Federica Calì - Search Results

Year	Number of Results
2015	1
2016	1
2018	1
2019	4
2020	2
2021	2
2022	1
2023	2
2024	0

1

Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Lodato V, Parlapiano G, Calì F, Silvetti MS, Adorisio R, Armando M, El Hachem M, Romanzo A, Dionisi-Vici C, Digilio MC, Novelli A, Drago F, Raponi M, Baban A. Lodato V, et al. Among authors: cali f. J Cardiovasc Dev Dis. 2022 Jan 31;9(2):47. doi: 10.3390/jcdd9020047. J Cardiovasc Dev Dis. 2022. PMID: 35200700 Free PMC article. Review.

2

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.

Pugnaloni F, Onesimo R, Blandino R, Putotto C, Versacci P, Delogu AB, Leoni C, Trevisan V, Croci I, Calì F, Digilio MC, Zampino G, Marino B, Calcagni G. Pugnaloni F, et al. Among authors: cali f. Genes (Basel). 2023 Jan 5;14(1):146. doi: 10.3390/genes14010146. Genes (Basel). 2023. PMID: 36672887 Free PMC article. Review.

3

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A. Alesi V, et al. Among authors: cali f. Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31145527 Review.

4

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F. Baban A, et al. Among authors: cali f. Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1. Am J Med Genet A. 2019. PMID: 31368652 Review.

5

Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.

Baban A, Cicenia M, Travaglini L, Calì F, Vasco G, Francalanci P, Novelli A, Adorisio R, Amodeo A, Dallapiccola B, Bertini E, Drago F. Baban A, et al. Among authors: cali f. Minerva Pediatr (Torino). 2023 Feb;75(1):117-123. doi: 10.23736/S2724-5276.21.05969-3. Epub 2021 Apr 2. Minerva Pediatr (Torino). 2023. PMID: 33820410

6

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.

Lodato V, Orlando V, Alesi V, Di Tommaso S, Bengala M, Parlapiano G, Agnolucci E, Cicenia M, Calì F, Digilio MC, Drago F, Novelli A, Baban A. Lodato V, et al. Among authors: cali f. J Cardiovasc Dev Dis. 2021 Nov 19;8(11):159. doi: 10.3390/jcdd8110159. J Cardiovasc Dev Dis. 2021. PMID: 34821712 Free PMC article.

7

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Among authors: cali f. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175

8

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Baban A, Olivini N, Cantarutti N, Calì F, Vitello C, Valentini D, Adorisio R, Calcagni G, Alesi V, Di Mambro C, Villani A, Dallapiccola B, Digilio MC, Marino B, Carotti A, Drago F. Baban A, et al. Among authors: cali f. Am J Med Genet A. 2020 Jun;182(6):1342-1350. doi: 10.1002/ajmg.a.61586. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319738

9

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A. Morlino S, et al. Among authors: cali f. Am J Med Genet A. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30565850

10

Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.

Calì F, Bharti SK, Di Perna R, Brosh RM Jr, Pisani FM. Calì F, et al. Nucleic Acids Res. 2016 Jan 29;44(2):705-17. doi: 10.1093/nar/gkv1112. Epub 2015 Oct 25. Nucleic Acids Res. 2016. PMID: 26503245 Free PMC article.

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