124 related articles for article (PubMed ID: 19169412)
21. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E; Koller S; Atac D; Pfäffli OA; Hanson JVM; Feil S; Bähr L; Bahr A; Kottke R; Joset P; Fasler K; Barthelmes D; Steindl K; Konrad D; Wille DA; Berger W; Gerth-Kahlert C
Acta Ophthalmol; 2021 Jun; 99(4):e594-e607. PubMed ID: 32996714
[TBL] [Abstract][Full Text] [Related]
22. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.
Pauer GJ; Xi Q; Zhang K; Traboulsi EI; Hagstrom SA
Ophthalmic Genet; 2005 Dec; 26(4):157-61. PubMed ID: 16352475
[TBL] [Abstract][Full Text] [Related]
23. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Khorram D; Choi M; Roos BR; Stone EM; Kopel T; Allen R; Alward WL; Scheetz TE; Fingert JH
Mol Vis; 2015; 21():1017-23. PubMed ID: 26392740
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM; Awadalla MS; Souzeau E; Staffieri SE; Kearns LS; Laurie K; Kuot A; Qassim A; Edwards TL; Coote MA; Mancel E; Walland MJ; Dondey J; Galanopoulous A; Casson RJ; Mills RA; MacArthur DG; Ruddle JB; Burdon KP; Craig JE
Clin Genet; 2020 May; 97(5):764-769. PubMed ID: 32052405
[TBL] [Abstract][Full Text] [Related]
27. Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.
Jiang D; Yang Z; Li S; Xiao X; Jia X; Wang P; Guo X; Liu X; Zhang Q
Mol Vis; 2013; 19():2217-26. PubMed ID: 24227917
[TBL] [Abstract][Full Text] [Related]
28. Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Velez G; Tsang SH; Tsai YT; Hsu CW; Gore A; Abdelhakim AH; Mahajan M; Silverman RH; Sparrow JR; Bassuk AG; Mahajan VB
Sci Rep; 2017 Nov; 7(1):16151. PubMed ID: 29170418
[TBL] [Abstract][Full Text] [Related]
29. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Xiao X; Sun W; Ouyang J; Li S; Jia X; Tan Z; Hejtmancik JF; Zhang Q
Hum Genet; 2019 Oct; 138(10):1077-1090. PubMed ID: 31172260
[TBL] [Abstract][Full Text] [Related]
30. Pathogenic variants of
Ota J; Inooka T; Okado S; Maeda N; Koyanagi Y; Kominami T; Nishiguchi KM; Ueno S
Ophthalmic Genet; 2023 Oct; 44(5):423-429. PubMed ID: 37501562
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
Koli S; Labelle-Dumais C; Zhao Y; Paylakhi S; Nair KS
PLoS Genet; 2021 Mar; 17(3):e1009458. PubMed ID: 33755662
[TBL] [Abstract][Full Text] [Related]
33. Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human
Chekuri A; Sahu B; Chavali VRM; Voronchikhina M; Soto-Hermida A; Suk JJ; Alapati AN; Bartsch DU; Ayala-Ramirez R; Zenteno JC; Dinculescu A; Jablonski MM; Borooah S; Ayyagari R
Hum Gene Ther; 2019 May; 30(5):632-650. PubMed ID: 30499344
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in
Siggs OM; Souzeau E; Breen J; Qassim A; Zhou T; Dubowsky A; Ruddle JB; Craig JE
Mol Vis; 2019; 25():527-534. PubMed ID: 31700225
[TBL] [Abstract][Full Text] [Related]
36. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Abouzeid H; Li Y; Maumenee IH; Dharmaraj S; Sundin O
Ophthalmic Genet; 2006 Mar; 27(1):15-20. PubMed ID: 16543197
[TBL] [Abstract][Full Text] [Related]
37. Spatial and temporal expression of MFRP and its interaction with CTRP5.
Mandal MN; Vasireddy V; Jablonski MM; Wang X; Heckenlively JR; Hughes BA; Reddy GB; Ayyagari R
Invest Ophthalmol Vis Sci; 2006 Dec; 47(12):5514-21. PubMed ID: 17122143
[TBL] [Abstract][Full Text] [Related]
38. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.
Kameya S; Hawes NL; Chang B; Heckenlively JR; Naggert JK; Nishina PM
Hum Mol Genet; 2002 Aug; 11(16):1879-86. PubMed ID: 12140190
[TBL] [Abstract][Full Text] [Related]
39. Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
Said MB; Chouchène E; Salem SB; Daoud K; Largueche L; Bouassida W; Benzina Z; Ayadi H; Söderkvist P; Matri L; Hmani-Aifa M
Gene; 2013 Oct; 528(2):288-94. PubMed ID: 23820083
[TBL] [Abstract][Full Text] [Related]
40. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein.
Katoh M
Biochem Biophys Res Commun; 2001 Mar; 282(1):116-23. PubMed ID: 11263980
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
