Similar articles for PMID: 7880786

Year	Number of Results
1991	4
1992	2
1993	8
1994	12
1995	11
1996	14
1997	9
1998	10
1999	2
2000	6
2001	5
2002	4
2003	8
2004	3
2005	5
2006	7
2007	7
2008	3
2009	7
2010	3
2011	1
2012	1
2016	1
2017	2
2020	1
2021	1
2022	1
2023	1
2024	0

1

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Br J Ophthalmol. 1995 Jan;79(1):28-34. doi: 10.1136/bjo.79.1.28. Br J Ophthalmol. 1995. PMID: 7880786 Free PMC article.

2

Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report.

Pappaterra-Rodriguez MC, Muns SM, Ayala Rodríguez SC, Requejo Figueroa GA, Izquierdo N, Oliver AL. Pappaterra-Rodriguez MC, et al. Cureus. 2022 Dec 25;14(12):e32930. doi: 10.7759/cureus.32930. eCollection 2022 Dec. Cureus. 2022. PMID: 36699790 Free PMC article.

3

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K. Oishi A, et al. Genes (Basel). 2021 Nov 18;12(11):1817. doi: 10.3390/genes12111817. Genes (Basel). 2021. PMID: 34828423 Free PMC article.

4

NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.

Tauscher RG, Rahmani S, Szymaniak BM, Jampol LM, Mirza RG. Tauscher RG, et al. Retin Cases Brief Rep. 2023 May 1;17(3):261-265. doi: 10.1097/ICB.0000000000001175. Retin Cases Brief Rep. 2023. PMID: 34127626

5

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Coco-Martin RM, Sanchez-Tocino HT, Desco C, Usategui-Martín R, Tellería JJ. Coco-Martin RM, et al. Genes (Basel). 2020 Jul 9;11(7):773. doi: 10.3390/genes11070773. Genes (Basel). 2020. PMID: 32660024 Free PMC article.

6

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C. Stanton CM, et al. Sci Rep. 2017 Sep 22;7(1):12147. doi: 10.1038/s41598-017-11898-3. Sci Rep. 2017. PMID: 28939808 Free PMC article.

7

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.

Conley SM, Stuck MW, Watson JN, Naash MI. Conley SM, et al. Hum Mol Genet. 2017 Feb 1;26(3):509-518. doi: 10.1093/hmg/ddw408. Hum Mol Genet. 2017. PMID: 28053051 Free PMC article.

8

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.

Chakraborty D, Conley SM, Zulliger R, Naash MI. Chakraborty D, et al. Hum Mol Genet. 2016 Aug 15;25(16):3500-3514. doi: 10.1093/hmg/ddw193. Epub 2016 Jun 29. Hum Mol Genet. 2016. PMID: 27365499 Free PMC article.

9

Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

Vaclavik V, Tran HV, Gaillard MC, Schorderet DF, Munier FL. Vaclavik V, et al. Retina. 2012 Oct;32(9):1942-9. doi: 10.1097/IAE.0b013e31824b32e4. Retina. 2012. PMID: 22466463

10

Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A. Duncan JL, et al. Invest Ophthalmol Vis Sci. 2011 Mar 1;52(3):1557-66. doi: 10.1167/iovs.10-6549. Invest Ophthalmol Vis Sci. 2011. PMID: 21071739 Free PMC article.

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