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Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. van der Velden JJ, et al. Among authors: sprecher e. Exp Dermatol. 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650. Exp Dermatol. 2015. PMID: 25644735
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E. Ciubotaru D, et al. Among authors: sprecher e. Arch Dermatol. 2003 Apr;139(4):498-505. doi: 10.1001/archderm.139.4.498. Arch Dermatol. 2003. PMID: 12707098
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: sprecher e. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL, Sprecher E. Indelman M, et al. Among authors: sprecher e. Clin Exp Dermatol. 2007 Mar;32(2):191-6. doi: 10.1111/j.1365-2230.2006.02335.x. Clin Exp Dermatol. 2007. PMID: 17342797
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. Lugassy J, et al. Among authors: sprecher e. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. J Invest Dermatol. 2008. PMID: 18049449 Free article.
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E. Nousbeck J, et al. Among authors: sprecher e. Am J Hum Genet. 2008 May;82(5):1114-21. doi: 10.1016/j.ajhg.2008.03.014. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439547 Free PMC article.
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E. Hershkovitz D, et al. Among authors: sprecher e. Clin Exp Dermatol. 2009 Mar;34(2):224-8. doi: 10.1111/j.1365-2230.2008.02733.x. Epub 2008 Nov 6. Clin Exp Dermatol. 2009. PMID: 19018793
570 results