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Simona Mellone

Explore the profile of Simona Mellone including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 29
Citations 213
Followers 0
Related Specialties
Endocrinology
Genetics
Neurology
Top 10 Co-Authors
Mara Giordano
Simonetta Bellone
Flavia Prodam
Antonella Petri
Deepak Babu
Gianni Bona
Michela Godi
Patricia Momigliano-Richiardi
Antonella Fanelli
Lucia Corrado
Published In
J Clin Endocrinol Metab
Front Genet
Genes (Basel)
Front Endocrinol (Lausanne)
Clin Endocrinol (Oxf)
Affiliations
Soon will be listed here.
Recent Articles
1.
A new mutation in the gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
Mancioppi V, Daffara T, Romanisio M, Ceccarini G, Pelosini C, Santini F, et al.
Front Endocrinol (Lausanne) . 2023 Jul; 14:1212729. PMID: 37501786
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare...
2.
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients
Gironi L, Esposto E, Zottarelli F, Giorgione R, Farinelli P, Zavattaro E, et al.
Melanoma Res . 2023 Jun; 33(5):425-430. PMID: 37352544
CDKN2A pathogenic variants are well known to be associated with cutaneous melanoma and noncutaneous tumors (NCTs). Herein, we investigated the temporal correlation between the first cutaneous melanoma and NCT both...
3.
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants
Mancioppi V, Pozzi E, Zanetta S, Missineo A, Savastio S, Barbetti F, et al.
Front Endocrinol (Lausanne) . 2023 May; 14:1143736. PMID: 37251668
Neonatal diabetes mellitus (NDM) is a rare genetic disease characterized by severe hyperglycemia requiring insulin therapy with onset mostly within the first 6 months and rarely between 6-12 months of...
4.
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders
Costa F, Beltrami E, Mellone S, Sacchetti S, Boggio E, Gigliotti C, et al.
Biomedicines . 2023 May; 11(4). PMID: 37189745
Monogenic autoimmune disorders represent an important tool to understand the mechanisms behind central and peripheral immune tolerance. Multiple factors, both genetic and environmental, are known to be involved in the...
5.
Co-Occurrence of a Pathogenic Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia
Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A, et al.
Genes (Basel) . 2022 Dec; 13(12). PMID: 36553457
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to...
6.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
Mellone S, Puricelli C, Vurchio D, Ronzani S, Favini S, Maruzzi A, et al.
Front Genet . 2022 Aug; 13:875182. PMID: 36035117
Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% of children and represents a public health challenge due to complexity of the etiology. Only few...
7.
COVID-19 first lockdown and outpatient hospital setting: a single center, real life study focusing on pattern changes in patients' ethnicities and treated dermatoses
Gironi L, Esposto E, Giorgione R, Zavattaro E, Farinelli P, Giordano M, et al.
Ital J Dermatol Venerol . 2022 Jun; 157(5):414-418. PMID: 35666665
Background: During the first Italian lockdown period, the imponent amount of hospital COVID-19 patients forced the healthcare system to re-organize visits but no information are available on outpatient ethnical patterns....
8.
A Long Contiguous Stretch of Homozygosity Disclosed a Novel Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature
Mellone S, Zavattaro M, Vurchio D, Ronzani S, Caputo M, Leone I, et al.
Genes (Basel) . 2021 Nov; 12(11). PMID: 34828315
Primary ovarian insufficiency (POI) refers to an etiologically heterogeneous disorder characterized by hypergonadotropic hypogonadism that represents a major cause of infertility in women under 40 years of age. Most cases...
9.
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis
Fanelli A, Vannelli S, Babu D, Mellone S, Cucci A, Monzani A, et al.
Mol Genet Genomic Med . 2021 Nov; 10(1):e1793. PMID: 34811950
Background: SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non-coding elements (CNEs) represent one of the most frequent cause of SHOX-haploinsufficiency. During the diagnostic workflow...
10.
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination
Cugno M, Macor P, Giordano M, Manfredi M, Griffini S, Grovetti E, et al.
J Autoimmun . 2021 Sep; 124:102728. PMID: 34592707
Extremely rare reactions characterized by thrombosis and thrombocytopenia have been described in subjects that received ChAdOx1 nCoV-19 vaccination 5-16 days earlier. Although patients with vaccine-induced thrombotic thrombocytopenia (VITT) have high...