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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.
Feresin A, Stampalija T, Cappellani S, Bussani R, Faletra F, Murru F, Ulivi S, Suergiu S, Savarese P, Pedicini A, Policicchio M, Ruggiero R, Bosio B, Savarese G, Ardisia C. Feresin A, et al. Among authors: faletra f. Front Genet. 2022 Oct 25;13:982508. doi: 10.3389/fgene.2022.982508. eCollection 2022. Front Genet. 2022. PMID: 36386832 Free PMC article.
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.
Quadrifoglio M, Faletra F, Bussani R, Pecile V, Zennaro F, Grasso A, Zandonà L, Alberico S, Stampalija T. Quadrifoglio M, et al. Among authors: faletra f. J Ultrasound Med. 2016 Jun;35(6):1359-61. doi: 10.7863/ultra.15.07045. J Ultrasound Med. 2016. PMID: 27235459 No abstract available.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G. Morgan A, et al. Among authors: faletra f. Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018. Front Genet. 2018. PMID: 30622556 Free PMC article.
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.
Bottega R, Cappellani S, Fabretto A, Spinelli AM, Severini GM, Aloisio M, Faleschini M, Athanasakis E, Bruno I, Faletra F, Pecile V. Bottega R, et al. Among authors: faletra f. Mol Genet Genomic Med. 2019 Mar;7(3):e546. doi: 10.1002/mgg3.546. Epub 2019 Jan 9. Mol Genet Genomic Med. 2019. PMID: 30628197 Free PMC article.
When fingers point to the diagnosis.
Trombetta A, Magnolato A, Bruno I, Rabach I, Murru FM, Faletra F. Trombetta A, et al. Among authors: faletra f. Arch Dis Child. 2020 Nov;105(11):1117. doi: 10.1136/archdischild-2019-317514. Epub 2019 Aug 10. Arch Dis Child. 2020. PMID: 31401559 No abstract available.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, Ambrosini E, Cristalli CP, Mattiaccio A, Pariali M, De Fanti S, Faletra F, Grosso E, Cantone R, Mancini E, Mencarelli F, Pasini A, Wischmeijer A, Sciascia N, Seri M, La Manna G. Mantovani V, et al. Among authors: faletra f. Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020. Front Genet. 2020. PMID: 32457805 Free PMC article.
287 results