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Year Number of Results
1986 1
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2012 3
2013 1
2014 1
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2017 2
2019 1
2020 5
2021 3
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2023 3
2024 1

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Page 1
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J. Dąbkowska S, et al. Prenat Diagn. 2020 Apr;40(5):612-617. doi: 10.1002/pd.5654. Epub 2020 Feb 12. Prenat Diagn. 2020. PMID: 32003477 Review.
METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenat …
METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed b …
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. ...Subsequent segregation analysis and in silico predictions of pathogenicity resulted in a mole …
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogene …
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Talib M, et al. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
Ten patients were from a genetic isolate (GI). RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystrophy (n = 1; non-GI). ...All retinal layers were discernible in 13/21 patients (62%), with mild to moder …
Ten patients were from a genetic isolate (GI). RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dy …
Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.
Arslan U, Özmert E. Arslan U, et al. Adv Ther. 2020 May;37(5):2390-2412. doi: 10.1007/s12325-020-01308-y. Epub 2020 Apr 18. Adv Ther. 2020. PMID: 32303913
PURPOSE: To investigate whether the natural progression rate of retinitis pigmentosa can be decreased by subtenon autologous platelet-rich plasma application alone or combination with retinal electromagnetic stimulation. METHODS: The study includes retrospective ana …
PURPOSE: To investigate whether the natural progression rate of retinitis pigmentosa can be decreased by subtenon autologous p …
Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.
Ozmert E, Arslan U. Ozmert E, et al. Stem Cells Transl Med. 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. Stem Cells Transl Med. 2023. PMID: 37713598 Free PMC article.
To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton's jelly-derived mesenchymal stem cell (WJ-MSC) application alone or combination with Magnovision. The study included prospective analysis of 130 e …
To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton's jell …
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Chen ZJ, Lin KH, Lee SH, Shen RJ, Feng ZK, Wang XF, Huang XF, Huang ZQ, Jin ZB. Chen ZJ, et al. Clin Exp Ophthalmol. 2020 May;48(4):486-499. doi: 10.1111/ceo.13708. Epub 2020 Jan 20. Clin Exp Ophthalmol. 2020. PMID: 31872526
METHODS: We recruited a total of 60 unrelated Taiwanese families with IRD; most of them were retinitis pigmentosa. We employed TES to investigate 284 candidate genes. ...RESULTS: We successfully identified genetic causes in 32 families (detection rate of 53.3%). Amo …
METHODS: We recruited a total of 60 unrelated Taiwanese families with IRD; most of them were retinitis pigmentosa. We employed …
Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Meng X, Liu X, Li Y, Guo T, Yang L. Meng X, et al. Acta Ophthalmol. 2021 Jun;99(4):e447-e460. doi: 10.1111/aos.14626. Epub 2020 Oct 29. Acta Ophthalmol. 2021. PMID: 33124170 Free article.
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical …
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. MET …
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL, Gudiseva HV, Kishaba KT, Suk JJ, Verma R, Tadimeti K, Thorson JA, Ayyagari R. Ramkumar HL, et al. Genet Test Mol Biomarkers. 2017 Feb;21(2):66-73. doi: 10.1089/gtmb.2016.0251. Epub 2016 Dec 22. Genet Test Mol Biomarkers. 2017. PMID: 28005406 Free PMC article.
METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. ...
METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was perfo …
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak-Pfiffner F, Bahr A, Berger W. Gerth-Kahlert C, et al. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2822-2835. doi: 10.1167/iovs.18-25643. Invest Ophthalmol Vis Sci. 2019. PMID: 31260034 Free article.
PURPOSE: To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. METHODS: In a retrospective study, patients of two unrelated families were identified: family A, five patients aged 36 to 77 …
PURPOSE: To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP2 …
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K. Stingl K, et al. Br J Ophthalmol. 2022 Jun;106(6):831-838. doi: 10.1136/bjophthalmol-2020-318286. Epub 2021 Jan 20. Br J Ophthalmol. 2022. PMID: 33472769 Free PMC article.
BACKGROUND: Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. ...CONCLUSIONS: The presented protocols allow evaluating the individual spatial and temporal effects of gene therapy effects. Add …
BACKGROUND: Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutatio …
21 results