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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters, Frauke; Ascari, Giulia; Dannhausen, Katharina; Nikopoulos, Konstantinos; Peelman, Frank; Karlstetter, Marcus; Xu, Mingchu; Brachet, Cécile; Meunier, Isabelle; Tsilimbaris, Miltiadis K; Tsika, Chrysanthi; Blazaki, Styliani V; Vergult, Sarah; Farinelli, Pietro; Van Laethem, Thalia; Bauwens, Miriam; De Bruyne, Marieke; Chen, Rui; Langmann, Thomas; Sui, Ruifang; Meire, Françoise; Rivolta, Carlo; Hamel, Christian P; Leroy, Bart P; De Baere, Elfride.
Afiliação
  • Coppieters F; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium; pxlence BVBA, 9200 Dendermonde, Belgium. Electronic address: frauke.coppieters@ugent.be.
  • Ascari G; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Dannhausen K; Department of Ophthalmology, University of Cologne, 50931 Cologne, Germany.
  • Nikopoulos K; Unit of Medical Genetics, Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland.
  • Peelman F; Flanders Institute for Biotechnology (VIB), Department of Medical Protein Research, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • Karlstetter M; Department of Ophthalmology, University of Cologne, 50931 Cologne, Germany; Therapeutic Research Group Ophthalmology, Bayer Pharma AG, 42096 Wuppertal, Germany.
  • Xu M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Brachet C; Pediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, 1000 Brussels, Belgium.
  • Meunier I; Genetic Sensory Diseases, Centre Hospitalier Universitaire de Montpellier, 34295 Montpellier, France; Université Montpellier, 34090 Montpellier, France; INSERM U1051, Institut des Neurosciences de Montpellier, 34091 Montpellier, France.
  • Tsilimbaris MK; Department of Ophthalmology, Medical School, University of Crete, 71409 Heraklion, Greece.
  • Tsika C; Department of Ophthalmology, Medical School, University of Crete, 71409 Heraklion, Greece.
  • Blazaki SV; Department of Ophthalmology, Medical School, University of Crete, 71409 Heraklion, Greece.
  • Vergult S; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Farinelli P; Unit of Medical Genetics, Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland.
  • Van Laethem T; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Bauwens M; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • De Bruyne M; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Langmann T; Department of Ophthalmology, University of Cologne, 50931 Cologne, Germany.
  • Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 100730 Beijing, China.
  • Meire F; Department of Ophthalmology, Hôpital Universitaire des Enfants Reine Fabiola, 1000 Brussels, Belgium.
  • Rivolta C; Unit of Medical Genetics, Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland.
  • Hamel CP; Genetic Sensory Diseases, Centre Hospitalier Universitaire de Montpellier, 34295 Montpellier, France; Université Montpellier, 34090 Montpellier, France; INSERM U1051, Institut des Neurosciences de Montpellier, 34091 Montpellier, France.
  • Leroy BP; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium; Department of Ophthalmology, Ghent University Hospital and Ghent University, 9000 Ghent, Belgium; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium. Electronic address: elfride.debaere@ugent.be.
Am J Hum Genet ; 99(2): 470-80, 2016 Aug 04.
Article em En | MEDLINE | ID: mdl-27486781
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Fatores de Troca do Nucleotídeo Guanina / Alelos / Ubiquitinação / Distrofias Retinianas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Fatores de Troca do Nucleotídeo Guanina / Alelos / Ubiquitinação / Distrofias Retinianas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos