199 related articles for article (PubMed ID: 36917121)
21. Confirming and expanding the phenotypes of
Jiang Y; Ouyang J; Li S; Xiao X; Sun W; Zhang Q
Mol Vis; 2021; 27():50-60. PubMed ID: 33633439
[TBL] [Abstract][Full Text] [Related]
22. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
[TBL] [Abstract][Full Text] [Related]
23. CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
Ouyang J; Sun W; Xiao X; Li S; Jia X; Zhou L; Wang P; Zhang Q
Hum Mol Genet; 2019 Jun; 28(12):1959-1970. PubMed ID: 30689892
[TBL] [Abstract][Full Text] [Related]
24. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
[TBL] [Abstract][Full Text] [Related]
25. Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.
Li J; Jiang D; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
Invest Ophthalmol Vis Sci; 2015 Jan; 56(2):722-9. PubMed ID: 25587058
[TBL] [Abstract][Full Text] [Related]
26. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Wang X; Jia X; Xiao X; Li S; Li J; Li Y; Wei Y; Liang X; Guo X
Mol Vis; 2016; 22():697-704. PubMed ID: 27390512
[TBL] [Abstract][Full Text] [Related]
27. LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
Laurentino TS; Soares RDS; Marie SKN; Oba-Shinjo SM
Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31340433
[TBL] [Abstract][Full Text] [Related]
28. Autosomal Recessive Stickler Syndrome.
Nixon TRW; Richards AJ; Martin H; Alexander P; Snead MP
Genes (Basel); 2022 Jun; 13(7):. PubMed ID: 35885918
[TBL] [Abstract][Full Text] [Related]
29. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T; Hosono K; Kurata K; Katagiri S; Mizobuchi K; Ueno S; Kondo M; Nakano T; Hotta Y
Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
[TBL] [Abstract][Full Text] [Related]
30. Variants in
Yang J; Xiao X; Sun W; Li S; Jia X; Zhang Q
Curr Eye Res; 2021 Jun; 46(6):839-844. PubMed ID: 33104391
[TBL] [Abstract][Full Text] [Related]
31. Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.
Niu J; Zhu W; Jin X; Teng X; Zhang J
Invest Ophthalmol Vis Sci; 2024 Mar; 65(3):32. PubMed ID: 38517428
[TBL] [Abstract][Full Text] [Related]
32. Progressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.
Liu Z; Mo F; Dong X; Chen G; Gao J; Zhang J
Dev Biol; 2023 Mar; 495():54-62. PubMed ID: 36610533
[TBL] [Abstract][Full Text] [Related]
33. Novel
Zhou L; Li T; Xing YQ; Li Y; Wu QS; Zhang MJ
Int J Ophthalmol; 2016; 9(10):1396-1402. PubMed ID: 27803854
[TBL] [Abstract][Full Text] [Related]
34. Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S; Arno G; Ku CA; Ge Z; Waseem N; Chandra A; Webster AR; Robson AG; Michaelides M; Weleber RG; Davagnanam I; Chen R; Holder GE; Pennesi ME; Moore AT
JAMA Ophthalmol; 2016 Jul; 134(7):753-62. PubMed ID: 27259167
[TBL] [Abstract][Full Text] [Related]
35. Exome Sequence Analysis of 14 Families With High Myopia.
Kloss BA; Tompson SW; Whisenhunt KN; Quow KL; Huang SJ; Pavelec DM; Rosenberg T; Young TL
Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):1982-1990. PubMed ID: 28384719
[TBL] [Abstract][Full Text] [Related]
36. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Yang S; Li Z; Cheng W; Ma M; Qi R; Rui X; Ren Y; Sheng X; Rong W
Mol Genet Genomic Med; 2023 Jan; 11(1):e2095. PubMed ID: 36378562
[TBL] [Abstract][Full Text] [Related]
37. Cone-rod dysfunction is a sign of early-onset high myopia.
Wang P; Xiao X; Huang L; Guo X; Zhang Q
Optom Vis Sci; 2013 Nov; 90(11):1327-30. PubMed ID: 24100477
[TBL] [Abstract][Full Text] [Related]
38. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang L; Chen C; Wang Z; Sun L; Li S; Zhang T; Luo X; Ding X
Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32756486
[TBL] [Abstract][Full Text] [Related]
39. Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.
Liu F; Wang J; Xing Y; Li T
Ophthalmic Physiol Opt; 2020 May; 40(3):271-280. PubMed ID: 32215939
[TBL] [Abstract][Full Text] [Related]
40. Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
Wang Y; Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
Am J Ophthalmol; 2021 Mar; 223():160-168. PubMed ID: 33342761
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]