Cite

1. Akhtar S, Alkatan HM, Kirat O, Khan AA, Almubrad T. Collagen fibrils and proteoglycans of macular dystrophy cornea: ultrastructure and 3d transmission electron tomography. Microsc Microanal. 2015 Jun;21(3):666-79. Epub 2015 May 5. PubMed PMID: 25939479.2015;21 (3): 666-79. PubMed PMID: 25939479.10.1017/S143192761500048325939479Search in Google Scholar

2. Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, et al. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype- phenotype correlation. Mol Vis 2008, 14:1713-8. PubMed PMID: 18806880; PubMed Central PMCID: PMC2538492.Search in Google Scholar

3. Moller HU. Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment. Acta Ophthalmol (Copenh) 1990, 68 (4):384-9. PubMed PMID: 2220354.10.1111/j.1755-3768.1990.tb01665.x2220354Search in Google Scholar

4. Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, D Venkataraman, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008, 17:656-66. Epub 2007 Nov 16. PubMed PMID: 18024964.10.1093/hmg/ddm33718024964Search in Google Scholar

5. Klintworth GK, Smith CF, Bowling BL. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Mol Vis. 2006 Mar 10;12:159-76. PubMed PMID: 16568029.Search in Google Scholar

6. Bao W, Smith CF, al-Rajhi A, Chandler JW, Karcioglu ZA, Akama TO, et al. Novel mutations in the CHST6 gene in Saudi Arabic patients with macular corneal dystrophy. Invest Ophthalmol Vis Sci. (Suppl) 2001, 42:S483.Search in Google Scholar

7. Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6. PubMed PMID: 15671264.10.1167/iovs.04-080415671264Search in Google Scholar

8. Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, ,Pescia G, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. PubMed PMID: 9054935.10.1038/ng0397-2479054935Search in Google Scholar

9. Korvatska E, Munier FL, Djemai A, Wang MX, Frueh B, Chiou AG, et al. Mutation hot spots in 5q31-linked corneal dystrophies Am J Hum Genet. 1998 Feb;62(2):320-4. PubMed PMID: 9463327; PubMed Central PMCID: PMC1376896.10.1086/30172013768969463327Search in Google Scholar

10. Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7. PubMed PMID: 16652336.10.1002/humu.2033116652336Search in Google Scholar

11. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann’s corneal dystrophy. Nat Genet. 1997 Jun;16(2):184-7. PubMed PMID: 9171831.10.1038/ng0697-1849171831Open DOISearch in Google Scholar

12. Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, et al. Molecular genetics of Meesmann’s corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000 Jan;70(1):41-9. PubMed PMID: 10644419.10.1006/exer.1999.076910644419Search in Google Scholar

13. Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, et al. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997 Dec;61(6):1268-75. PubMed PMID: 9399908; PubMed Central PMCID: PMC1716060.10.1086/30165017160609399908Search in Google Scholar

14. Szaflik JP, Oldak M, Maksym RB, Kamińska A, Pollak A, Udziela M, et al. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype- phenotype correlation. Mol Vis. 2008 Sep 15;14:1713-8. PubMed PMID: 18806880; PubMed Central PMCID: PMC2538492.Search in Google Scholar

15. Tsujikawa M, Kurahashi H, Tanaka T, Okada M, Yamamoto S, Maeda N, et al. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. Am J Hum Genet. 1998 Oct;63(4):1073-7. PubMed PMID: 9758629; PubMed Central PMCID: PMC1377503.10.1086/30207113775039758629Search in Google Scholar

16. Aldave AJ, Yellore VS, Bourla N, Momi RS, Khan MA, Salem AK, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007 Aug;26(7):896-900. PubMed PMID: 17667634.10.1097/ICO.0b013e318074bb0117667634Search in Google Scholar

17. Orr A, Dube MP, Marcadier J, Jiang H, Federico A, George S, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoSOne. 2007 Aug 1;2(8):e685. PubMed PMID: 17668063; PubMed Central PMCID: PMC1925147.10.1371/journal.pone.0000685192514717668063Search in Google Scholar

18. Weiss JS. Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2007;105:616-48. PubMed PMID: 18427632; PubMed Central PMCID: PMC2258126.Search in Google Scholar

19. Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, et al. The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. Hum Mutat. 2013 Feb;34(2):317-29. Epub 2012 Nov 27. Erratum in: Hum Mutat. 2013 Jul;34(7):1046. PubMed PMID: 23169578.10.1002/humu.22334Search in Google Scholar

20. Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4504-11. PubMed PMID: 16303941.10.1167/iovs.05-049716303941Search in Google Scholar

21. Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat.2010 Nov;31(11):1261-8. Epub 2010 Oct 14. PubMed PMID: 20848555; PubMed Central PMCID: PMC2970683.10.1002/humu.21356297068320848555Search in Google Scholar

22. Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, et al. VSX1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002 May 1; 11(9):1029-36. PubMed PMID: 11978762.10.1093/hmg/11.9.102911978762Search in Google Scholar

23. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratoty Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009 Jun 12; 58 (RR-6):1-29. PubMed PMID: 19521335.Search in Google Scholar

24. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing Ophthalmology. 2012 Nov;119(11):2408-10. doi: 10.1016/j.ophtha.2012.05.047. Epub 2012 Sep 1. PubMed PMID: 22944025.Search in Google Scholar

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