139 related articles for article (PubMed ID: 35042684)
1. Novel
Guo D; Yang F; Zhou Y; Zhang X; Cao Q; Jin G; Zheng D
Br J Ophthalmol; 2023 Jun; 107(6):774-779. PubMed ID: 35042684
[TBL] [Abstract][Full Text] [Related]
2. Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.
Zhao J; Zhou Y; Zhang J; Zhang K; Shang L; Li J
Exp Eye Res; 2022 Nov; 224():109243. PubMed ID: 36089008
[TBL] [Abstract][Full Text] [Related]
3. Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX; Jia WN; Sun Y; Chen TH; Zhao ZN; Lan LN; Liu Y; Song LH; Jiang YX
Hum Mutat; 2022 Dec; 43(12):2141-2152. PubMed ID: 36208099
[TBL] [Abstract][Full Text] [Related]
4. Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
Sharifi Y; Tjon-Fo-Sang MJ; Cruysberg JR; Maat-Kievit AJ
Br J Ophthalmol; 2013 May; 97(5):583-7. PubMed ID: 23426735
[TBL] [Abstract][Full Text] [Related]
5. ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA; Al Taie R; Ikink W; Oliver VF; Vincent AL
Ophthalmic Genet; 2017 Dec; 38(6):537-543. PubMed ID: 28394649
[TBL] [Abstract][Full Text] [Related]
6. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE; Fiskerstrand T; Knappskog PM; Boman H; Rødahl E
Invest Ophthalmol Vis Sci; 2010 Dec; 51(12):6369-73. PubMed ID: 20702823
[TBL] [Abstract][Full Text] [Related]
7. ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
Scanga HL; Nischal KK
Am J Med Genet A; 2022 Jun; 188(6):1853-1857. PubMed ID: 35218299
[TBL] [Abstract][Full Text] [Related]
8. A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.
Wei H; Meng X; Qin H; Li X
J Med Case Rep; 2023 Dec; 17(1):532. PubMed ID: 38146062
[TBL] [Abstract][Full Text] [Related]
9. Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.
Safi M; Nejad SK; O'Hara M; Shankar SP
J Pediatr Ophthalmol Strabismus; 2019 Jul; 56():e45-e48. PubMed ID: 31282960
[TBL] [Abstract][Full Text] [Related]
10. The phenotypic spectrum of
Knight LSW; Mullany S; Taranath DA; Ruddle JB; Barnett CP; Sallevelt SCEH; Berry EC; Marshall HN; Hollitt GL; Souzeau E; Craig JE; Siggs OM
Mol Vis; 2022; 28():257-268. PubMed ID: 36284667
[TBL] [Abstract][Full Text] [Related]
11. Genotype variant screening and phenotypic analysis of
Zhou Y; Guo D; Cao Q; Zhang X; Jin G; Zheng D
Mol Med Rep; 2021 Apr; 23(4):. PubMed ID: 33576469
[TBL] [Abstract][Full Text] [Related]
12. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA; Ahnood D; Charteris DG; Saggar A; Nischal KK; Comeglio P; Chandra A; Child AH; Arno G
Hum Mutat; 2010 Aug; 31(8):E1622-31. PubMed ID: 20564469
[TBL] [Abstract][Full Text] [Related]
13. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
[TBL] [Abstract][Full Text] [Related]
14. ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann TM; Stegerer A; Riess A; Blair E; Martin T; Wieser S; Kläs R; Bouman A; Kuechler A; Rittinger O
Am J Med Genet A; 2015 Oct; 167A(10):2376-81. PubMed ID: 25975359
[TBL] [Abstract][Full Text] [Related]
15. Novel p.G1344E mutation in
Yang Y; Zhou YL; Yao TT; Pan H; Gu P; Wang ZY
Br J Ophthalmol; 2021 Mar; 105(3):341-347. PubMed ID: 32404357
[TBL] [Abstract][Full Text] [Related]
16. A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
Neuhann TM; Artelt J; Neuhann TF; Tinschert S; Rump A
Invest Ophthalmol Vis Sci; 2011 Feb; 52(2):695-700. PubMed ID: 21051722
[TBL] [Abstract][Full Text] [Related]
17. Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
Liu L; Guo D; Yang F; Qi H; Zhou Y; Zheng D; Jin G
Mol Vis; 2023; 29():169-179. PubMed ID: 38222456
[TBL] [Abstract][Full Text] [Related]
18. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.
Greene VB; Stoetzel C; Pelletier V; Perdomo-Trujillo Y; Liebermann L; Marion V; De Korvin H; Boileau C; Dufier JL; Dollfus H
Ophthalmic Genet; 2010 Mar; 31(1):47-51. PubMed ID: 20141359
[TBL] [Abstract][Full Text] [Related]
19. Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.
Chandra A; Aragon-Martin JA; Sharif S; Parulekar M; Child A; Arno G
Ophthalmic Genet; 2013; 34(1-2):78-82. PubMed ID: 22871183
[TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
Zhou XM; Wang Y; Zhao L; Yu WH; Fan N; Yan NH; Su Q; Liang YQ; Wang Y; Li LP; Cai SP; Jonas JB; Liu XY
Acta Ophthalmol; 2015 Feb; 93(1):e91-2. PubMed ID: 24802351
[No Abstract] [Full Text] [Related]
[Next] [New Search]
