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Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis.
Ardisia C, De Falco L, Savarese G, Ruggiero R, Suero T, Petrillo N, Ianniello M, Sirica R, Mori A, Cino D, Barbato M, Vitiello G, Fico A. Ardisia C, et al. Genes (Basel). 2024 Nov 13;15(11):1464. doi: 10.3390/genes15111464. Genes (Basel). 2024. PMID: 39596664 Free PMC article.
A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.
De Falco L, Vitiello G, Savarese G, Suero T, Ruggiero R, Savarese P, Ianniello M, Petrillo N, Bruno M, Legnante A, Passaretti FF, Ardisia C, Di Spiezio Sardo A, Fico A. De Falco L, et al. Among authors: ardisia c. Genes (Basel). 2023 Mar 7;14(3):668. doi: 10.3390/genes14030668. Genes (Basel). 2023. PMID: 36980940 Free PMC article.
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: ardisia c. Front Genet. 2022 Oct 25;13:982508. doi: 10.3389/fgene.2022.982508. eCollection 2022. Front Genet. 2022. PMID: 36386832 Free PMC article.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: ardisia c. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Deletion 2p15-16.1 syndrome: case report and review.
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E. Prontera P, et al. Among authors: ardisia c. Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910216 Review.
2q31.2q32.3 deletion syndrome: report of an adult patient.
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. Prontera P, et al. Among authors: ardisia c. Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688. Am J Med Genet A. 2009. PMID: 19248183
17 results