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2017 5
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2023 6
2024 6

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47 results

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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
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: sirchia f. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
New Tools for Congenital Hyperinsulinism.
Da Lozzo P, Risso FM, Schleef J, Sirchia F, Sagredini R, Bussani R, D'Adamo AP, Barbi E, Tornese G. Da Lozzo P, et al. Among authors: sirchia f. Clin Pediatr (Phila). 2021 Jul;60(8):336-340. doi: 10.1177/00099228211013648. Epub 2021 May 10. Clin Pediatr (Phila). 2021. PMID: 33971777 No abstract available.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: sirchia f. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 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.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R. Trevisan V, et al. Among authors: sirchia f. Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article. Review.
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.
Valencic E, Piscianz E, Sirchia F, Tommasini A, Faletra F, Todaro F, Spinelli AM, Badolato R. Valencic E, et al. Among authors: sirchia f. Immunol Lett. 2019 Oct;214:52-54. doi: 10.1016/j.imlet.2019.08.003. Epub 2019 Aug 20. Immunol Lett. 2019. PMID: 31442541 No abstract available.
47 results