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Page 1
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M. Rinaldi B, et al. Among authors: soresina a. Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Orphanet J Rare Dis. 2017. PMID: 28399932 Free PMC article. Review.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: soresina a. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M. Chessa L, et al. Among authors: soresina a. Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5. Orphanet J Rare Dis. 2014. PMID: 24405665 Free PMC article. Clinical Trial.
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Soresina A, Micheli R, Magnani M. Menotta M, et al. Among authors: soresina a. Orphanet J Rare Dis. 2017 Jul 5;12(1):126. doi: 10.1186/s13023-017-0669-2. Orphanet J Rare Dis. 2017. PMID: 28679388 Free PMC article.
Clinical features and follow-up in patients with 22q11.2 deletion syndrome.
Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies. Cancrini C, et al. Among authors: soresina a. J Pediatr. 2014 Jun;164(6):1475-80.e2. doi: 10.1016/j.jpeds.2014.01.056. Epub 2014 Mar 20. J Pediatr. 2014. PMID: 24657119
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Mazza C, et al. Among authors: soresina a. Clin Immunol. 2011 Apr;139(1):6-11. doi: 10.1016/j.clim.2010.12.021. Epub 2011 Feb 3. Clin Immunol. 2011. PMID: 21295522
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
Cirillo E, Giardino G, Ricci S, Moschese V, Lougaris V, Conti F, Azzari C, Barzaghi F, Canessa C, Martire B, Badolato R, Dotta L, Soresina A, Cancrini C, Finocchi A, Montin D, Romano R, Amodio D, Ferrua F, Tommasini A, Baselli LA, Dellepiane RM, Polizzi A, Chessa L, Marzollo A, Cicalese MP, Putti MC, Pession A, Aiuti A, Locatelli F, Plebani A, Pignata C. Cirillo E, et al. Among authors: soresina a. J Allergy Clin Immunol. 2020 Nov;146(5):967-983. doi: 10.1016/j.jaci.2020.08.010. Epub 2020 Aug 19. J Allergy Clin Immunol. 2020. PMID: 32827505
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.
Carrabba M, Dellepiane RM, Cortesi M, Baselli LA, Soresina A, Cirillo E, Giardino G, Conti F, Dotta L, Finocchi A, Cancrini C, Milito C, Pacillo L, Cinicola BL, Cossu F, Consolini R, Montin D, Quinti I, Pession A, Fabio G, Pignata C, Pietrogrande MC, Badolato R. Carrabba M, et al. Among authors: soresina a. Allergy Asthma Clin Immunol. 2023 Apr 20;19(1):32. doi: 10.1186/s13223-023-00776-5. Allergy Asthma Clin Immunol. 2023. PMID: 37081481 Free PMC article.
Neurovisual Assessment in Children with Ataxia Telangiectasia.
Iodice A, Galli J, Molinaro A, Franzoni A, Micheli R, Pinelli L, Plebani A, Soresina A, Fazzi E. Iodice A, et al. Among authors: soresina a. Neuropediatrics. 2018 Feb;49(1):26-34. doi: 10.1055/s-0037-1607216. Epub 2017 Oct 9. Neuropediatrics. 2018. PMID: 28992644
122 results