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5. Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea. Mangialavori D; Colao E; Carnevali A; Bruzzichessi D; Grillone T; Perrotti N; Iuliano R; Scorcia V Cornea; 2015 Aug; 34(8):976-9. PubMed ID: 26020825 [TBL] [Abstract][Full Text] [Related]
6. Ocular Manifestations of Chordin-like 1 Knockout Mice. Chen D; Liu Y; Shu G; Chen C; Sullivan DA; Kam WR; Hann S; Fowler M; Warman ML Cornea; 2020 Sep; 39(9):1145-1150. PubMed ID: 32452990 [TBL] [Abstract][Full Text] [Related]
7. Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review. Ong APC; Zhang J; Vincent AL; McGhee CNJ Clin Exp Ophthalmol; 2021 Jul; 49(5):477-497. PubMed ID: 34114333 [TBL] [Abstract][Full Text] [Related]
8. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Webb TR; Matarin M; Gardner JC; Kelberman D; Hassan H; Ang W; Michaelides M; Ruddle JB; Pennell CE; Yazar S; Khor CC; Aung T; Yogarajah M; Robson AG; Holder GE; Cheetham ME; Traboulsi EI; Moore AT; Sowden JC; Sisodiya SM; Mackey DA; Tuft SJ; Hardcastle AJ Am J Hum Genet; 2012 Feb; 90(2):247-59. PubMed ID: 22284829 [TBL] [Abstract][Full Text] [Related]
10. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771 [TBL] [Abstract][Full Text] [Related]
11. Keratoconus and Fuchs' heterochromic iridocyclitis: a coincidence or a defect during embryogenesis? Yagci A; Uretmen O; Egrilmez S; Gunenc U; Kusbeci T Eur J Ophthalmol; 2001; 11(1):73-6. PubMed ID: 11284490 [TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. Lechner J; Dash DP; Muszynska D; Hosseini M; Segev F; George S; Frazer DG; Moore JE; Kaye SB; Young T; Simpson DA; Churchill AJ; Héon E; Willoughby CE Invest Ophthalmol Vis Sci; 2013 May; 54(5):3215-23. PubMed ID: 23599324 [TBL] [Abstract][Full Text] [Related]
14. Association of Variants in TMEM45A With Keratoglobus. Weiner C; Hecht I; Kotlyar A; Shoshany N; Zadok D; Elbaz U; Segev F; Maytal A; Hachmo Y; Michiels C; De Backer O; Shomron N; Einan-Lifshitz A; Pras E JAMA Ophthalmol; 2021 Oct; 139(10):1089-1095. PubMed ID: 34410316 [TBL] [Abstract][Full Text] [Related]
15. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease. Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q Invest Ophthalmol Vis Sci; 2019 Jan; 60(1):93-97. PubMed ID: 30640974 [TBL] [Abstract][Full Text] [Related]
16. [Big beautiful eyes: What if it is megalocornea?]. Laaribi N; Abdellaoui T; Aachak M; Ajhoun Y; Tarib I; El Asri F; Reda K; Oubaaz A J Fr Ophtalmol; 2019 Jan; 42(1):96-98. PubMed ID: 30553622 [No Abstract] [Full Text] [Related]
17. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. Liskova P; Palos M; Hardcastle AJ; Vincent AL JAMA Ophthalmol; 2013 Oct; 131(10):1296-303. PubMed ID: 23807282 [TBL] [Abstract][Full Text] [Related]
18. Megalocornea associated with microduplications on chromosome 16. Samalia P; Buller A Ophthalmic Genet; 2018; 39(1):129-130. PubMed ID: 28453371 [No Abstract] [Full Text] [Related]
19. Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. Vincent AL; Jordan CA; Cadzow MJ; Merriman TR; McGhee CN Invest Ophthalmol Vis Sci; 2014 Aug; 55(9):5629-35. PubMed ID: 25097247 [TBL] [Abstract][Full Text] [Related]
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