189 related articles for article (PubMed ID: 33203948)
1. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L; Guan B; Ullah E; Archer SM; Ayres BM; Besirli CG; Wiinikka-Buesser L; Comer GM; Del Monte MA; Elner SG; Garnai SJ; Huryn LA; Johnson K; Kamat SS; Lieu P; Mian SI; Rygiel CA; Serpen JY; Pawar HS; Brooks BP; Moroi SE; Richards JE; Hufnagel RB
Sci Rep; 2020 Nov; 10(1):19986. PubMed ID: 33203948
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr A; Dubé MP; Zenteno JC; Jiang H; Asselin G; Evans SC; Caqueret A; Lakosha H; Letourneau L; Marcadier J; Matsuoka M; Macgillivray C; Nightingale M; Papillon-Cavanagh S; Perry S; Provost S; Ludman M; Guernsey DL; Samuels ME
Mol Vis; 2011; 17():1850-61. PubMed ID: 21850159
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B; Arno G; De Zaeytijd J; Verdin H; Balikova I; Casteels I; de Ravel T; Hull S; Suzani M; Destrée A; Peng M; Williams D; Ainsworth JR; Webster AR; Leroy BP; Moore AT; De Baere E
Sci Rep; 2020 Jan; 10(1):1289. PubMed ID: 31992737
[TBL] [Abstract][Full Text] [Related]
9. Identification of MFRP Mutations in Chinese Families with High Hyperopia.
Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yin Y; Guo X; Yang Z; Zhang Q
Optom Vis Sci; 2016 Jan; 93(1):19-26. PubMed ID: 26583794
[TBL] [Abstract][Full Text] [Related]
10. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
Nowilaty SR; Khan AO; Aldahmesh MA; Tabbara KF; Al-Amri A; Alkuraya FS
Am J Ophthalmol; 2013 Feb; 155(2):361-372.e7. PubMed ID: 23127749
[TBL] [Abstract][Full Text] [Related]
11. Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C; Zhao Z; Chen D; He S; Sun N; Li Z; Liu J; Zhang D; Zhang J; Li J; Zhang M; Ge J; Liu X; Zhang X; Fan Z
Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):2904-2913. PubMed ID: 31266062
[TBL] [Abstract][Full Text] [Related]
12. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai SJ; Brinkmeier ML; Emery B; Aleman TS; Pyle LC; Veleva-Rotse B; Sisk RA; Rozsa FW; Ozel AB; Li JZ; Moroi SE; Archer SM; Lin CM; Sheskey S; Wiinikka-Buesser L; Eadie J; Urquhart JE; Black GCM; Othman MI; Boehnke M; Sullivan SA; Skuta GL; Pawar HS; Katz AE; Huryn LA; Hufnagel RB; ; Camper SA; Richards JE; Prasov L
PLoS Genet; 2019 May; 15(5):e1008130. PubMed ID: 31048900
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Awadalla MS; Burdon KP; Souzeau E; Landers J; Hewitt AW; Sharma S; Craig JE
JAMA Ophthalmol; 2014 Aug; 132(8):970-7. PubMed ID: 24852644
[TBL] [Abstract][Full Text] [Related]
16. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
Metlapally R; Li YJ; Tran-Viet KN; Bulusu A; White TR; Ellis J; Kao D; Young TL
Mol Vis; 2008 Mar; 14():387-93. PubMed ID: 18334955
[TBL] [Abstract][Full Text] [Related]
17. A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M; Parzefall T; Frohne A; Frei E; Waldstein SM; Mitulovic G; Schoefer C; Frei K; Lucas T
Exp Eye Res; 2021 Apr; 205():108497. PubMed ID: 33596443
[TBL] [Abstract][Full Text] [Related]
18. Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Wasmann RA; Wassink-Ruiter JS; Sundin OH; Morales E; Verheij JB; Pott JW
Acta Ophthalmol; 2014 May; 92(3):276-81. PubMed ID: 23742260
[TBL] [Abstract][Full Text] [Related]
19. Clinical features of patients with mutations in genes for nanophthalmos.
Li X; Xiao H; Su Y; Xiao X; Li S; Lin S; Fang L; Sun W; Wang P; Hejtmancik JF; Yu M; Chen L; Zhang Q; Liu X
Br J Ophthalmol; 2024 May; ():. PubMed ID: 38749530
[TBL] [Abstract][Full Text] [Related]
20. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
Sundin OH; Dharmaraj S; Bhutto IA; Hasegawa T; McLeod DS; Merges CA; Silval ED; Maumenee IH; Lutty GA
Ophthalmic Genet; 2008 Mar; 29(1):1-9. PubMed ID: 18363166
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
