154 related articles for article (PubMed ID: 31264930)
1. Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the
Morillo Sánchez MJ; Llavero Valero P; González-Del Pozo M; Ponte Zuñiga B; Antiñolo G; Ramos Jiménez M; Rodríguez De La Rúa Franch E
Ophthalmic Genet; 2019 Jun; 40(3):288-292. PubMed ID: 31264930
[No Abstract] [Full Text] [Related]
2. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
Godinho G; Madeira C; Grangeia A; Neves-Cardoso P; Santos-Silva R; Brandão E; Carneiro Â; Falcão-Reis F; Estrela-Silva S
Ophthalmic Genet; 2020 Oct; 41(5):474-479. PubMed ID: 32703043
[TBL] [Abstract][Full Text] [Related]
3. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
Ayala-Ramirez R; Graue-Wiechers F; Robredo V; Amato-Almanza M; Horta-Diez I; Zenteno JC
Mol Vis; 2006 Dec; 12():1483-9. PubMed ID: 17167404
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC
Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
[TBL] [Abstract][Full Text] [Related]
5. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
Mameesh M; Ganesh A; Harikrishna B; Al Zuhaibi S; Scott P; Al Kalbani S; Al Thihli K
Ophthalmic Genet; 2017 Dec; 38(6):544-548. PubMed ID: 28511025
[TBL] [Abstract][Full Text] [Related]
6. Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
Neri A; Leaci R; Zenteno JC; Casubolo C; Delfini E; Macaluso C
Mol Vis; 2012; 18():2623-32. PubMed ID: 23112574
[TBL] [Abstract][Full Text] [Related]
7. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
Paun CC; Pijl BJ; Siemiatkowska AM; Collin RW; Cremers FP; Hoyng CB; den Hollander AI
Mol Vis; 2012; 18():2447-53. PubMed ID: 23077403
[TBL] [Abstract][Full Text] [Related]
8. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
Zenteno JC; Buentello-Volante B; Quiroz-González MA; Quiroz-Reyes MA
Mol Vis; 2009 Sep; 15():1794-8. PubMed ID: 19753314
[TBL] [Abstract][Full Text] [Related]
9. A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family.
Ren X; Gao Y; Lin Y; Fu X; Xiao L; Wang X; Zeng Z; Bao L; Yan N; Zhang M; Tang L
Front Med (Lausanne); 2022; 9():835621. PubMed ID: 35402469
[TBL] [Abstract][Full Text] [Related]
10.
Vanden Heuvel C; Aldred B; Boulter T; Sullivan R; Ver Hoeve J; Schmitt M
Ophthalmic Genet; 2023 Feb; 44(1):83-88. PubMed ID: 35880649
[TBL] [Abstract][Full Text] [Related]
11. Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.
Zacharias LC; Susanna R; Sundin O; Finzi S; Susanna BN; Takahashi WY
Retin Cases Brief Rep; 2015; 9(1):61-3. PubMed ID: 25383852
[TBL] [Abstract][Full Text] [Related]
12. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Vincent A; Ng J; Gerth-Kahlert C; Tavares E; Maynes JT; Wright T; Tiwari A; Tumber A; Li S; Hanson JV; Bahr A; MacDonald H; Bähr L; Westall C; Berger W; Cremers FP; den Hollander AI; Héon E
Invest Ophthalmol Vis Sci; 2016 May; 57(6):2637-46. PubMed ID: 27258436
[TBL] [Abstract][Full Text] [Related]
13. NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.
Kovacs KD; Van Tassel SH; Gupta MP
Retin Cases Brief Rep; 2023 May; 17(3):269-272. PubMed ID: 34293777
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations in
Bacci GM; Bargiacchi S; Fortunato P; Pisaneschi E; Peluso F; Marziali E; Magli A; Giglio SR; Caputo R
Ophthalmic Genet; 2020 Feb; 41(1):49-56. PubMed ID: 32118495
[No Abstract] [Full Text] [Related]
15. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M; Vodopiutz J; Lechner S; Moser E; Schmidt-Erfurth UM; Janecke AR
Br J Ophthalmol; 2013 Feb; 97(2):169-73. PubMed ID: 23143909
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
17. MFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome.
Marques JP
Ophthalmic Surg Lasers Imaging Retina; 2021 Feb; 52(2):110. PubMed ID: 33626173
[TBL] [Abstract][Full Text] [Related]
18. Posterior microphthalmos pigmentary retinopathy syndrome.
Pehere N; Jalali S; Deshmukh H; Kannabiran C
Doc Ophthalmol; 2011 Apr; 122(2):127-32. PubMed ID: 21416382
[TBL] [Abstract][Full Text] [Related]
19. Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I; Kondo H; Tawara A
Jpn J Ophthalmol; 2012 Jul; 56(4):396-400. PubMed ID: 22565643
[TBL] [Abstract][Full Text] [Related]
20. Posterior microphthalmos with retinal involvement related to
Amaral RAS; Zin OA; Moraes RT; Porto FBO; Carricondo PC; Pimentel SLG; Kestelman BP; Watanabe SES; Sallum JMF
Ophthalmic Genet; 2024 Apr; ():1-8. PubMed ID: 38557281
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
