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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. Among authors: somech r. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146
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: somech r. 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.
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: somech r. 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.
Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis.
Werner L, Nunberg MY, Rechavi E, Lev A, Braun T, Haberman Y, Lahad A, Shteyer E, Schvimer M, Somech R, Weiss B, Lee YN, Shouval DS. Werner L, et al. Among authors: somech r. Clin Exp Immunol. 2019 Apr;196(1):1-11. doi: 10.1111/cei.13247. Epub 2019 Jan 27. Clin Exp Immunol. 2019. PMID: 30556140 Free PMC article.
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. Ziv A, et al. Among authors: somech r. J Clin Immunol. 2020 Oct;40(7):1010-1019. doi: 10.1007/s10875-020-00829-z. Epub 2020 Jul 24. J Clin Immunol. 2020. PMID: 32710398
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
Vardi I, Chermesh I, Werner L, Barel O, Freund T, McCourt C, Fisher Y, Pinsker M, Javasky E, Weiss B, Rechavi G, Hagin D, Snapper SB, Somech R, Konnikova L, Shouval DS. Vardi I, et al. Among authors: somech r. Front Immunol. 2020 Sep 4;11:1775. doi: 10.3389/fimmu.2020.01775. eCollection 2020. Front Immunol. 2020. PMID: 33013830 Free PMC article.
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
van Rijn JM, Werner L, Aydemir Y, Spronck JMA, Pode-Shakked B, van Hoesel M, Shimshoni E, Polak-Charcon S, Talmi L, Eren M, Weiss B, H J Houwen R, Barshack I, Somech R, Nieuwenhuis EES, Sagi I, Raas-Rothschild A, Middendorp S, Shouval DS. van Rijn JM, et al. Among authors: somech r. Int J Mol Sci. 2020 Nov 2;21(21):8200. doi: 10.3390/ijms21218200. Int J Mol Sci. 2020. PMID: 33147779 Free PMC article.
202 results