127 related articles for article (PubMed ID: 37133842)
1. Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous
Lima FL; Cronemberger S; Albuquerque ALB; Barbosa LF; Cunha FR; Veloso AW; Diniz-Filho A; Friedman E; De Marco L
Ophthalmic Genet; 2023 Aug; 44(4):366-370. PubMed ID: 37133842
[TBL] [Abstract][Full Text] [Related]
2. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in
Van Hoorde T; Nerinckx F; Kreps E; Roels D; Huyghe P; Van Heetvelde M; Verdin H; De Baere E; Balikova I; Leroy BP
Ophthalmic Genet; 2021 Aug; 42(4):493-499. PubMed ID: 34018898
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.
Lei C; Guo T; Ding S; Liao L; Peng H; Tan Z; Luo H
Mol Genet Genomic Med; 2021 Jan; 9(1):e1553. PubMed ID: 33217155
[TBL] [Abstract][Full Text] [Related]
4. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N; Khan AO; Mansour A; Mohamed JY; Al-Assiri A; Haddad R; Jia X; Xiong Y; Mégarbané A; Traboulsi EI; Alkuraya FS
Am J Hum Genet; 2014 May; 94(5):755-9. PubMed ID: 24768550
[TBL] [Abstract][Full Text] [Related]
5. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
Jones G; Johnson K; Eason J; Hamilton M; Osio D; Kanani F; Baptista J; Suri M
Eur J Med Genet; 2022 Oct; 65(10):104572. PubMed ID: 35918038
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation in the aspartate beta-hydroxylase (
Senthil S; Sharma S; Vishwakarma S; Kaur I
Ophthalmic Genet; 2021 Feb; 42(1):28-34. PubMed ID: 33251883
[TBL] [Abstract][Full Text] [Related]
7. Traboulsi Syndrome in Pakistan.
Awais T; Ali M; Khan SA
J Coll Physicians Surg Pak; 2019 Jun; 29(6):S37-S40. PubMed ID: 31142416
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
Chen ZX; Jia WN; Sun Y; Jiang YX
Gene; 2024 Oct; 925():148600. PubMed ID: 38788814
[TBL] [Abstract][Full Text] [Related]
9. Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
Kulkarni N; Lloyd IC; Ashworth J; Biswas S; Black GCM; Clayton-Smith J;
Clin Dysmorphol; 2019 Oct; 28(4):184-189. PubMed ID: 31274573
[TBL] [Abstract][Full Text] [Related]
10. Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
Siggs OM; Souzeau E; Craig JE
Ophthalmic Genet; 2019 Feb; 40(1):12-16. PubMed ID: 30600741
[TBL] [Abstract][Full Text] [Related]
11. A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.
Li Y; Xu J; Chen M; Du B; Li Q; Xing Q; Zhang Y
Clin Chim Acta; 2016 Sep; 460():102-6. PubMed ID: 27353645
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH; Caballero N; Trubnykova M; Castro-Mujica MDC; La Serna-Infantes JE; Vásquez F; Hennekam RC
Am J Med Genet A; 2018 Nov; 176(11):2494-2500. PubMed ID: 30194805
[TBL] [Abstract][Full Text] [Related]
14. Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
Zhao JH; Jin TB; Liu QB; Chen C; Hu HT
Ophthalmic Genet; 2013; 34(1-2):21-6. PubMed ID: 22950452
[TBL] [Abstract][Full Text] [Related]
15. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L; Fitzgerald-Butt SM; McBride KL
Am J Med Genet A; 2017 Nov; 173(11):2995-3002. PubMed ID: 28941062
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
Zhang L; Lai YH; Capasso JE; Han S; Levin AV
Am J Med Genet A; 2015 Jun; 167(6):1365-8. PubMed ID: 25900864
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic findings in Chinese families with congenital ectopia lentis.
Liu X; Niu L; Zhang L; Jiang L; Liu K; Wu X; Liu X; Wang J
Mol Genet Genomic Med; 2023 May; 11(5):e2140. PubMed ID: 36670079
[TBL] [Abstract][Full Text] [Related]
19. Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma.
Kuchtey J; Chang TC; Panagis L; Kuchtey RW
Am J Med Genet A; 2013 Apr; 161A(4):880-3. PubMed ID: 23444230
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
