المؤلفون: Albar AA, Nowilaty SR, Ghazi NG

المصدر: Clinical Ophthalmology, Vol 2015, Iss default, Pp 73-76 (2015)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.dovepress.com/posterior-microphthalmos-and-papillomacular-fold-associated-cystic-cha-peer-reviewed-article-OPTH; https://doaj.org/toc/1177-5483

URL الوصول: https://doaj.org/article/ab2db23214d84caba0ed5c36667ef9de

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المؤلفون: Milibari D; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia.; Department of Ophthalmology, King Abdullah Medical City, Makkah 24211, Saudi Arabia., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia., Ba-Abbad R; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia.; Ocular Genetics Services, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia.

المصدر: Genes [Genes (Basel)] 2024 Jun 11; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Bardet-Biedl Syndrome*/genetics , Mutation*, Humans ; Male ; Saudi Arabia/epidemiology ; Female ; Child ; Adolescent ; Adult ; Child, Preschool ; Young Adult ; Pedigree ; Retrospective Studies ; Electroretinography ; Phenotype ; Visual Acuity ; Retina/pathology ; ADP-Ribosylation Factors

المؤلفون: Magliyah MS; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Department of Ophthalmology, Prince Mohammed Medical City, AlJouf, Saudi Arabia., Almarek F; Department of Ophthalmology, Imam Mohammed Bin Saud Islamic University, Riyadh, Saudi Arabia., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Al-Abdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alowain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Schatz P; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Department of Ophthalmology, Clinical Sciences, Skane University Hospital, Lund University, Lund, Sweden., Alfaadhel T; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; and.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio., Alsulaiman SM; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

المصدر: Retina (Philadelphia, Pa.) [Retina] 2023 Mar 01; Vol. 43 (3), pp. 498-505.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Detachment*/surgery , Retinal Perforations*/surgery , Myopia*/surgery , Eye Diseases, Hereditary*, Female ; Humans ; Retrospective Studies ; Phenotype ; Vitrectomy

SCR Disease Name: Stickler syndrome, type 1

المؤلفون: Alsubaie HF; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Magliyah MS, AlRaddadi O, AlZaid A, Nowilaty SR

المصدر: Retinal cases & brief reports [Retin Cases Brief Rep] 2023 Mar 01; Vol. 17 (2), pp. 206-211.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Detachment*/diagnosis , Eye Diseases, Hereditary* , Retinal Diseases*/diagnosis, Female ; Humans ; Familial Exudative Vitreoretinopathies ; Retrospective Studies ; Retina ; Fluorescein Angiography ; Collagen Type IX

SCR Disease Name: Stickler syndrome, type 1

المؤلفون: Alyousif NA; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. nyousif@kkesh.med.sa., Alsalamah AK; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Al-Dhibi HA; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

المصدر: Journal of ophthalmic inflammation and infection [J Ophthalmic Inflamm Infect] 2022 May 06; Vol. 12 (1), pp. 16. Date of Electronic Publication: 2022 May 06.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101553216 Publication Model: Electronic Cited Medium: Print ISSN: 1869-5760 (Print) Linking ISSN: 18695760 NLM ISO Abbreviation: J Ophthalmic Inflamm Infect Subsets: PubMed not MEDLINE

المؤلفون: Al-Johani S; Department of Ophthalmology, Imam Abdulrhman Bin Faisal University, Dammam, Kingdom of Saudi Arabia., Alabdullah A; King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia., Nowilaty SR; King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

المصدر: Middle East African journal of ophthalmology [Middle East Afr J Ophthalmol] 2022 Apr 30; Vol. 28 (4), pp. 260-262. Date of Electronic Publication: 2022 Apr 30 (Print Publication: 2021).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Medknow Publications and Media Country of Publication: India NLM ID: 101521797 Publication Model: eCollection Cited Medium: Internet ISSN: 0975-1599 (Electronic) Linking ISSN: 09749233 NLM ISO Abbreviation: Middle East Afr J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Hyperpigmentation* , Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/genetics, Child ; DEAD-box RNA Helicases/genetics ; Humans ; Mutation, Missense ; Pedigree ; RNA Splicing Factors/genetics ; Retina ; Saudi Arabia/epidemiology ; Tomography, Optical Coherence

المؤلفون: Jomar DE; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Albakri AS; Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Safieh LA; Genetic Laboratory, Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Genomics Research Department, King Fahad Medical City, Riyadh, Saudi Arabia., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

المصدر: American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2022 Apr 12; Vol. 26, pp. 101514. Date of Electronic Publication: 2022 Apr 12 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-9936 (Electronic) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE

المؤلفون: Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Mohammed Alghamdi J, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Zain Seidahmed M, Alkuraya FS

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 966.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Alsalamah AK; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Khan AO; Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western University, Cleveland, Ohio., Bakar AA; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Ophthalmology Service, King Khaled Hospital, Najran, Saudi Arabia., Schatz P; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University, Lund, Sweden., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address: snowilaty@kkesh.med.sa.

المصدر: Ophthalmology. Retina [Ophthalmol Retina] 2021 Sep; Vol. 5 (9), pp. 918-927. Date of Electronic Publication: 2021 Apr 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published by Elsevier Inc. on behalf of American Academy of Ophthalmology Country of Publication: United States NLM ID: 101695048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-6530 (Electronic) Linking ISSN: 24686530 NLM ISO Abbreviation: Ophthalmol Retina Subsets: MEDLINE

مواضيع طبية MeSH: Eye Diseases, Hereditary/*complications , Macula Lutea/*diagnostic imaging , Retinal Degeneration/*complications , Vision Disorders/*complications, Adolescent ; Adult ; Child ; Child, Preschool ; Electroretinography ; Eye Diseases, Hereditary/diagnosis ; Female ; Fibrosis/diagnosis ; Fibrosis/etiology ; Fluorescein Angiography/methods ; Fundus Oculi ; Humans ; Infant ; Male ; Retinal Degeneration/diagnosis ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Vision Disorders/diagnosis ; Young Adult

SCR Disease Name: Enhanced S-Cone Syndrome