نتائج البحث

RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.

• Authors : Bedoukian, Emma C.^1,2 (AUTHOR); O'Neil, Erin C.^1,3 (AUTHOR); Aleman, Tomas S.^1,3,4 (AUTHOR)

• Source: Ophthalmic Genetics. Aug2022, Vol. 43 Issue 4, p555-560. 6p.

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Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.

• Authors : Oishi, Noriko¹ (AUTHOR); Kubota, Daiki¹ (AUTHOR); Nakamoto, Kenji² (AUTHOR)

• Source: Ophthalmic Genetics. Jun2021, Vol. 42 Issue 3, p304-311. 8p.

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High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

• Authors : Kubota, Daiki¹ (AUTHOR); Matsumoto, Kaori^1,2 (AUTHOR); Hayashi, Mika¹ (AUTHOR)

• Source: Ophthalmic Genetics. Dec2020, Vol. 41 Issue 6, p629-638. 10p.

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Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

• Authors : Sanchez Tocino, Hortensia¹ (AUTHOR) ; Diez Montero, Cecilia² (AUTHOR); Villanueva Gómez, Ana¹ (AUTHOR)

• Source: Ophthalmic Genetics. Apr2019, Vol. 40 Issue 2, p170-176. 7p.

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Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

• Authors : Aleman, Tomas S.¹ (AUTHOR) ; Brodie, Frank¹ (AUTHOR); Garvin, Christopher² (AUTHOR)

• Source: Ophthalmic Genetics. Dec2015, Vol. 36 Issue 4, p339-348. 10p.

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Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7).

• Authors : Hugosson, Therése^1,2 (AUTHOR); Gränse, Lotta² (AUTHOR); Ponjavic, Vesna² (AUTHOR)

• Source: Ophthalmic Genetics. Mar2009, Vol. 30 Issue 1, p1-6. 6p. 1 Color Photograph, 1 Diagram, 3 Charts, 2 Graphs.

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Mutation Screen of the Membrane-Type Frizzled-Related Protein ( MFRP ) Gene in Patients with Inherited Retinal Degenerations.

• Authors : Pauer, Gayle J. T.¹ (AUTHOR); Xi, Quansheng¹ (AUTHOR); Zhang, Kang² (AUTHOR)

• Source: Ophthalmic Genetics. Dec2005, Vol. 26 Issue 4, p157-161. 5p. 1 Diagram, 1 Chart.

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Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsingene in a family with autosomal dominant retinitis pigmentosa.

• Authors : Reig, Carlos; Trujillo, José M.; Martinez-Gimeno, Maria

• Source: Ophthalmic Genetics. Jun2000, Vol. 21 Issue 2, p79. 9p. 2 Black and White Photographs, 3 Diagrams, 3 Charts.

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Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and PRGR-ORF 15 genes.

• Authors : Andéasson, Sten¹ ; Breuer, Debra K.^2,3; Eksandh, Louise¹

• Source: Ophthalmic Genetics. Dec2003, Vol. 24 Issue 4, p215-223. 9p. 1 Color Photograph, 2 Diagrams, 2 Charts, 1 Graph.

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Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243AG mutation

• Authors : Noriko Oishi; Daiki Kubota; Hiroshi Takahashi

Subjects: 0301 basic medicine; Adult; medicine.medical_specialty

• Source: Ophthalmic genetics. 42(3)

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