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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2009 1
2010 1
2011 4
2012 3
2013 1
2014 1
2015 2
2016 2
2018 1
2020 3
2021 4
2022 4
2023 4
2024 2

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29 results

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Page 1
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: cattaneo e. Front Neurol. 2023 Jan 9;13:1072256. doi: 10.3389/fneur.2022.1072256. eCollection 2022. Front Neurol. 2023. PMID: 36698902 Free PMC article.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: cattaneo e. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
Di Stasi M, Izzo G, Cattaneo E, Baraldini V, Doneda C, Righini A, Graziani D, Toto V, Parazzini C. Di Stasi M, et al. Among authors: cattaneo e. Neurogenetics. 2021 Mar;22(1):27-32. doi: 10.1007/s10048-020-00628-z. Epub 2020 Sep 8. Neurogenetics. 2021. PMID: 32901329
Natural history of non-lethal Raine syndrome during childhood.
Mameli C, Zichichi G, Mahmood N, Elalaoui SC, Mirza A, Dharmaraj P, Burrone M, Cattaneo E, Sheth J, Gandhi A, Kochar GS, Alkuraya FS, Kabra M, Mercurio G, Zuccotti G. Mameli C, et al. Among authors: cattaneo e. Orphanet J Rare Dis. 2020 Apr 16;15(1):93. doi: 10.1186/s13023-020-01373-0. Orphanet J Rare Dis. 2020. PMID: 32299476 Free PMC article.
Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV).
Stillo F, Mattassi R, Diociaiuti A, Neri I, Baraldini V, Dalmonte P, Amato B, Ametrano O, Amico G, Bianchini G, Campisi C, Cattaneo E, Causin F, Cavalli R, Colletti G, Corbeddu M, Coppo P, DE Fiores A, DI Giuseppe P, El Hachem M, Esposito F, Fulcheri E, Gandolfo C, Grussu F, Guglielmo A, Leuzzi M, Manunza F, Moneghini L, Monzani N, Nicodemi E, Occella C, Orso M, Pagella F, Paolantonio G, Pasetti F, Rollo M, Ruggiero F, Santecchia L, Spaccini L, Taurino M, Vaghi M, Vercellio G, Zama M, Zocca A, Aguglia M, Castronovo EL, DE Lorenzi E, Fontana E, Gusson E, Lanza J, Lizzio R, Mancardi MM, Rosina E. Stillo F, et al. Among authors: cattaneo e. Int Angiol. 2022 Apr;41(2 Suppl 1):1-130. doi: 10.23736/S0392-9590.22.04902-1. Int Angiol. 2022. PMID: 35546136 Free article. No abstract available.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: cattaneo e. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: cattaneo e. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
29 results