195 related articles for article (PubMed ID: 31700225)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
Yu X; Sun N; Yang X; Zhao Z; Su X; Zhang J; He Y; Lin Y; Ge J; Fan Z
Invest Ophthalmol Vis Sci; 2021 Mar; 62(3):1. PubMed ID: 33646289
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
Hassall MM; Javadiyan S; Klebe S; Awadalla MS; Sharma S; Qassim A; White M; Thomas PQ; Craig JE; Siggs OM
Sci Rep; 2023 Jul; 13(1):11017. PubMed ID: 37419942
[TBL] [Abstract][Full Text] [Related]
12. Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
Hagedorn J; Avdic A; Schnieders MJ; Roos BR; Kwon YH; Drack AV; Boese EA; Fingert JH
BMC Ophthalmol; 2020 Oct; 20(1):388. PubMed ID: 33004036
[TBL] [Abstract][Full Text] [Related]
13. Does the association between TMEM98 and nanophthalmos require further confirmation?
Sun W; Zhang Q
JAMA Ophthalmol; 2015 Mar; 133(3):358-9. PubMed ID: 25429522
[No Abstract] [Full Text] [Related]
14. Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.
Awadalla MS; Burdon KP; Craig JE
JAMA Ophthalmol; 2015 Mar; 133(3):359-60. PubMed ID: 25429596
[No Abstract] [Full Text] [Related]
15. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
Othman MI; Sullivan SA; Skuta GL; Cockrell DA; Stringham HM; Downs CA; Fornés A; Mick A; Boehnke M; Vollrath D; Richards JE
Am J Hum Genet; 1998 Nov; 63(5):1411-8. PubMed ID: 9792868
[TBL] [Abstract][Full Text] [Related]
16. Truncation mutations in MYRF underlie primary angle closure glaucoma.
Ouyang J; Sun W; Shen H; Liu X; Wu Y; Jiang H; Li X; Wang Y; Jiang Y; Li S; Xiao X; Hejtmancik JF; Tan Z; Zhang Q
Hum Genet; 2023 Jan; 142(1):103-123. PubMed ID: 36129575
[TBL] [Abstract][Full Text] [Related]
17. Evaluation of
Yu X; Sun N; Guo C; Zhao Z; Ye M; Zhang J; Ge J; Fan Z
Mol Vis; 2021; 27():734-740. PubMed ID: 35136345
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [A family with nanophthalmos caused by a TMEM98 gene variant].
Yu XW; Shi Y; Gao Y; Fan ZG
Zhonghua Yan Ke Za Zhi; 2022 Nov; 58(11):932-935. PubMed ID: 36348534
[TBL] [Abstract][Full Text] [Related]
20. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
