المؤلفون: Moore, Anthony, Richards, AJ, Fincham, GS, McNinch, A, Hill, D, Poulson, AV, Castle, B, Lees, MM, Moore, AT, Scott, JD, Snead, MP

URL الوصول: https://escholarship.org/uc/item/38p80229

المؤلفون: Alexander P; Addenbrooke's Hospital, Cambridge, United Kingdom., Fincham GS; Addenbrooke's Hospital, Cambridge, United Kingdom., Brown S; Addenbrooke's Hospital, Cambridge, United Kingdom., Collins D; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom., McNinch AM; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom., Poulson AV; Addenbrooke's Hospital, Cambridge, United Kingdom., Richards A; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom mps34@cam.ac.uk., Martin H; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom mps34@cam.ac.uk., Wareham N; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom mps34@cam.ac.uk., Snead MP; University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom mps34@cam.ac.uk.

المصدر: The New England journal of medicine [N Engl J Med] 2023 Apr 06; Vol. 388 (14), pp. 1337-1339.

نوع المنشور: Letter

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Arthritis* , Connective Tissue Diseases* , Hearing Loss, Sensorineural* , Retinal Detachment*/prevention & control, Humans ; Ophthalmologic Surgical Procedures/methods ; Clinical Protocols

SCR Disease Name: Stickler syndrome, type 1

المؤلفون: Alexander P; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., Gomersall P; Ear, Nose and Throat (ENT) West Wing, Oxford Auditory Implant Programme, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Stancel-Lewis J; NHS England and NHS Improvement, Wellington House 33-155 Waterloo Road, London, SE1 8UG, UK., Fincham GS; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., Poulson A; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., Richards A; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.; Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., McNinch A; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.; Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., Baguley DM; National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham, NG1 5DU, UK. David.baguley@nottingham.ac.uk.; Hearing Sciences, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham, NG7 2UH, UK. David.baguley@nottingham.ac.uk.; Nottingham Audiology Services, Nottingham University NHS Trust, Nottingham, NG1 3DU, UK. David.baguley@nottingham.ac.uk.; Nottingham Biomedical Research Centre, Ropewalk House, 113 Ropewalk, Nottingham, NG1 5DU, UK. David.baguley@nottingham.ac.uk., Snead M; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.

المصدر: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2021 Jul; Vol. 278 (7), pp. 2261-2268. Date of Electronic Publication: 2020 Sep 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 9002937 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1434-4726 (Electronic) Linking ISSN: 09374477 NLM ISO Abbreviation: Eur Arch Otorhinolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: Connective Tissue Diseases* , Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/genetics , Retinal Detachment*, Animals ; Arthritis ; Collagen Type XI/genetics ; Female ; Mice ; Mutation

SCR Disease Name: Stickler syndrome, type 1

المؤلفون: Fincham GS; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., James S; Department of Histopathology, Coventry Hospital, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, United Kingdom., Spickett C; Department of Pathology, University of Cambridge, Cambridge, United Kingdom., Hollingshead M; Department of Pathology, University of Cambridge, Cambridge, United Kingdom., Thrasivoulou C; Research Department of Cell and Developmental Biology, University College London, London, United Kingdom., Poulson AV; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., McNinch A; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Pathology, University of Cambridge, Cambridge, United Kingdom., Richards A; Department of Pathology, University of Cambridge, Cambridge, United Kingdom; Regional Molecular Genetic Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Snead D; Department of Histopathology, Coventry Hospital, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, United Kingdom., Limb GA; Institute of Ophthalmology, University College London, London, United Kingdom., Snead MP; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Pathology, University of Cambridge, Cambridge, United Kingdom. Electronic address: mps34@cam.ac.uk.

المصدر: Ophthalmology [Ophthalmology] 2018 Feb; Vol. 125 (2), pp. 227-236. Date of Electronic Publication: 2017 Sep 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Basement Membrane/*diagnostic imaging , Collagen/*metabolism , Vitreous Body/*pathology , Vitreous Detachment/*diagnosis, Adult ; Aged ; Aged, 80 and over ; Basement Membrane/chemistry ; Female ; Humans ; Imaging, Three-Dimensional ; Immunohistochemistry ; Male ; Microscopy, Acoustic ; Microscopy, Confocal ; Middle Aged ; Prospective Studies ; Vitrectomy ; Vitreous Body/surgery ; Vitreous Detachment/surgery

المؤلفون: Spickett C; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK., Hysi P; Academic Unit Ophthalmology, King's College London, London, SE1 7EH, UK., Hammond CJ; Academic Unit Ophthalmology, King's College London, London, SE1 7EH, UK., Prescott A; College of Life Sciences, University of Dundee, Dundee, DD1 5EH, Scotland, UK., Fincham GS; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK., Poulson AV; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK., McNinch AM; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.; Regional Molecular Genetics Laboratory, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK., Richards AJ; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK. ar204@cam.ac.uk.; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK. ar204@cam.ac.uk.; Regional Molecular Genetics Laboratory, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK. ar204@cam.ac.uk., Snead MP; Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, CB2 0QQ, UK.

