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Page 1
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: marcus n. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Rechavi E, Lev A, Simon AJ, Stauber T, Daas S, Saraf-Levy T, Broides A, Nahum A, Marcus N, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Almashanu S, Somech R. Rechavi E, et al. Among authors: marcus n. Front Immunol. 2017 Nov 6;8:1448. doi: 10.3389/fimmu.2017.01448. eCollection 2017. Front Immunol. 2017. PMID: 29167666 Free PMC article.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: marcus n. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A, Sharir I, Simon AJ, Levy S, Lee YN, Frizinsky S, Daas S, Saraf-Levy T, Broides A, Nahum A, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Stein J, Adam E, Hendel A, Marcus N, Almashanu S, Somech R. Lev A, et al. Among authors: marcus n. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2722-2731.e9. doi: 10.1016/j.jaip.2022.04.013. Epub 2022 Apr 26. J Allergy Clin Immunol Pract. 2022. PMID: 35487367
Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel.
Marcus N, Frizinsky S, Hagin D, Ovadia A, Hanna S, Farkash M, Maoz-Segal R, Agmon-Levin N, Broides A, Nahum A, Rosenberg E, Kuperman AA, Dinur-Schejter Y, Berkun Y, Toker O, Goldberg S, Confino-Cohen R, Scheuerman O, Badarneh B, Epstein-Rigbi N, Etzioni A, Dalal I, Somech R. Marcus N, et al. Front Immunol. 2021 Jan 14;11:614086. doi: 10.3389/fimmu.2020.614086. eCollection 2020. Front Immunol. 2021. PMID: 33519822 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: marcus n. 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.
311 results