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Year Number of Results
2012 1
2015 4
2018 2
2019 2
2020 2
2021 3
2022 2
2023 3
2024 0

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17 results

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Page 1
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: ponzi e. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Among authors: ponzi e. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 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.
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.
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.
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.
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.
17 results