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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R; Jacobson, Samuel G; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S; de Ravel, Thomy J L; Reiff, Charlotte M; Renner, Agnes B; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E Cumhur; Sieving, Paul A; Stanzial, Franco; Traboulsi, Elias I; Tsang, Stephen H; Varsanyi, Balázs; Weleber, Richard G; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd.
Afiliação
  • Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
  • Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
  • Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
  • Andreasson S; Department of Ophthalmology, University Hospital Lund, Lund, Sweden.
  • Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Ayuso C; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France.
  • Balousha G; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Benedicenti F; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Birch D; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine.
  • Bitoun P; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Blain D; Retina Foundation of the Southwest, Dallas, Texas, USA.
  • Bocquet B; Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France.
  • Branham K; National Eye Institute/NEI, Bethesda, Maryland, USA.
  • Català-Mora J; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France.
  • De Baere E; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.
  • Dollfus H; Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Barcelona, Esplugues de Llobregat, Spain.
  • Falana M; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Giorda R; CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Golovleva I; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
  • Gottlob I; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine.
  • Heckenlively JR; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
  • Jacobson SG; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden.
  • Jones K; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK.
  • Jägle H; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.
  • Janecke AR; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Kellner U; Retina Foundation of the Southwest, Dallas, Texas, USA.
  • Liskova P; Department of Ophthalmology, University of Regensburg, Regensburg, Germany.
  • Lorenz B; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Martorell-Sampol L; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.
  • Messias A; RetinaScience, Bonn, 53192, Germany.
  • Meunier I; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Belga Ottoni Porto F; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Papageorgiou E; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.
  • Plomp AS; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany.
  • de Ravel TJL; Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain.
  • Reiff CM; Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Renner AB; National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.
  • Rosenberg T; Sensgene Care Network, France.
  • Rudolph G; INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, Belo Horizonte, MG, Brazil.
  • Salati R; Department of Ophthalmology, University Hospital of Larissa, Mezourlo, Larissa, Greece.
  • Sener EC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Sieving PA; Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium.
  • Stanzial F; Augenarztpraxis am Stadttheater, Freiburg, Germany.
  • Traboulsi EI; Augenarztpraxis Regensburg, Regensburg, Germany.
  • Tsang SH; Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark.
  • Varsanyi B; University Eye Hospital, Ludwig Maximilians University, Munich, Germany.
  • Weleber RG; Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Bosisio Parini, Lecco, Italy.
  • Zobor D; Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey.
  • Stingl K; Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, USA.
  • Wissinger B; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
Hum Mutat ; 43(7): 832-858, 2022 07.
Article em En | MEDLINE | ID: mdl-35332618
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Canais de Cátion Regulados por Nucleotídeos Cíclicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Canais de Cátion Regulados por Nucleotídeos Cíclicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha