Lidia Pezzani
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Explore the profile of Lidia Pezzani including associated specialties, affiliations and a list of published articles.
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36
Citations
494
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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.
Castiglioni S, Pezzoli L, Pezzani L, Lettieri A, Di Fede E, Cereda A, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):481.
PMID: 39707491
Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23...
3.
Meossi C, Carrer A, Ciaccio C, Pezzoli L, Pezzani L, Silipigni R, et al.
Genes (Basel)
. 2024 Nov;
15(11).
PMID: 39596641
: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable...
4.
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, et al.
Ital J Pediatr
. 2024 Sep;
50(1):192.
PMID: 39334216
Background: Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular...
5.
Di Feo M, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, et al.
Ann Clin Transl Neurol
. 2024 Aug;
11(10):2745-2755.
PMID: 39198997
Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or...
6.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Di Fede E, Lettieri A, Taci E, Castiglioni S, Rebellato S, Parodi C, et al.
Hum Genet
. 2024 May;
143(6):747-759.
PMID: 38753158
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ubiquitously expressed...
7.
Pezzani L, Pezzoli L, Rosina E, Scatigno A, Cereda A, Lucca C, et al.
Am J Med Genet A
. 2023 Dec;
194(5):e63512.
PMID: 38135466
Post-zygotic mosaicism is a well-known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post-zygotic de novo mutational events. It has...
8.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, et al.
Mol Genet Genomic Med
. 2023 Dec;
12(1):e2316.
PMID: 38041506
Background: The recent guidelines suggest the use of genome-wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However,...
9.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, et al.
Clin Genet
. 2023 Nov;
105(3):313-316.
PMID: 37990933
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly -...
10.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan K, Depienne C, Elpeleg O, et al.
Genet Med
. 2023 Apr;
25(7):100859.
PMID: 37092538
Purpose: The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9. Methods: Individuals were clinically examined. Variants were identified using exome...