170 related articles for article (PubMed ID: 26045100)
1. Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
Wei T; Sun H; Hu B; Yang J; Qiao C; Yan M
Twin Res Hum Genet; 2015 Aug; 18(4):393-8. PubMed ID: 26045100
[TBL] [Abstract][Full Text] [Related]
2. Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Zhang R; Thiele H; Bartmann P; Hilger AC; Berg C; Herberg U; Klingmüller D; Nürnberg P; Ludwig M; Reutter H
Twin Res Hum Genet; 2016 Feb; 19(1):60-5. PubMed ID: 26681452
[TBL] [Abstract][Full Text] [Related]
3. A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
González-Huerta LM; Messina-Baas O; Urueta H; Toral-López J; Cuevas-Covarrubias SA
Gene; 2013 Oct; 529(1):181-5. PubMed ID: 23954869
[TBL] [Abstract][Full Text] [Related]
4. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L; Yao W; Eiberg H; Kjaer KW; Baggesen K; Hejtmancik JF; Rosenberg T
Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):3937-44. PubMed ID: 17724170
[TBL] [Abstract][Full Text] [Related]
5. [Progress in pathogenic genes and their functions of congenital cataract].
Wang KJ; Zhu SQ; Cheng J
Zhonghua Yan Ke Za Zhi; 2010 Mar; 46(3):280-4. PubMed ID: 20450675
[TBL] [Abstract][Full Text] [Related]
6. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay SF; Rand CM; Borch LA; Nguyen L; Gray PA; Gibson WT; Wilson RJ; Gordon PM; Aung Z; Berry-Kravis EM; Ize-Ludlow D; Weese-Mayer DE; Bech-Hansen NT
Orphanet J Rare Dis; 2015 Aug; 10():103. PubMed ID: 26302956
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W; Xiao X; Li S; Guo X; Zhang Q
Mol Vis; 2011; 17():2197-206. PubMed ID: 21866213
[TBL] [Abstract][Full Text] [Related]
8. Detection of c.139G>A (D47N) mutation in
Gunda P; Manne M; Adeel SS; Kondareddy RKR; Tirunilai P
J Genet; 2018 Sep; 97(4):879-885. PubMed ID: 30262699
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.
Yang G; Zhong S; Zhang X; Peng B; Li J; Ke T; Xu H
J Huazhong Univ Sci Technolog Med Sci; 2010 Dec; 30(6):792-7. PubMed ID: 21181374
[TBL] [Abstract][Full Text] [Related]
10. [Report of gene mutation hot spots analysis in one congenital cataract pedigree].
Zhang X; Liu Y; Luo L; Wu M; Cheng G; Hu B
Yan Ke Xue Bao; 2004 Jul; 20(2):131-4. PubMed ID: 15301114
[TBL] [Abstract][Full Text] [Related]
11. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS; Grigg JR; Ho G; Prokudin I; Farnsworth E; Holman K; Cheng A; Billson FA; Martin F; Fraser C; Mowat D; Smith J; Christodoulou J; Flaherty M; Bennetts B; Jamieson RV
Hum Mutat; 2016 Apr; 37(4):371-84. PubMed ID: 26694549
[TBL] [Abstract][Full Text] [Related]
12. A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V; Singh D
Mol Cell Biochem; 2012 Sep; 368(1-2):167-72. PubMed ID: 22669729
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis LM; Tyler RC; Muheisen S; Raggio V; Salviati L; Han DP; Costakos D; Yonath H; Hall S; Power P; Semina EV
Hum Genet; 2013 Jul; 132(7):761-70. PubMed ID: 23508780
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Santhiya ST; Manisastry SM; Rawlley D; Malathi R; Anishetty S; Gopinath PM; Vijayalakshmi P; Namperumalsamy P; Adamski J; Graw J
Invest Ophthalmol Vis Sci; 2004 Oct; 45(10):3599-607. PubMed ID: 15452067
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S; Zhang J; Cao Y; You Y; Zhao X
BMC Med Genet; 2019 Dec; 20(1):196. PubMed ID: 31842807
[TBL] [Abstract][Full Text] [Related]
16. Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C; He Y; Jiang C; Zhang X; Zhu P; Li W; Zhou H; Xue C; Xia X
Mol Med Rep; 2023 Jun; 27(6):. PubMed ID: 37165913
[TBL] [Abstract][Full Text] [Related]
17. A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Vanita V; Singh JR; Singh D; Varon R; Sperling K
Mol Vis; 2008 Jun; 14():1171-5. PubMed ID: 18587493
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
Ren M; Yang XG; Dang XJ; Xiao JA
Graefes Arch Clin Exp Ophthalmol; 2017 Jan; 255(1):141-151. PubMed ID: 27785597
[TBL] [Abstract][Full Text] [Related]
19. Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL; O'Sullivan J; Ashworth J; Bhaskar S; Williams S; Biswas S; Kehdi E; Ramsden SC; Clayton-Smith J; Black GC; Lloyd IC
Ophthalmology; 2014 Nov; 121(11):2124-37.e1-2. PubMed ID: 25148791
[TBL] [Abstract][Full Text] [Related]
20. Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M; Demirtaş AA; Erdem S; Ava S; Tekeş S; Keklikçi U
Int Ophthalmol; 2021 Aug; 41(8):2847-2852. PubMed ID: 33864186
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]