Giulietta Scuvera
Overview
Explore the profile of Giulietta Scuvera including associated specialties, affiliations and a list of published articles.
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Articles
34
Citations
602
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Recent Articles
1.
Prada E, Marchetti G, Pires Marafon D, Mazzocchi A, Scuvera G, Pezzani L, et al.
Genes (Basel)
. 2025 Jan;
16(1).
PMID: 39858651
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital...
2.
Prada E, Meossi C, Marafon D, Grilli F, Scuvera G, Marchisio P, et al.
Ital J Pediatr
. 2024 Sep;
50(1):187.
PMID: 39294711
Background: Some chromatinopathies may present with common clinical findings (intellectual disability, brain and limb malformation, facial dysmorphism). Furthermore, one of their cardinal shared features is growth dysregulation.We aimed to assess...
3.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, et al.
Genes Genomics
. 2022 Dec;
45(5):637-655.
PMID: 36454368
Background: Whole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and heterogeneous diseases, the interpretation of WES variants is...
4.
Cacciatori E, Aleo S, Scuvera G, Rigon C, Marchisio P, Cassina M, et al.
Ital J Pediatr
. 2022 Oct;
48(1):177.
PMID: 36183088
Background: Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost half of cases;...
5.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, et al.
Skelet Muscle
. 2022 Sep;
12(1):23.
PMID: 36175989
Background: Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence...
6.
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, et al.
Genes (Basel)
. 2021 Apr;
12(4).
PMID: 33920573
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead,...
7.
DE Stefano S, Grassi F, Lalatta F, Scuvera G, Brena M, Grillo P, et al.
Ital J Dermatol Venerol
. 2020 Oct;
156(5):580-587.
PMID: 33034432
Background: Living with a rare disease has profound effects on the patient's life and that of their entire family, with practical and psychosocial consequences. This is particularly true when the...
8.
Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone P, et al.
Front Cell Dev Biol
. 2020 Aug;
8:710.
PMID: 32850830
Usually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM)....
9.
Bianchessi D, Ibba M, Saletti V, Blasa S, Langella T, Paterra R, et al.
Genes (Basel)
. 2020 Jun;
11(6).
PMID: 32575496
Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including , ,...
10.
Melloni G, Eoli M, Cesaretti C, Bianchessi D, Ibba M, Esposito S, et al.
Cancers (Basel)
. 2019 Nov;
11(12).
PMID: 31766501
The occurrence of optic pathway gliomas (OPGs) in children with neurofibromatosis type 1 (NF1) still raises many questions regarding screening and surveillance because of the lack of robust prognostic factors....