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Page 1
Semidominant inheritance in epidermolytic ichthyosis.
Nousbeck J, Padalon-Brauch G, Fuchs-Telem D, Israeli S, Sarig O, Sheffer R, Sprecher E. Nousbeck J, et al. Among authors: sprecher e. J Invest Dermatol. 2013 Nov;133(11):2626-2628. doi: 10.1038/jid.2013.193. Epub 2013 Apr 19. J Invest Dermatol. 2013. PMID: 23604102 Free article. No abstract available.
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.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E. Basel-Vanagaite L, et al. Among authors: sprecher e. Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631308 Free PMC article.
581 results