Association of Steroid 5&#945;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor, Rachel L; Arno, Gavin; Poulter, James A; Khan, Kamron N; Morarji, Jiten; Hull, Sarah; Pontikos, Nikolas; Rueda Martin, Antonio; Smith, Katherine R; Ali, Manir; Toomes, Carmel; McKibbin, Martin; Clayton-Smith, Jill; Grunewald, Stephanie; Michaelides, Michel; Moore, Anthony T; Hardcastle, Alison J; Inglehearn, Chris F; Webster, Andrew R; Black, Graeme C

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor, Rachel L; Arno, Gavin; Poulter, James A; Khan, Kamron N; Morarji, Jiten; Hull, Sarah; Pontikos, Nikolas; Rueda Martin, Antonio; Smith, Katherine R; Ali, Manir; Toomes, Carmel; McKibbin, Martin; Clayton-Smith, Jill; Grunewald, Stephanie; Michaelides, Michel; Moore, Anthony T; Hardcastle, Alison J; Inglehearn, Chris F; Webster, Andrew R; Black, Graeme C.

Afiliación

Taylor RL; Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trus
Arno G; UCL Institute of Ophthalmology, University College London, London, England.
Poulter JA; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England.
Khan KN; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England 5Department of Ophthalmology, St. James's University Hospital, Leeds, England.
Morarji J; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, England.
Hull S; UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England.
Pontikos N; UCL Genetics Institute, University College London, London, England.
Rueda Martin A; Genomics England, Queen Mary University of London, London, England.
Smith KR; Genomics England, Queen Mary University of London, London, England.
Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England.
Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England.
McKibbin M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England 5Department of Ophthalmology, St. James's University Hospital, Leeds, England.
Clayton-Smith J; Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trus
Grunewald S; Metabolic Unit, Great Ormond Street Hospital, London, England11Institute for Child Health, University College London, London, England.
Michaelides M; UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England.
Moore AT; UCL Institute of Ophthalmology, University College London, London, England 12Department of Ophthalmology, University of California, San Francisco, Medical School, San Francisco.
Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England.
Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England.
Webster AR; UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England.
Black GC; Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trus

JAMA Ophthalmol ; 135(4): 339-347, 2017 04 01.

Article en En | MEDLINE | ID: mdl-28253385

Asunto(s)

3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética; Trastornos Congénitos de Glicosilación/genética; Proteínas de la Membrana/genética; Mutación; Distrofias Retinianas/genética; Trastornos de la Visión/genética; Adolescente; Trastornos Congénitos de Glicosilación/diagnóstico; Análisis Mutacional de ADN; Electrorretinografía; Exoma/genética; Femenino; Angiografía con Fluoresceína; Genoma/genética; Humanos; Masculino; Linaje; Fenotipo; Distrofias Retinianas/diagnóstico; Análisis de Secuencia de ADN; Trastornos de la Visión/diagnóstico; Agudeza Visual/fisiología; Pruebas del Campo Visual; Campos Visuales; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa / Trastornos de la Visión / Trastornos Congénitos de Glicosilación / Distrofias Retinianas / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: JAMA Ophthalmol Año: 2017 Tipo del documento: Article

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