المصدر: Human mutation [Hum Mutat] 2016 Oct; Vol. 37 (10), pp. 1085-96. Date of Electronic Publication: 2016 Aug 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing* , Mutation*, Collagen Type II/*genetics , Eye Diseases, Hereditary/*genetics , Retinal Detachment/*genetics, Cells, Cultured ; Exons ; Genetic Predisposition to Disease ; Humans ; Introns ; Sequence Analysis, DNA

SCR Disease Name: Rhegmatogenous Retinal Detachment, Autosomal Dominant

المؤلفون: Sergouniotis PI; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK., Fincham GS; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK., McNinch AM; 1] Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK [2] Department of Pathology, University of Cambridge, Cambridge, UK., Spickett C; Department of Pathology, University of Cambridge, Cambridge, UK., Poulson AV; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK., Richards AJ; 1] Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK [2] Department of Pathology, University of Cambridge, Cambridge, UK., Snead MP; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Cambridge, UK.

المصدر: Eye (London, England) [Eye (Lond)] 2015 Apr; Vol. 29 (4), pp. 475-82. Date of Electronic Publication: 2015 Jan 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5454 (Electronic) Linking ISSN: 0950222X NLM ISO Abbreviation: Eye (Lond) Subsets: MEDLINE

مواضيع طبية MeSH: Cleft Palate/*genetics , Collagen Diseases/*genetics , Collagen Type II/*genetics , Dwarfism/*genetics , Eye Diseases/*pathology , Face/*abnormalities , Hyaline Membrane Disease/*genetics , Osteochondrodysplasias/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cleft Palate/pathology ; Collagen Diseases/pathology ; Dwarfism/pathology ; Eye Diseases/etiology ; Eye Diseases/genetics ; Face/pathology ; Female ; Hearing Disorders/etiology ; Humans ; Hyaline Membrane Disease/pathology ; Male ; Mutation ; Osteochondrodysplasias/pathology ; Phenotype ; Young Adult

SCR Disease Name: Kniest dysplasia

المؤلفون: Fincham GS; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Pasea L; Centre for Applied Medical Statistics (CAMS), University of Cambridge, Cambridge, United Kingdom., Carroll C; School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, United Kingdom., McNinch AM; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Pathology, University of Cambridge, Cambridge, United Kingdom., Poulson AV; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Richards AJ; Department of Pathology, University of Cambridge, Cambridge, United Kingdom; Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Scott JD; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Snead MP; Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Pathology, University of Cambridge, Cambridge, United Kingdom. Electronic address: mps34@cam.ac.uk.

المصدر: Ophthalmology [Ophthalmology] 2014 Aug; Vol. 121 (8), pp. 1588-97. Date of Electronic Publication: 2014 May 01.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Cryotherapy*, Arthritis/*complications , Connective Tissue Diseases/*complications , Hearing Loss, Sensorineural/*complications , Retinal Detachment/*prevention & control, Adolescent ; Adult ; Arthritis/diagnosis ; Arthritis/genetics ; Clinical Protocols ; Collagen Type II/genetics ; Connective Tissue Diseases/diagnosis ; Connective Tissue Diseases/genetics ; DNA Mutational Analysis ; Female ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/genetics ; Humans ; Male ; Pedigree ; Retinal Detachment/complications ; Retinal Detachment/diagnosis ; Retinal Detachment/etiology ; Retinal Detachment/genetics ; Retrospective Studies ; Risk Factors ; Time Factors ; Young Adult

SCR Disease Name: Stickler syndrome, type 1

المؤلفون: Richards AJ; Department of Pathology, University of Cambridge, Cambridge, UK., Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP

المصدر: Journal of medical genetics [J Med Genet] 2013 Nov; Vol. 50 (11), pp. 765-71. Date of Electronic Publication: 2013 Aug 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing* , Mutation*, Collagen Type XI/*genetics , Connective Tissue Diseases/*genetics , Hearing Loss/*genetics , Vitreous Detachment/*genetics, Adult ; Amino Acid Sequence ; Child, Preschool ; Collagen Type XI/deficiency ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Pedigree

SCR Disease Name: Stickler syndrome, type 2