Flavio Faletra
Overview
Explore the profile of Flavio Faletra including associated specialties, affiliations and a list of published articles.
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105
Citations
1008
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Recent Articles
1.
Contro G, Baroni M, Caraffi S, Napoli M, Artuso R, Giliberti A, et al.
Clin Genet
. 2025 Feb;
PMID: 39971730
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability...
2.
Feresin A, Spedicati B, Zampieri S, Morgan A, Magnolato A, Tesser A, et al.
Am J Med Genet A
. 2024 Dec;
197(4):e63953.
PMID: 39641441
Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor...
3.
Dal Secco C, Tel A, Allegri L, Baldan F, Curcio F, Sembronio S, et al.
Front Oncol
. 2024 Nov;
14:1480302.
PMID: 39555458
Introduction: Liquid biopsy is gaining momentum for diagnosis and surveillance of cancer patients. Indeed, head and neck squamous cell carcinoma (HNSCC) is burdened with poor prognosis and high recurrence rates...
4.
Imazio M, Faletra F, Zucco J, Mio C, Carraro M, Gava A, et al.
J Cardiovasc Med (Hagerstown)
. 2024 Sep;
25(11):799-804.
PMID: 39347728
Aims: Presence of family cases and multiple recurrences of pericarditis suggest the existence of a possible genetic background in at least 10% of cases. The aim of the present study...
5.
Baldan F, Demori E, Gnan C, Passon N, Damante G, Mio C, et al.
Gene
. 2024 Sep;
933:148956.
PMID: 39312981
Chromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy. This study...
6.
Mio C, Zucco J, Fabbro D, Bregant E, Baldan F, Allegri L, et al.
Clin Genet
. 2024 Jun;
106(4):394-402.
PMID: 38837338
In the last decade, an incredible improvement has been made in elucidating the genetic bases of cardiomyopathies. Here we report the impact of either the European Society of Cardiology (ESC)...
7.
Zucco J, Baldan F, Allegri L, Bregant E, Passon N, Franzoni A, et al.
J Hum Genet
. 2024 Mar;
69(6):271-282.
PMID: 38459225
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research...
8.
Elefante P, Spedicati B, Faletra F, Pignata L, Cerrato F, Riccio A, et al.
Ital J Pediatr
. 2023 Sep;
49(1):127.
PMID: 37749604
Background: Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less...
9.
Fantasia I, Faletra F, Bussani R, Murru F, Ottaviani Giammarco C, Travan L, et al.
J Matern Fetal Neonatal Med
. 2023 Jul;
36(2):2232075.
PMID: 37414745
Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The...
10.
Fantasia I, Catagini S, Zamagni G, Greco P, Bianchini I, Bussolaro S, et al.
Prenat Diagn
. 2023 Jun;
43(7):929-936.
PMID: 37264704
Objectives: To evaluate the clinical significance of nuchal translucency (NT) between the 95th-99th percentile in terms of typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital defects and postnatal outcome....