- Nogueira, E. N.;
- Martelli‐Júnior, H.;
- Reis, S. R.;
- Persuhn, D. C.;
- Coletta, R. D.
Publication type:
Article
Regulatory network analysis of <italic>LINC00472</italic>, a long noncoding RNA downregulated by DNA hypermethylation in colorectal cancer.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1189, doi. 10.1111/cge.13245
By:
- Chen, L.;
- Zhang, W.;
- Li, D. Y.;
- Wang, X.;
- Tao, Y.;
- Zhang, Y.;
- Dong, C.;
- Zhao, J.;
- Zhang, L.;
- Zhang, X.;
- Guo, J.;
- Liao, Q.
Publication type:
Article
Molecular and clinical studies in 8 patients with Temple syndrome.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1179, doi. 10.1111/cge.13244
By:
- Gillessen‐Kaesbach, G.;
- Albrecht, B.;
- Eggermann, T.;
- Elbracht, M.;
- Mitter, D.;
- Morlot, S.;
- van Ravenswaaij‐Arts, C. M. A.;
- Schulz, S.;
- Strobl‐Wildemann, G.;
- Buiting, K.;
- Beygo, J.
Publication type:
Article
Truncating variants of the <italic>DLG4</italic> gene are responsible for intellectual disability with marfanoid features.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1172, doi. 10.1111/cge.13243
By:
- Moutton, S.;
- Bruel, A.‐L.;
- Assoum, M.;
- Chevarin, M.;
- Sarrazin, E.;
- Goizet, C.;
- Guerrot, A.‐M.;
- Charollais, A.;
- Charles, P.;
- Heron, D.;
- Faudet, A.;
- Houcinat, N.;
- Vitobello, A.;
- Tran‐Mau‐Them, F.;
- Philippe, C.;
- Duffourd, Y.;
- Thauvin‐Robinet, C.;
- Faivre, L.
Publication type:
Article
Exome sequencing reveals three homozygous missense variants in <italic>SNRPA</italic> in two sisters with syndromic intellectual disability.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1229, doi. 10.1111/cge.13235
By:
- Rangel‐Sosa, M. M.;
- Figuera‐Villanueva, L. E.;
- González‐Ramos, I. A.;
- Pérez‐Páramo, Y. X.;
- Martínez‐Jacobo, L. A.;
- Arnaud‐López, L.;
- Nastasi‐Catanese, J. A.;
- Rivas‐Estilla, A. M.;
- Galán‐Huerta, K. A.;
- Rojas‐Martínez, A.;
- Ortiz‐López, R.;
- Córdova‐Fletes, C.
Publication type:
Article
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1210, doi. 10.1111/cge.13239
By:
- Patel, N.;
- Khan, A. O.;
- Alsahli, S.;
- Abdel‐Salam, G.;
- Nowilaty, S. R.;
- Mansour, A. M.;
- Nabil, A.;
- Al‐Owain, M.;
- Sogati, S.;
- Salih, M. A.;
- Kamal, A. M.;
- Alsharif, H.;
- Alsaif, H. S.;
- Alzahrani, S. S.;
- Abdulwahab, F.;
- Ibrahim, N.;
- Hashem, M.;
- Faquih, T.;
- Shah, Z. A.;
- Abouelhoda, M.
Publication type:
Article
<italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1205, doi. 10.1111/cge.13238
By:
- Bruel, A.‐L.;
- Levy, J.;
- Elenga, N.;
- Defo, A.;
- Favre, A.;
- Lucron, H.;
- Capri, Y.;
- Perrin, L.;
- Passemard, S.;
- Vial, Y.;
- Tabet, A.‐C.;
- Faivre, L.;
- Thauvin‐Robinet, C.;
- Verloes, A.
Publication type:
Article
The D313Y genotype—Pathogenic mutation or polymorphism?
Published in:
2018
By:
- Oder, D.;
- Wanner, C.;
- Nordbeck, P.
Publication type:
Letter to the Editor
A <italic>B3GALT6</italic> variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1148, doi. 10.1111/cge.13236
By:
- Ben‐Mahmoud, A.;
- Ben‐Salem, S.;
- Al‐Sorkhy, M.;
- John, A.;
- Ali, B. R.;
- Al‐Gazali, L.
