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Page 1
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R. Simon AJ, et al. Among authors: barel o. J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18. J Exp Med. 2016. PMID: 27432940 Free PMC article.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y. Somech R, et al. Among authors: barel o. J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10. J Immunol. 2017. PMID: 29127144 Free PMC article.
Somatic NRAS mutation in patient with generalized lymphatic anomaly.
Manevitz-Mendelson E, Leichner GS, Barel O, Davidi-Avrahami I, Ziv-Strasser L, Eyal E, Pessach I, Rimon U, Barzilai A, Hirshberg A, Chechekes K, Amariglio N, Rechavi G, Yaniv K, Greenberger S. Manevitz-Mendelson E, et al. Among authors: barel o. Angiogenesis. 2018 May;21(2):287-298. doi: 10.1007/s10456-018-9595-8. Epub 2018 Feb 3. Angiogenesis. 2018. PMID: 29397482
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Vardi I, Barel O, Sperber M, Schvimer M, Nunberg M, Field M, Ouahed J, Marek-Yagel D, Werner L, Haberman Y, Lahad A, Anikster Y, Rechavi G, Barshack I, McElwee JJ, Maranville J, Somech R, Snapper SB, Weiss B, Shouval DS. Vardi I, et al. Among authors: barel o. Dig Dis Sci. 2018 May;63(5):1192-1199. doi: 10.1007/s10620-018-4983-x. Epub 2018 Feb 26. Dig Dis Sci. 2018. PMID: 29484573 Free PMC article.
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y. Pode-Shakked B, et al. Among authors: barel o. BMC Med Genet. 2019 Mar 29;20(1):53. doi: 10.1186/s12881-019-0787-x. BMC Med Genet. 2019. PMID: 30922245 Free PMC article.
Neonatal osteoma cutis due to a mutation in GNAS.
Levy-Shraga Y, Barel O, Javasky E, Barzilai A, Greenberger S. Levy-Shraga Y, et al. Among authors: barel o. Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18. Pediatr Dermatol. 2019. PMID: 31215057
125 results