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Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: sinibaldi l. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: sinibaldi l. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, Kuczynska EM, Proli F, Agazzi C, Limongelli D, Digilio MC, Dentici ML, Macchiaiolo M, Novelli A, Bartuli A, Sinibaldi L, Tartaglia M, Zampino G. Onesimo R, et al. Among authors: sinibaldi l. Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843. Genes (Basel). 2023. PMID: 37895192 Free PMC article.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. Cocciadiferro D, et al. Among authors: sinibaldi l. Medicine (Baltimore). 2020 Feb;99(8):e19169. doi: 10.1097/MD.0000000000019169. Medicine (Baltimore). 2020. PMID: 32080096 Free PMC article.
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Iarossi G, Sinibaldi L, Passarelli C, Coppe' AM, Cappelli A, Petrocelli G, Catena G, Perrone C, Falsini B, Novelli A, Bartuli A, Buzzonetti L. Iarossi G, et al. Among authors: sinibaldi l. Diagnostics (Basel). 2022 Sep 9;12(9):2183. doi: 10.3390/diagnostics12092183. Diagnostics (Basel). 2022. PMID: 36140584 Free PMC article.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: sinibaldi l. Am J Med Genet A. 2022 Apr;188(4):1149-1159. doi: 10.1002/ajmg.a.62632. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971082
107 results