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Year Number of Results
2012 2
2013 1
2015 1
2016 2
2018 2
2019 3
2020 2
2021 4
2022 3
2023 1
2024 1

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19 results

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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: zonta a. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: zonta a. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S, Puricelli C, Vurchio D, Ronzani S, Favini S, Maruzzi A, Peruzzi C, Papa A, Spano A, Sirchia F, Mandrile G, Pelle A, Rasmini P, Vercellino F, Zonta A, Rabbone I, Dianzani U, Viri M, Giordano M. Mellone S, et al. Among authors: zonta a. Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022. Front Genet. 2022. PMID: 36035117 Free PMC article.
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Micalizzi A, et al. Among authors: zonta a. Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932191 Free PMC article.
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Bissler JJ, Nonomura N, Budde K, Zonnenberg BA, Fischereder M, Voi M, Louveau AL, Herbst F, Bebin EM, Curatolo P, Zonta A, Belousova E. Bissler JJ, et al. Among authors: zonta a. PLoS One. 2018 Sep 7;13(9):e0201005. doi: 10.1371/journal.pone.0201005. eCollection 2018. PLoS One. 2018. PMID: 30192751 Free PMC article. Clinical Trial.
19 results