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42 results

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Page 1
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A. Barili V, et al. Among authors: ormitti f. Eur J Med Genet. 2022 Dec;65(12):104638. doi: 10.1016/j.ejmg.2022.104638. Epub 2022 Oct 8. Eur J Med Genet. 2022. PMID: 36216272
Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.
Di Mascio D, Khalil A, Pilu G, Rizzo G, Caulo M, Liberati M, Giancotti A, Lees C, Volpe P, Buca D, Oronzi L, D'Amico A, Tinari S, Stampalija T, Fantasia I, Pasquini L, Masini G, Brunelli R, D'Ambrosio V, Muzii L, Manganaro L, Antonelli A, Ercolani G, Ciulla S, Saccone G, Maruotti GM, Carbone L, Zullo F, Olivieri C, Ghi T, Frusca T, Dall'Asta A, Visentin S, Cosmi E, Forlani F, Galindo A, Villalain C, Herraiz I, Sileo FG, Mendez Quintero O, Salsi G, Bracalente G, Morales-Roselló J, Loscalzo G, Pellegrino M, De Santis M, Lanzone A, Parazzini C, Lanna M, Ormitti F, Toni F, Murru F, Di Maurizio M, Trincia E, Garcia R, Bennike Bjørn Petersen O, Neerup L, Sandager P, Prefumo F, Pinelli L, Mappa I, Acuti Martellucci C, Flacco ME, Manzoli L, Giangiordano I, Nappi L, Scambia G, Berghella V, D'Antonio F. Di Mascio D, et al. Among authors: ormitti f. Eur J Obstet Gynecol Reprod Biol. 2021 Dec;267:105-110. doi: 10.1016/j.ejogrb.2021.10.014. Epub 2021 Oct 23. Eur J Obstet Gynecol Reprod Biol. 2021. PMID: 34773875
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
Petraroli M, Percesepe A, Piane M, Ormitti F, Castellone E, Gnocchi M, Messina G, Bernardi L, Patianna VD, Esposito SMR, Street ME. Petraroli M, et al. Among authors: ormitti f. Front Endocrinol (Lausanne). 2023 May 10;14:1018441. doi: 10.3389/fendo.2023.1018441. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37234811 Free PMC article.
The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.
Ramirez Zegarra R, Casati D, Volpe N, Lanna M, Dall'Asta A, Chiarelli A, Ormitti F, Percesepe A, Montaguti E, Labadini C, Salsi G, di Pasquo E, Bonasoni MP, Quarello E, Pilu G, Grisolia G, Righini A, Ghi T. Ramirez Zegarra R, et al. Among authors: ormitti f. Am J Obstet Gynecol MFM. 2023 Dec;5(12):101198. doi: 10.1016/j.ajogmf.2023.101198. Epub 2023 Oct 20. Am J Obstet Gynecol MFM. 2023. PMID: 37866717 Free article.
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group. Vitale G, et al. Among authors: ormitti f. Eur J Paediatr Neurol. 2019 May;23(3):410-417. doi: 10.1016/j.ejpn.2019.02.006. Epub 2019 Feb 22. Eur J Paediatr Neurol. 2019. PMID: 30837194
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Among authors: ormitti f. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.
Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study.
Conte G, Caschera L, Parazzini C, Cinnante C, Izzo G, Talenti G, Severino M, Ormitti F, Palumbo G, Pinelli L, Antonelli A, Manganaro L, Boito S, Rossi A, Triulzi F, Righini A. Conte G, et al. Among authors: ormitti f. Eur Radiol. 2020 Apr;30(4):2161-2170. doi: 10.1007/s00330-019-06538-5. Epub 2020 Jan 3. Eur Radiol. 2020. PMID: 31900695
Neonatal forearm compartment syndrome: look for cerebral stroke.
Pavlidis E, Spagnoli C, Duca M, Ormitti F, Magnani C, Pisani F. Pavlidis E, et al. Among authors: ormitti f. J Pediatr. 2014 Feb;164(2):427.e1. doi: 10.1016/j.jpeds.2013.10.018. Epub 2013 Nov 16. J Pediatr. 2014. PMID: 24252794 No abstract available.
42 results