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

Results: 23

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

<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

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

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

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

<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

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

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

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

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

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