PubMed (cited) for id: 600805

Year	Number of Results
1994	2
1995	3
1996	1
1999	2
2000	1
2001	2
2002	1
2003	1
2007	1
2008	2
2009	1
2013	1
2015	1
2022	1
2024	0

1

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D, Zhang X. Wang R, et al. Front Med. 2022 Oct;16(5):808-814. doi: 10.1007/s11684-021-0878-x. Epub 2022 Mar 21. Front Med. 2022. PMID: 35314946

2

A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.

Sartelet A, Harland C, Tamma N, Karim L, Bayrou C, Li W, Ahariz N, Coppieters W, Georges M, Charlier C. Sartelet A, et al. Anim Genet. 2015 Oct;46(5):566-70. doi: 10.1111/age.12342. Epub 2015 Sep 15. Anim Genet. 2015. PMID: 26370913

3

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

Barzegar M, Mozafari N, Kariminejad A, Asadikani Z, Ozoemena L, McGrath JA. Barzegar M, et al. Br J Dermatol. 2013 Dec;169(6):1353-6. doi: 10.1111/bjd.12522. Br J Dermatol. 2013. PMID: 23869449

4

Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.

Graves KT, Henney PJ, Ennis RB. Graves KT, et al. Anim Genet. 2009 Feb;40(1):35-41. doi: 10.1111/j.1365-2052.2008.01795.x. Epub 2008 Nov 11. Anim Genet. 2009. PMID: 19016681

5

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. Fine JD, et al. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18. J Am Acad Dermatol. 2008. PMID: 18374450

6

Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.

Figueira EC, Crotty A, Challinor CJ, Coroneo MT, Murrell DF. Figueira EC, et al. Clin Exp Ophthalmol. 2007 Mar;35(2):163-6. doi: 10.1111/j.1442-9071.2006.01436.x. Clin Exp Ophthalmol. 2007. PMID: 17362460

7

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. McLean WH, et al. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915477

8

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Nakano A, et al. Hum Genet. 2002 Jan;110(1):41-51. doi: 10.1007/s00439-001-0630-1. Epub 2001 Nov 13. Hum Genet. 2002. PMID: 11810295

9

Transposable B2 SINE elements can provide mobile RNA polymerase II promoters.

Ferrigno O, Virolle T, Djabari Z, Ortonne JP, White RJ, Aberdam D. Ferrigno O, et al. Nat Genet. 2001 May;28(1):77-81. doi: 10.1038/ng0501-77. Nat Genet. 2001. PMID: 11326281

10

B2 elements present in the human genome.

Mayorov VI, Rogozin IB, Elisaphenko EA, Adkison LR. Mayorov VI, et al. Mamm Genome. 2000 Feb;11(2):177-9. doi: 10.1007/s003350010033. Mamm Genome. 2000. PMID: 10656935 No abstract available.

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