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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: mammi c. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Priolo M, Palermo V, Aiello F, Ciolfi A, Pannone L, Muto V, Motta M, Mancini C, Radio FC, Niceta M, Leoni C, Pintomalli L, Carrozzo R, Rajola G, Mammì C, Zampino G, Martinelli S, Dallapiccola B, Pichierri P, Tartaglia M. Priolo M, et al. Among authors: mammi c. Clin Genet. 2022 Jul;102(1):12-21. doi: 10.1111/cge.14140. Epub 2022 Apr 17. Clin Genet. 2022. PMID: 35396703
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Macchiaiolo M, Panfili FM, Vecchio D, Gonfiantini MV, Cortellessa F, Caciolo C, Zollino M, Accadia M, Seri M, Chinali M, Mammì C, Tartaglia M, Bartuli A, Alfieri P, Priolo M. Macchiaiolo M, et al. Among authors: mammi c. Orphanet J Rare Dis. 2022 Jun 18;17(1):235. doi: 10.1186/s13023-022-02384-9. Orphanet J Rare Dis. 2022. PMID: 35717370 Free PMC article.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P, Macchiaiolo M, Collotta M, Montanaro FAM, Caciolo C, Cumbo F, Galassi P, Panfili FM, Cortellessa F, Zollino M, Accadia M, Seri M, Tartaglia M, Bartuli A, Mammì C, Vicari S, Priolo M. Alfieri P, et al. Among authors: mammi c. J Clin Med. 2022 Jul 14;11(14):4078. doi: 10.3390/jcm11144078. J Clin Med. 2022. PMID: 35887841 Free PMC article.
90 results