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1969 1
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Page 1
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. ...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal …
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. Ganetzky RD, et al. Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4. Hum Mutat. 2019. PMID: 30763462 Free PMC article. Review.
We further describe the clinical and biochemical features of a new cohort of 14 kindreds with MT-ATP6 variants of uncertain significance. Despite extensive overlap in the heteroplasmy levels of MT-ATP6 variant carriers with and without a wide range of clinical symptoms, pr …
We further describe the clinical and biochemical features of a new cohort of 14 kindreds with MT-ATP6 variants of uncertain significa …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis.
Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB. Musleh AM, et al. Surv Ophthalmol. 2024 May-Jun;69(3):411-417. doi: 10.1016/j.survophthal.2023.11.010. Epub 2023 Dec 1. Surv Ophthalmol. 2024. PMID: 38042377 Review.
Retinitis pigmentosa (RP) is often undetected in its early stages. ...We included studies in the English language that used any ophthalmic imaging modality, such as OCT or fundus photography, used any AI technologies, had at least an expert in ophthalmology as a ref …
Retinitis pigmentosa (RP) is often undetected in its early stages. ...We included studies in the English language that used an …
[Retinitis pigmentosa - a review. Pathogenesis, guidelines for diagnostics and perspectives].
Zobor D, Zrenner E. Zobor D, et al. Ophthalmologe. 2012 May;109(5):501-14;quiz 515. doi: 10.1007/s00347-012-2555-6. Ophthalmologe. 2012. PMID: 22581051 Review. German.
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of hereditary retinal disorders, being one of the most common types of retinal degeneration with a prevalence of 1:4,000. ...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of hereditary retinal disorders, being one of th …
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
Ferreira PA. Ferreira PA. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2(SPEC):R259-67. doi: 10.1093/hmg/ddi272. Hum Mol Genet. 2005. PMID: 16244324 Free PMC article. Review.
X-linked retinitis pigmentosa type 3 (XlRP3) accounts up to 14% of all RP cases, higher than any other single RP locus identified to date, and considered to be the most severe of all RP cases. The XlRP3 encodes the retinitis pigmentosa GTPase re …
X-linked retinitis pigmentosa type 3 (XlRP3) accounts up to 14% of all RP cases, higher than any other single RP locus …
The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 Review.
The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. This review summarizes literature data and it describes our own experience with 27 patients with ring 14 syndrome. Clinically, the ring 14 syndrome …
The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. This review summarize …
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Kannabiran C. Kannabiran C. Ophthalmic Genet. 2020 Dec;41(6):513-517. doi: 10.1080/13816810.2020.1807025. Epub 2020 Aug 17. Ophthalmic Genet. 2020. PMID: 32799588 Review.
Those that were relevant to retinal disease or to the function of the SPATA7 gene were selected for review. RESULTS: The SPATA7 locus was mapped as LCA3 to chromosome 14, and the gene identified by screening of all genes in the refined genomic interval. Mutations in SPATA7 …
Those that were relevant to retinal disease or to the function of the SPATA7 gene were selected for review. RESULTS: The SPATA7 locus was ma …
Understanding the Roles of Very-Long-Chain Polyunsaturated Fatty Acids (VLC-PUFAs) in Eye Health.
Nwagbo U, Bernstein PS. Nwagbo U, et al. Nutrients. 2023 Jul 10;15(14):3096. doi: 10.3390/nu15143096. Nutrients. 2023. PMID: 37513514 Free PMC article. Review.
An imbalance of lipid subgroups is implicated in the progression of many retinal diseases, such as age-related macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy, and diet can play a key role in influencing these diseases' onset, progression, …
An imbalance of lipid subgroups is implicated in the progression of many retinal diseases, such as age-related macular degeneration (AMD), …
65 results