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Page 1
Mosaic Williams syndrome: A case report.
Kalantari S, Biagio MD, Valente EM, Rossi E, Sirchia F. Kalantari S, et al. Among authors: sirchia f. Am J Med Genet A. 2023 Jan;191(1):249-252. doi: 10.1002/ajmg.a.63002. Epub 2022 Oct 20. Am J Med Genet A. 2023. PMID: 36263864
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G, Arossa A, Ghirardello S, Kalantari S, Rossi C, Bonasoni MP, Cesari S, Rizzuti T, Giorgio E, Bassanese F, Scatigno AL, Meroni A, Melito C, Feltri M, Longo S, Figar TA, Andorno A, Gelli MC, Bertozzi M, Spinillo A, Riccipetitoni G, Valente EM, Paulli M, Sirchia F. Fiandrino G, et al. Among authors: sirchia f. Placenta. 2022 Aug;126:119-124. doi: 10.1016/j.placenta.2022.06.011. Epub 2022 Jun 30. Placenta. 2022. PMID: 35796063
46, XY Disorders of Sexual Development: a case report and theoretical framework.
Brambilla I, Landi E, Guarracino C, Pistone C, Tondina E, Sirchia F, Avolio L, Romano P, Cavaiuolo S, Licari A, Riccipetitoni G. Brambilla I, et al. Among authors: sirchia f. Acta Biomed. 2022 Jun 6;93(S3):e2022145. doi: 10.23750/abm.v93iS3.13067. Acta Biomed. 2022. PMID: 35666121 Free PMC article.
Definition and prevalence of familial short stature.
Grigoletto V, Occhipinti AA, Pellegrin MC, Sirchia F, Barbi E, Tornese G. Grigoletto V, et al. Among authors: sirchia f. Ital J Pediatr. 2021 Mar 9;47(1):56. doi: 10.1186/s13052-021-01018-3. Ital J Pediatr. 2021. PMID: 33750447 Free PMC article.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Among authors: sirchia f. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A. Carli D, et al. Among authors: sirchia f. Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21. Clin Genet. 2022. PMID: 35842840 Free PMC article.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: sirchia f. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
56 results