169 related articles for article (PubMed ID: 31282960)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. [Hereditary ectopia lentis].
Neuhann TM
Klin Monbl Augenheilkd; 2015 Mar; 232(3):259-65. PubMed ID: 25654236
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Reinstein E; Smirin-Yosef P; Lagovsky I; Davidov B; Peretz Amit G; Neumann D; Orr-Urtreger A; Ben-Shachar S; Basel-Vanagaite L
Mol Genet Metab; 2016 Jan; 117(1):38-41. PubMed ID: 26653794
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Collin GB; Hubmacher D; Charette JR; Hicks WL; Stone L; Yu M; Naggert JK; Krebs MP; Peachey NS; Apte SS; Nishina PM
Hum Mol Genet; 2015 Dec; 24(24):6958-74. PubMed ID: 26405179
[TBL] [Abstract][Full Text] [Related]
20. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
Ahram D; Sato TS; Kohilan A; Tayeh M; Chen S; Leal S; Al-Salem M; El-Shanti H
Am J Hum Genet; 2009 Feb; 84(2):274-8. PubMed ID: 19200529
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]