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Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: cortellessa f. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
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: cortellessa f. 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: cortellessa f. J Clin Med. 2022 Jul 14;11(14):4078. doi: 10.3390/jcm11144078. J Clin Med. 2022. PMID: 35887841 Free PMC article.
Molecular tools for the genomic assessment of oocyte's reproductive competence.
Picchetta L, Caroselli S, Figliuzzi M, Cogo F, Zambon P, Costa M, Pergher I, Patassini C, Cortellessa F, Zuccarello D, Poli M, Capalbo A; SIERR. Picchetta L, et al. Among authors: cortellessa f. J Assist Reprod Genet. 2022 Apr;39(4):847-860. doi: 10.1007/s10815-022-02411-5. Epub 2022 Feb 5. J Assist Reprod Genet. 2022. PMID: 35124783 Free PMC article. Review.
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Panfili FM, Valente P, Ficari A, Cortellessa F, Vecchio D, Gonfiantini MV, Buonuomo PS, Colafati GS, Agolini E, Bartuli M, Modugno AC, Macchiaiolo M. Panfili FM, et al. Among authors: cortellessa f. Ital J Pediatr. 2023 Aug 23;49(1):101. doi: 10.1186/s13052-023-01503-x. Ital J Pediatr. 2023. PMID: 37612758 Free PMC article.
Familial Mediterranean fever: breaking all the (genetic) rules.
Stella A, Cortellessa F, Scaccianoce G, Pivetta B, Settimo E, Portincasa P. Stella A, et al. Among authors: cortellessa f. Rheumatology (Oxford). 2019 Mar 1;58(3):463-467. doi: 10.1093/rheumatology/key328. Rheumatology (Oxford). 2019. PMID: 30476289