Francesca Del Vecchio Blanco
Overview
Explore the profile of Francesca Del Vecchio Blanco including associated specialties, affiliations and a list of published articles.
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Articles
22
Citations
219
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Recent Articles
1.
Di Letto P, Budillon A, Rahman S, Del Vecchio Blanco F, Zanobio M, Scarpato M, et al.
Am J Med Genet A
. 2025 Mar;
:e64039.
PMID: 40062685
Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected...
2.
Zacchia M, Secondulfo F, Melluso A, Del Vecchio Blanco F, Di Iorio V, Torella A, et al.
Kidney Int Rep
. 2025 Feb;
10(2):375-385.
PMID: 39990901
Introduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes. The present study analyzed kidney function...
3.
Caiazza M, Budillon A, Monda E, Aruta G, Esposito A, Del Vecchio Blanco F, et al.
Am J Med Genet A
. 2023 Sep;
194(1):70-76.
PMID: 37712597
Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a...
4.
Fontana P, Budillon A, Simeone D, Del Vecchio Blanco F, Caiazza M, DAmico A, et al.
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510348
Glycosylphosphatidylinositol biosynthesis defect 15 is a rare autosomal recessive disorder due to biallelic loss of function of GPAA1. At the moment, less than twenty patients have been reported, usually compound...
5.
Torella A, Budillon A, Zanobio M, Del Vecchio Blanco F, Picillo E, Politano L, et al.
Int J Mol Sci
. 2023 Jun;
24(11).
PMID: 37298193
Disrupting variants in the gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes...
6.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo M, et al.
Nat Commun
. 2023 May;
14(1):2775.
PMID: 37188688
Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its...
7.
Zacchia M, Capolongo G, Del Vecchio Blanco F, Secondulfo F, Gupta N, Blasio G, et al.
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36981034
Mutations in cause a spectrum of glomerular disorders, including thin basement membrane nephropathy (TBMN) and Alport syndrome (AS). The wide application of next-generation sequencing (NGS) in the last few years...
8.
Marchese E, Caterino M, Viggiano D, Cevenini A, Tolone S, Docimo L, et al.
iScience
. 2022 Oct;
25(11):105230.
PMID: 36281451
Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying mutations. Twenty-nine patients with BBS and 30 controls underwent a serum-targeted...
9.
Di Dato F, Capalbo D, Mirra R, Del Vecchio Blanco F, Salerno M, Iorio R
Front Pediatr
. 2021 Dec;
9:767858.
PMID: 34858908
Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic...
10.
Zacchia M, Del Vecchio Blanco F, Torella A, Raucci R, Blasio G, Onore M, et al.
Clin Kidney J
. 2021 Jun;
14(6):1545-1551.
PMID: 34084454
Background: Urine concentrating defect is a common dysfunction in ciliopathies, even though its underlying mechanism and its prognostic meaning are largely unknown. This study assesses renal function in a cohort...