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140 related items for PubMed ID: 24555743
1. Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. Bui T, Young JW, Frausto RF, Markello TC, Glasgow BJ, Aldave AJ. Ophthalmic Genet; 2016; 37(1):76-80. PubMed ID: 24555743 [Abstract] [Full Text] [Related]
2. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. Soler VJ, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, Fournié PR, Guillaud C, Maurer-Stroh S, Hawthorne F, Suarez C, Kantelip B, Afshari NA, Creveaux I, Luo X, Meng W, Calvas P, Cassagne M, Arné JL, Rozen SG, Malecaze F, Young TL. J Med Genet; 2013 Apr; 50(4):246-54. PubMed ID: 23349227 [Abstract] [Full Text] [Related]
4. A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. Allingham RR, Seo B, Rampersaud E, Bembe M, Challa P, Liu N, Parrish T, Karolak L, Gilbert J, Pericak-Vance MA, Klintworth GK, Vance JM. Am J Hum Genet; 2001 Feb; 68(2):491-4. PubMed ID: 11170897 [Abstract] [Full Text] [Related]
13. Ultrastructural study of hereditary benign intraepithelial dyskeratosis. Sadeghi EM, Witkop CJ. Oral Surg Oral Med Oral Pathol; 1977 Oct; 44(4):567-77. PubMed ID: 269352 [Abstract] [Full Text] [Related]
14. The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. Sadeghi EM, Witkop CJ. Oral Surg Oral Med Oral Pathol; 1979 Oct; 48(4):342-6. PubMed ID: 388275 [Abstract] [Full Text] [Related]
15. Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. Cai R, Zhang C, Chen R, Bi Y, Le Q. Cornea; 2011 Dec; 30(12):1481-4. PubMed ID: 21993456 [Abstract] [Full Text] [Related]
16. Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant. Herlin T, Jørgensen SE, Høst C, Mitchell PS, Christensen MH, Laustsen M, Larsen DA, Schmidt FI, Christiansen M, Mogensen TH. Rheumatology (Oxford); 2020 Sep 01; 59(9):2334-2339. PubMed ID: 31873740 [Abstract] [Full Text] [Related]
17. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. J Invest Dermatol; 2010 Mar 01; 130(3):774-83. PubMed ID: 19727120 [Abstract] [Full Text] [Related]