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

Results: 15

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
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
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
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
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