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Epidermolytic Ichthyosis Sine Epidermolysis.
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E. Eskin-Schwartz M, et al. Am J Dermatopathol. 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. Am J Dermatopathol. 2017. PMID: 28121638 Free PMC article.
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, Cohen I, Geylis M, Nahum A, Yogev Y, Birk OS. Hadar N, et al. Eur J Hum Genet. 2023 Oct;31(10):1101-1107. doi: 10.1038/s41431-022-01278-5. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599939 Free PMC article.
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E. Peled A, et al. PLoS Genet. 2016 Oct 13;12(10):e1006369. doi: 10.1371/journal.pgen.1006369. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27736875 Free PMC article.
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. Mohamad J, et al. J Invest Dermatol. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Epub 2018 Jun 27. J Invest Dermatol. 2018. PMID: 29758285 Free PMC article.
Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JYW, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ariëns RAS, Sarig O, Sprecher E, Eskin-Schwartz M, Samlaska C, Simpson MA, Calonje E, Parsons M, McGrath JA. Supsrisunjai C, et al. J Invest Dermatol. 2020 Mar;140(3):624-635.e7. doi: 10.1016/j.jid.2019.08.441. Epub 2019 Sep 4. J Invest Dermatol. 2020. PMID: 31493396 Free article.
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M, Peled A, Samuelov L, Malki L, Malovitski K, Assaf S, Mohamad J, Meijers O, Eskin-Schwartz M, Sarig O, Sprecher E. Pavlovsky M, et al. Clin Exp Dermatol. 2021 Jun;46(4):663-668. doi: 10.1111/ced.14509. Epub 2020 Dec 20. Clin Exp Dermatol. 2021. PMID: 33190296
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O. Mohamad J, et al. Exp Dermatol. 2021 Sep;30(9):1290-1297. doi: 10.1111/exd.14345. Epub 2021 Apr 15. Exp Dermatol. 2021. PMID: 33786896
38 results