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X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review.

• Authors : Kuroda, Aoi¹ (AUTHOR) ; Namkoong, Ho² (AUTHOR); Iwami, Eri¹ (AUTHOR)

• Source: Respirology Case Reports. Dec2023, Vol. 11 Issue 12, p1-5. 5p.

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A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.

• Authors : Saito K; Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan.; Department of Endocrinology, Metabolism and Nephrology, Keio University School of Medicine, Tokyo, Japan.

Subjects: Homozygote*; Cyclic Nucleotide-Gated Cation Channels/Cyclic Nucleotide-Gated Cation Channels/Cyclic Nucleotide-Gated Cation Channels/*genetics ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*genetics

• Source: Scientific reports [Sci Rep] 2021 Feb 25; Vol. 11 (1), pp. 4681. Date of Electronic Publication: 2021 Feb 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Variante patogénica homocigótica del gen BBS10 en un paciente con síndrome de Bardet-Biedl.

• Authors : Ladino, Yaqueline^1,2 ; Galvis, Johanna^1,2; Yasnó, Diana³

• Source: Revista Biomedica. 2018, Vol. 38 Issue 3, p308-319. 12p. 1 Color Photograph, 1 Black and White Photograph, 3 Charts.

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CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance.

• Authors : Venturini, Giulia¹; Rose, Anna M.²; Shah, Amna Z.²

• Source: PLoS Genetics. Nov2012, Vol. 8 Issue 11, Special section p1-8. 8p. 1 Diagram, 3 Graphs.

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Retinitis pigmentosa: A brief overview.

• Authors : Natarajan, S.¹ editor@?o.in

• Source: Indian Journal of Ophthalmology. Sep2011, Vol. 59 Issue 5, p343-346. 4p.

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Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome.

• Authors : Aller, Elena^1,2 (AUTHOR); Jaijo, Teresa¹ (AUTHOR); Beneyto, Magdalena¹ (AUTHOR)

• Source: Ophthalmic Genetics. Sep2007, Vol. 28 Issue 3, p151-155. 5p. 2 Charts.

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Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator.

• Authors : Ortega, Joseph Thomas¹ (AUTHOR) ; Jastrzebska, Beata¹ (AUTHOR)

• Source: Pharmaceutics. Nov2021, Vol. 13 Issue 11, p1935. 1p.

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X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review

• Authors : Aoi Kuroda; Ho Namkoong; Eri Iwami

Subjects: bronchiectasis; inherited retinal dystrophy; primary ciliary dyskinesia

• Source: Respirology Case Reports, Vol 11, Iss 12, Pp n/a-n/a (2023)

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RP: Understanding the Problems and the Potential.

• Authors : Topiwala, M. A.¹; Shaker, Olfat²; Mousa, Shaker A.³

• Source: Review of Ophthalmology. Dec2008 Part 1 of 2, Vol. 15 Issue 12, p43-51. 6p.

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Retinitis pigmentosa and ocular motility alterations: new frontiers, review

• Authors : Arrico L; Grimaldi C; Cecchetti D ...

Subjects: retinitis pigmentosa; ocular motility; orthoptic evaluation

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