Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 4

Results: 15

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 359, doi. 10.1111/cge.13600

By:

Gambale, Antonella;
Russo, Roberta;
Andolfo, Immacolata;
Quaglietta, Lucia;
De Rosa, Gianluca;
Contestabile, Valentina;
De Martino, Lucia;
Genesio, Rita;
Pignataro, Piero;
Giglio, Sabrina;
Capasso, Mario;
Parasole, Rosanna;
Pasini, Barbara;
Iolascon, Achille

Publication type:

Article

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 376, doi. 10.1111/cge.13599

By:

Berberich, Amanda J.;
Mokashi, Arati;
McIntyre, Adam D.;
Robinson, John F.;
Cao, Henian;
Wang, Jian;
Hegele, Robert A.

Publication type:

Article

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 371, doi. 10.1111/cge.13611

By:

Jakubiuk‐Tomaszuk, Anna;
Murcia Pienkowski, Victor;
Zietkiewicz, Szymon;
Rydzanicz, Małgorzata;
Kosińska, Joanna;
Stawiński, Piotr;
Szumiński, Michał;
Płoski, Rafał

Publication type:

Article

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 380, doi. 10.1111/cge.13608

By:

Dai, Congling;
Zeng, Sicong;
Tan, Zhenhua;
Yang, Xiaowen;
Du, Juan;
Lu, Guangxiu;
Wang, Jian

Publication type:

Article

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 366, doi. 10.1111/cge.13605

By:

Karolak, Justyna A.;
Szafranski, Przemyslaw;
Kilner, David;
Patel, Chirag;
Scurry, Bonnie;
Kinning, Esther;
Chandler, Kate;
Jhangiani, Shalini N.;
Coban Akdemir, Zeynep H.;
Lupski, James R.;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 354, doi. 10.1111/cge.13603

By:

Ziegler, Alban;
Bader, Patricia;
McWalter, Kirsty;
Douglas, Ganka;
Houdayer, Clara;
Bris, Céline;
Rouleau, Stephanie;
Coutant, Régis;
Colin, Estelle;
Bonneau, Dominique

Publication type:

Article

The third family with Eiken syndrome.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 378, doi. 10.1111/cge.13601

By:

Jacob, Prince;
Soni, Jai P.;
Mortier, Geert;
Girisha, Katta M.

Publication type:

Article

French‐style genetics v. 2.0: The "e‐CohortE" project.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 330, doi. 10.1111/cge.13595

By:

Stoeklé, Henri‐Corto;
Bollet, Marc;
Cobat, Aurélie;
Charlier, Philippe;
Bloch, Oudy Ch.;
Flatot, Jérôme;
Draghi, Clément;
Tolyan, Valérie;
Hervé, Christian;
Desvaux, Pierre;
Uzan, Laurent;
Grynberg, Michaël;
Alcaïs, Alexandre;
Tolédano, Alain;
Vogt, Guillaume

Publication type:

Article

Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 341, doi. 10.1111/cge.13597

By:

Winckler, Pablo B.;
Silva, André M.S.;
Coimbra‐Neto, Antônio R.;
Carvalho, Elmano;
Cavalcanti, Eduardo B.U.;
Sobreira, Cláudia F.R.;
Marrone, Carlo D.;
Machado‐Costa, Marcela C.;
Carvalho, Alzira A.S.;
Feio, Raimunda H.F.;
Rodrigues, Cleonísio L.;
Gonçalves, Marcus V.M.;
Tenório, Renata B.;
Mendonça, Rodrigo H.;
Cotta, Ana;
Paim, Júlia F.O.;
Costa e Silva, Cynthia;
Aquino Cruz, Camila;
Bená, Marjory I.;
Betancur, Daniel F.A.

Publication type:

Article

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 317, doi. 10.1111/cge.13594

By:

Ader, Flavie;
De Groote, Pascal;
Réant, Patricia;
Rooryck‐Thambo, Caroline;
Dupin‐Deguine, Delphine;
Rambaud, Caroline;
Khraiche, Diala;
Perret, Claire;
Pruny, Jean François;
Mathieu‐Dramard, Michèle;
Gérard, Marion;
Troadec, Yann;
Gouya, Laurent;
Jeunemaitre, Xavier;
Van Maldergem, Lionel;
Hagège, Albert;
Villard, Eric;
Charron, Philippe;
Richard, Pascale

Publication type:

Article

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 309, doi. 10.1111/cge.13591

By:

Bizaoui, Varoona;
Michot, Caroline;
Baujat, Geneviève;
Amouroux, Cyril;
Baron, Sabine;
Capri, Yline;
Cohen‐Solal, Martine;
Collet, Corinne;
Dieux, Anne;
Geneviève, David;
Isidor, Bertrand;
Monnot, Sophie;
Rossi, Massimiliano;
Rothenbuhler, Anya;
Schaefer, Elise;
Cormier‐Daire, Valérie

Publication type:

Article

Novel TRRAP mutation causes autosomal dominant non‐syndromic hearing loss.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 300, doi. 10.1111/cge.13590

By:

Xia, Wenjun;
Hu, Jiongjiong;
Ma, Jing;
Huang, Jianbo;
Wang, Xu;
Jiang, Nan;
Zhang, Jin;
Ma, Zhaoxin;
Ma, Duan

Publication type:

Article

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 290, doi. 10.1111/cge.13588

By:

Li, Xin;
Yao, Ruen;
Tan, Xin;
Li, Niu;
Ding, Yu;
Li, Juan;
Chang, Guoying;
Chen, Yao;
Ma, Lizhuang;
Wang, Jian;
Fu, Lijun;
Wang, Xiumin

Publication type:

Article

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583

By:

Clarke, Lorne A.;
Giugliani, Roberto;
Guffon, Nathalie;
Jones, Simon A.;
Keenan, Hillary A.;
Munoz‐Rojas, Maria V.;
Okuyama, Torayuki;
Viskochil, David;
Whitley, Chester B.;
Wijburg, Frits A.;
Muenzer, Joseph

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 96, n. 4, p. 279, doi. 10.1111/cge.13402
Publication type:: Article