PubMed for id: 56353

Year	Number of Results
1978	1
1979	1
1980	1
1981	2
1983	2
1986	1
1987	1
1988	1
1989	1
1990	1
1993	5
1997	1
1998	2
1999	1
2000	1
2001	3
2002	1
2003	2
2004	3
2006	1
2007	2
2008	6
2009	2
2011	3
2012	2
2013	2
2014	2
2015	4
2016	5
2017	1
2018	4
2019	2
2020	2
2021	5
2023	4
2024	2

1

A defect in the NOG gene increases susceptibility to spontaneous superficial chronic corneal epithelial defects (SCCED) in boxer dogs.

Meurs KM, Montgomery K, Friedenberg SG, Williams B, Gilger BC. Meurs KM, et al. BMC Vet Res. 2021 Jul 26;17(1):254. doi: 10.1186/s12917-021-02955-1. BMC Vet Res. 2021. PMID: 34311726 Free PMC article.

2

Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.

Ernst J, Hiasat J, Alabek ML, Scanga HL, Motley W, Nischal KK. Ernst J, et al. Am J Med Genet A. 2021 Apr;185(4):1270-1274. doi: 10.1002/ajmg.a.62094. Epub 2021 Feb 5. Am J Med Genet A. 2021. PMID: 33547739

3

Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.

Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E. Abad-Morales V, et al. Cornea. 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. Cornea. 2021. PMID: 33346999 Free PMC article.

4

Corneal endothelial cell abnormalities in X-linked Alport syndrome.

Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J. Nicklason E, et al. Ophthalmic Genet. 2020 Feb;41(1):13-19. doi: 10.1080/13816810.2019.1709126. Epub 2020 Mar 11. Ophthalmic Genet. 2020. PMID: 32159412

5

Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein.

Roux LN, Petit I, Domart R, Concordet JP, Qu J, Zhou H, Joliot A, Ferrigno O, Aberdam D. Roux LN, et al. Stem Cells. 2018 Sep;36(9):1421-1429. doi: 10.1002/stem.2858. Epub 2018 Jul 18. Stem Cells. 2018. PMID: 29808941

6

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.

Lin BR, Le DJ, Chen Y, Wang Q, Chung DD, Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ. Lin BR, et al. PLoS One. 2016 Jun 16;11(6):e0157418. doi: 10.1371/journal.pone.0157418. eCollection 2016. PLoS One. 2016. PMID: 27309958 Free PMC article.

7

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

Janecke AR, Heinz-Erian P, Müller T. Janecke AR, et al. J Pediatr Gastroenterol Nutr. 2016 Aug;63(2):170-6. doi: 10.1097/MPG.0000000000001139. J Pediatr Gastroenterol Nutr. 2016. PMID: 26835907 Review.

8

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL. Oliver VF, et al. Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16. Ophthalmology. 2016. PMID: 26786512 Free article.

9

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

Jonsson F, Byström B, Davidson AE, Backman LJ, Kellgren TG, Tuft SJ, Koskela T, Rydén P, Sandgren O, Danielson P, Hardcastle AJ, Golovleva I. Jonsson F, et al. Hum Mutat. 2015 Apr;36(4):463-73. doi: 10.1002/humu.22764. Hum Mutat. 2015. PMID: 25676728

10

Franceschetti hereditary recurrent corneal erosion.

Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Lisch W, et al. Am J Ophthalmol. 2012 Jun;153(6):1073-81.e4. doi: 10.1016/j.ajo.2011.12.011. Epub 2012 Mar 7. Am J Ophthalmol. 2012. PMID: 22402249

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