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Michela Malacarne

Explore the profile of Michela Malacarne including associated specialties, affiliations and a list of published articles. Areas
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Articles 53
Citations 282
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Recent Articles
1.
Danesino C, Biglioli F, Moneghini L, Valli R, Olivieri C, Testa B, et al.
Int J Mol Sci . 2024 Oct; 25(19). PMID: 39408992
Salivary gland pleomorphic adenoma (SGPA) is the most common type of benign epithelial tumor; it is observed more commonly in females (with a female-to-male ratio of 1.43:1), and the age...
2.
Conteduca G, Cangelosi D, Baldo C, Arado A, Testa B, Wagner R, et al.
Genes (Basel) . 2024 Sep; 15(9). PMID: 39336709
Germline variants in the NSD1 gene are responsible for Sotos syndrome, while somatic variants promote neoplastic cell transformation. Our previous studies revealed three alternative RNA isoforms of present in fibroblast...
3.
Boeri S, Bodria M, Ammendola R, Giacomini T, Tortora D, Nobili L, et al.
Pediatr Nephrol . 2024 Feb; 39(7):2115-2129. PMID: 38376554
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations...
4.
Conteduca G, Baldo C, Arado A, Martinheira Da Silva J, Testa B, Baldassari S, et al.
Stem Cell Res . 2024 Feb; 76:103324. PMID: 38301425
Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of...
5.
Danesino C, Gualtierotti M, Origi M, Cistaro A, Malacarne M, Massidda M, et al.
Diseases . 2024 Jan; 12(1). PMID: 38248360
Background: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany,...
6.
Siracusano M, Riccioni A, Frattale I, Arturi L, Dante C, Galasso C, et al.
Am J Med Genet A . 2023 Apr; 191(7):1836-1848. PMID: 37066965
Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused in the 90% of cases by pathogenetic variants of the Nuclear receptor binding SET Domain...
7.
Testa B, Conteduca G, Grasso M, Cecconi M, Lantieri F, Baldo C, et al.
Genes (Basel) . 2023 Feb; 14(2). PMID: 36833222
Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and...
8.
Vinciguerra M, Leto F, Cassara F, Tartaglia V, Malacarne M, Coviello D, et al.
Life (Basel) . 2023 Jan; 13(1). PMID: 36675969
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that...
9.
Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, et al.
Stem Cell Res . 2022 Dec; 66:103007. PMID: 36580887
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and...
10.
Grati F, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, et al.
Prenat Diagn . 2022 Nov; 42(13):1575-1586. PMID: 36403097
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by...