Publication type:
Article
Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1234, doi. 10.1111/cge.13240
By:
- Fattori, F.;
- Fiorillo, C.;
- Rodolico, C.;
- Tasca, G.;
- Verardo, M.;
- Bellacchio, E.;
- Pizzi, S.;
- Ciolfi, A.;
- Fagiolari, G.;
- Lupica, A.;
- Broda, P.;
- Pedemonte, M.;
- Moggio, M.;
- Bruno, C.;
- Tartaglia, M.;
- Bertini, E.;
- D'Amico, A.
Publication type:
Article
<italic>EFNB2</italic> haploinsufficiency causes a syndromic neurodevelopmental disorder.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1141, doi. 10.1111/cge.13234
By:
- Lévy, J.;
- Haye, D.;
- Marziliano, N.;
- Casu, G.;
- Guimiot, F.;
- Dupont, C.;
- Teissier, N.;
- Benzacken, B.;
- Gressens, P.;
- Pipiras, E.;
- Verloes, A.;
- Tabet, A.‐C.
Publication type:
Article
p.D313Y is more than just a polymorphism in Fabry disease.
Published in:
2018
By:
- du Moulin, M.;
- Muschol, N.
Publication type:
Letter to the Editor
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal <italic>TUBB</italic> gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1223, doi. 10.1111/cge.13232
By:
- Dentici, M. L.;
- Terracciano, A.;
- Bellacchio, E.;
- Capolino, R.;
- Novelli, A.;
- Digilio, M. C.;
- Dallapiccola, B.
Publication type:
Article
Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1159, doi. 10.1111/cge.13230
By:
- Fan, Y.;
- Liu, A.;
- Wei, C.;
- Yang, H.;
- Chang, X.;
- Wang, S.;
- Yuan, Y.;
- Bonnemann, C.;
- Wu, Q.;
- Wu, X.;
- Xiong, H.
Publication type:
Article
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous <italic>GNB5</italic> variants.
Published in:
2018
By:
- Vernon, H.;
- Cohen, J.;
- De Nittis, P.;
- Fatemi, A.;
- McClellan, R.;
- Goldstein, A.;
- Malerba, N.;
- Guex, N.;
- Reymond, A.;
- Merla, G.
Publication type:
Letter to the Editor
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency.
Published in:
2018
By:
- Monies, D.;
- Anabrees, J.;
- Ibrahim, N.;
- Elbardisy, H.;
- Abouelhoda, M.;
- Meyer, B. F.;
- Alkuraya, F. S.
Publication type:
Letter to the Editor
Prenatal detection of uniparental disomy of chromosome 2 carrying a <italic>CHRND</italic> pathogenic variant that causes lethal multiple pterygium syndrome.
Published in:
2018
By:
- Shen, W.;
- Young, B. A.;
- Bosworth, M.;
- Wright, K. E.;
- Lamb, A. N.;
- Ji, Y.
Publication type:
Letter to the Editor
Novel <italic>NALCN</italic> biallelic truncating mutations in siblings with IHPRF1 syndrome.
Published in:
2018
By:
- Angius, A.;
- Cossu, S.;
- Uva, P.;
- Oppo, M.;
- Onano, S.;
- Persico, I.;
- Fotia, G.;
- Atzeni, R.;
- Cuccuru, G.;
- Asunis, M.;
- Cucca, F.;
- Pruna, D.;
- Crisponi, L.
Publication type:
Letter to the Editor
Axenfeld‐Rieger syndrome.
Published in:
2018
By:
- Seifi, M.;
- Walter, M. A.
Publication type:
Letter to the Editor
Management of Leigh syndrome: Current status and new insights.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1131, doi. 10.1111/cge.13139
By:
- Chen, L.;
- Cui, Y.;
- Jiang, D.;
- Ma, C. Y.;
- Tse, H.‐F.;
- Hwu, W.‐L.;
- Lian, Q.
Publication type:
Article
Cancer gene‐panel testing identifies two loss‐of‐function alleles in PALB2 and PTEN.
Published in:
2018
By:
- Avgerinou, C.;
- Fostira, F.;
- Economopoulou, P.;
- Psyrri, A.
Publication type:
Letter to the Editor
Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1121, doi. 10.1111/cge.13113
Publication type:
Article