نتائج البحث

Novel RB1 germline mutation in a healthy man.

• Authors : Ramos-Dávila, Eugenia M.¹ (AUTHOR); Garza-Garza, Lucas A.¹ (AUTHOR); Villafuerte-de la Cruz, Rocío¹ (AUTHOR)

• Source: Ophthalmic Genetics. Aug2022, Vol. 43 Issue 4, p561-566. 6p.

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Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy.

• Authors : Choo, Charlene H.¹ (AUTHOR); Chung, Doug D.¹ (AUTHOR); Ledwitch, Kaitlyn V.^2,3 (AUTHOR)

• Source: Ophthalmic Genetics. Aug2022, Vol. 43 Issue 4, p530-533. 4p.

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Corneal ectasia associated with posterior lamellar opacification.

• Authors : Yung, Madeline¹ (AUTHOR); Chen, Angela C.¹ (AUTHOR); Chung, Doug D.¹ (AUTHOR)

• Source: Ophthalmic Genetics. Aug2021, Vol. 42 Issue 4, p486-492. 7p.

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Ocular manifestations in classic homocystinuria.

• Authors : Gus, Patrícia Ioschpe¹ (AUTHOR) ; Donis, Karina Carvalho² (AUTHOR); Marinho, Diane¹ (AUTHOR)

• Source: Ophthalmic Genetics. Feb2021, Vol. 42 Issue 1, p71-74. 4p.

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Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.

• Authors : Agresta, Antonio¹ (AUTHOR) ; Fasciani, Romina¹ (AUTHOR); Padua, Luca² (AUTHOR)

• Source: Ophthalmic Genetics. Jan/Feb2017, Vol. 38 Issue 1, p83-87. 5p.

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Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

• Authors : Hemptinne, Coralie; Willermain, François; de Jong, Casper

Subjects: RECESSIVE genes; GENETIC variation; ASPARTATE aminotransferase

• Source: Ophthalmic Genetics; Jun2023, Vol. 44 Issue 3, p318-320, 3p

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Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.

• Authors : Abdolrahimzadeh, Solmaz¹ (AUTHOR) ; Piraino, Domenica Carmen¹ (AUTHOR); Plateroti, Rocco¹ (AUTHOR)

• Source: Ophthalmic Genetics. Jun2016, Vol. 37 Issue 2, p214-216. 3p.

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Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

• Authors : Louati Y; Oculogenetic Unit, Jules-Gonin University Eye Hospital, Lausanne, Switzerland.; Vaclavik V

Subjects: Mutation*; Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/*diagnosis ; Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/*genetics Bietti Crystalline Dystrophy

• Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Dec; Vol. 42 (6), pp. 773-779. Date of Electronic Publication: 2021 Jul 26.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.

• Authors : Zhong J; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China.; You B

Subjects: Albinism, Ocular/Albinism, Ocular/Albinism, Ocular/*genetics ; Asian People/Asian People/Asian People/*genetics ; Eye Proteins/Eye Proteins/Eye Proteins/*genetics Dilution, Pigmentary; Ocular Albinism type 1

• Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Dec; Vol. 42 (6), pp. 717-724. Date of Electronic Publication: 2021 Aug 04.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population.

• Authors : Makita LS; Department of Ophthalmology, Faculty of Medical Sciences, University of State of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.; Muniz BC

Subjects: Interleukin-1beta/Interleukin-1beta/Interleukin-1beta/*genetics ; Macular Degeneration/Macular Degeneration/Macular Degeneration/*genetics ; Polymorphism, Single Nucleotide/Polymorphism, Single Nucleotide/Polymorphism, Single Nucleotide/*genetics

• Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Oct; Vol. 42 (5), pp. 533-538. Date of Electronic Publication: 2021 Jun 16.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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