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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Zollino M, et al. Among authors: ponzi e. J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424144
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
Ponzi E, Gentile M, Agolini E, Matera E, Palumbi R, Buonadonna AL, Peschechera A, Gabellone A, Antonucci MF, Margari L. Ponzi E, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1289. doi: 10.1002/mgg3.1289. Epub 2020 May 16. Mol Genet Genomic Med. 2020. PMID: 32415730 Free PMC article. Review.
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
Cellamare A, Coccaro N, Nuzzi MC, Casieri P, Tampoia M, Maggiolini FAM, Gentile M, Ficarella R, Ponzi E, Conserva MR, Cardarelli L, Panarese A, Antonacci F, Gesario A. Cellamare A, et al. Among authors: ponzi e. Genes (Basel). 2021 Jun 7;12(6):877. doi: 10.3390/genes12060877. Genes (Basel). 2021. PMID: 34200357 Free PMC article.
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna ML, Ficarella R, Gelmini S, Marzulli L, Ponzi E, Gabellone A, Peschechera A, Alessio M, Margari L, Gentile M, D'Adamo P. Mignogna ML, et al. Among authors: ponzi e. Hum Mol Genet. 2022 May 4;31(9):1389-1406. doi: 10.1093/hmg/ddab320. Hum Mol Genet. 2022. PMID: 34761259 Free PMC article.
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Inchingolo AD, Patano A, Coloccia G, Ceci S, Inchingolo AM, Marinelli G, Malcangi G, Montenegro V, Laudadio C, Palmieri G, Bordea IR, Ponzi E, Orsini P, Ficarella R, Scarano A, Lorusso F, Dipalma G, Corsalini M, Gentile M, Venere DD, Inchingolo F. Inchingolo AD, et al. Among authors: ponzi e. Medicina (Kaunas). 2021 Dec 10;57(12):1350. doi: 10.3390/medicina57121350. Medicina (Kaunas). 2021. PMID: 34946295 Free PMC article.
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: ponzi e. Nat Commun. 2023 May 18;14(1):2839. doi: 10.1038/s41467-023-38736-7. Nat Commun. 2023. PMID: 37202388 Free PMC article. No abstract available.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: ponzi e. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: ponzi e. Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z. Nat Commun. 2023. PMID: 36928426 Free PMC article.
42 results