Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Amani Albakri"'
Publikováno v:
Ophthalmic Genetics. 44:205-207
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c937cd11e433cb807ea3f5c95304568b
https://doi.org/10.1080/13816810.2022.2113540
https://doi.org/10.1080/13816810.2022.2113540
Autor:
Amani Albakri, Phattrawan Pisuchpen, Jenina E. Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P.‐W. Chiang, Anamaria Akapito Yomai, Donna McNear, Alex V. Levin
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eab36af6e18ed09ed7fed2d84538d4c
https://pubmed.ncbi.nlm.nih.gov/36595661
https://pubmed.ncbi.nlm.nih.gov/36595661
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 26(3)
To report the incidence and outcomes of microbial keratitis (MK) following cyclophotocoagulation (CPC) for treatment of refractory childhood glaucoma (CG) at a single center over a period of 6 years.In this cohort study, the medical records of childr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e459f85789730a64560492ec1de1e4
https://pubmed.ncbi.nlm.nih.gov/35525386
https://pubmed.ncbi.nlm.nih.gov/35525386
Autor:
Moustafa S. Magliyah, Amani AlBakri, Patrik Schatz, Adel Salah Alahmadi, Abdulrahman H Badawi
Publikováno v:
Ophthalmic Genetics. 42:96-98
Dear Editor,We present a child with high myopia and retinal degeneration associated with Poretti-Boltshauser syndrome which is a rare disorder of laminin synthesis. Ocular signs can be its first ma...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbe4a612d8bf8093ee3a3e9229123e5c
https://doi.org/10.1080/13816810.2020.1849316
https://doi.org/10.1080/13816810.2020.1849316
Autor:
Amani AlBakri, Arif O. Khan
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:229-231
Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. However, we have found that bia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a05d15996a1b06b2d5e22a19cfbad6
https://doi.org/10.1016/j.jaapos.2017.10.012
https://doi.org/10.1016/j.jaapos.2017.10.012
Publikováno v:
Ophthalmic Genetics. 38:138-142
Knobloch syndrome is a pathognomonic vitreo-retinopathy that includes zonular weakness, high myopia, and a distinct fundus appearance with tessellation out of proportion to the degree of myopia. Whether myopia in Knobloch syndrome is axial or lenticu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158c23e1a788428a93585c2b1a0cf1f1
https://doi.org/10.3109/13816810.2016.1164197
https://doi.org/10.3109/13816810.2016.1164197
Autor:
Amani AlBakri, John Chiang, Thomas M Glaser, Jenina E. Capasso, Anamaria Yomai, Sarina Kopinsky, Adele Schneider, Alex V. Levin
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:e49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1f446e54d21331c4a6622ec1f6ee5fe
https://doi.org/10.1016/j.jaapos.2018.07.179
https://doi.org/10.1016/j.jaapos.2018.07.179
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 19(6)
Children with retinal dystrophies often have nonspecific strabismus, but vertical incomitant deviations are uncommon. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7a6558e9465f4e535626e6bd3847ee
https://pubmed.ncbi.nlm.nih.gov/26691045
https://pubmed.ncbi.nlm.nih.gov/26691045
Autor:
Amani AlBakri, Arif O. Khan
Publikováno v:
Ophthalmic Genetics. 37:350-351
Autosomal recessive cornea plana (On-line Mendelian Inheritance in Man [MIM] #217300) is a pathognomonic phenotype (small flat cornea, variable corneal opacity, indistinct limbus, variable iris abn...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbdd7d49a347bc6c9f2ff27507935aae
https://doi.org/10.3109/13816810.2015.1059462
https://doi.org/10.3109/13816810.2015.1059462