Your browser doesn't support javascript.
loading
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias I; Hardcastle, Alison J; Gardner, Jessica C; Michaelides, Michel; Branham, Kari E; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Hélène; Birch, David; Vincent, Andrea L; Martorell, Loreto; Català Mora, Jaume; Kellner, Ulrich; Rüther, Klaus; Lorenz, Birgit; Preising, Markus N; Manfredini, Emanuela; Zarate, Yuri A; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G; Kohl, Susanne.
Afiliación
  • Wissinger B; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
  • Baumann B; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
  • Buena-Atienza E; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
  • Ravesh Z; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
  • Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
  • Stingl K; University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
  • Audo I; Center for Rare Eye Diseases, University of Tuebingen, 72076 Tuebingen, Germany.
  • Meunier I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
  • Bocquet B; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1423, 75571 Paris, France.
  • Traboulsi EI; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, 34091 Montpellier, France.
  • Hardcastle AJ; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, 34091 Montpellier, France.
  • Gardner JC; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195.
  • Michaelides M; Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom.
  • Branham KE; Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom.
  • Rosenberg T; Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom.
  • Andreasson S; Moorfields Eye Hospital, University College London, London EC1V 2PD, United Kingdom.
  • Dollfus H; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI 48109.
  • Birch D; Department of Ophthalmology, Kennedy Center, Rigshospitalet, 2600 Glostrup, Denmark.
  • Vincent AL; Department of Ophthalmology, University of Lund, 22362 Lund, Sweden.
  • Martorell L; Centre de référence pour les Affections Rares en Génétique Ophtalmologique, Filière de santé maladies rares SENSGENE, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
  • Català Mora J; Retina Foundation of the Southwest, Dallas, TX 75231.
  • Kellner U; Department of Ophthalmology, National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland 1023, New Zealand.
  • Rüther K; Molecular Genetics Department, Hopital Sant Joan de Déu Barcelona, 08950 Esplugues de Llobregat, Spain.
  • Lorenz B; Unitat de Distròfies Hereditàries de Retina, Hospital Sant Joan de Déu Barcelona, 08950 Esplugues de Llobregat, Spain.
  • Preising MN; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg, 53721 Siegburg, Germany.
  • Manfredini E; Augenarztpraxis, 10117 Berlin, Germany.
  • Zarate YA; Department of Ophthalmology, Justus-Liebig-University Giessen, 35385 Giessen, Germany.
  • Vijzelaar R; Universitäts-Augenklinik, University of Bonn, 53127 Bonn, Germany.
  • Zrenner E; Department of Ophthalmology, Justus-Liebig-University Giessen, 35385 Giessen, Germany.
  • Jacobson SG; Dipartimento di Medicina di Laboratorio, ASST Grande Ospedale Metropolitano Niguarda, 20162 Milan, Italy.
  • Kohl S; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202.
Proc Natl Acad Sci U S A ; 119(27): e2115538119, 2022 07 05.
Article en En | MEDLINE | ID: mdl-35759666
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Opsinas de Bastones Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Opsinas de Bastones Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article