Publications by authors named "Simona Mellone"

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Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience.
Laura Cristina Gironi, Francesca Zottarelli, Elia Esposto, Edoardo Cammarata, Giulia Giorgione, Simona Mellone

Melanoma Res· December 2025

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Bridging Genotype to Phenotype in -Related Syndrome: Evidence from RNA-Seq, FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.
Davide Politano, Renato Borgatti, Giulia Borgonovi, Angelina Cistaro, Cesare Danesino, Simona Mellone

Genes (Basel)· October 2025

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Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.
Simona Mellone, Alice Spano, Denise Vurchio, Giulia Borgonovi, Alessandro Ugonotti

Front Genet· July 2025

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Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity.
Cristina Partenope, Giorgia Monteleone, Silvano Andorno, Antonella Petri, Flavia Prodam, Simona Mellone

Sci Rep· April 2025

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Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients.
Laura Cristina Gironi, Elia Esposto, Francesca Zottarelli, Roberto Giorgione, Pamela Farinelli, Simona Mellone

Melanoma Res· October 2023

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A new mutation in the gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Simona Mellone

Front Endocrinol (Lausanne)· July 2023

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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.
Valentina Mancioppi, Erica Pozzi, Sara Zanetta, Anna Missineo, Silvia Savastio, Simona Mellone

Front Endocrinol (Lausanne)· June 2023

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Genes and Microbiota Interaction in Monogenic Autoimmune Disorders.
Federica Costa, Eleonora Beltrami, Simona Mellone, Sara Sacchetti, Elena Boggio

Biomedicines· April 2023

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Co-Occurrence of a Pathogenic Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Simona Mellone, Enrica Bertelli, Barbara Roviglione, Denise Vurchio, Sara Ronzani

Genes (Basel)· November 2022

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COVID-19 first lockdown and outpatient hospital setting: a single center, real life study focusing on pattern changes in patients' ethnicities and treated dermatoses.
Laura C Gironi, Elia Esposto, Roberto Giorgione, Elisa Zavattaro, Pamela Farinelli, Simona Mellone

Ital J Dermatol Venerol· October 2022

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Simona Mellone, Chiara Puricelli, Denise Vurchio, Sara Ronzani, Simone Favini

Front Genet· August 2022

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Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Antonella Fanelli, Silvia Vannelli, Deepak Babu, Simona Mellone, Alessia Cucci

Mol Genet Genomic Med· January 2022

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Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination.
Massimo Cugno, Paolo Macor, Mara Giordano, Marcello Manfredi, Samantha Griffini, Simona Mellone

J Autoimmun· November 2021

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A Long Contiguous Stretch of Homozygosity Disclosed a Novel Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.
Simona Mellone, Marco Zavattaro, Denise Vurchio, Sara Ronzani, Marina Caputo

Genes (Basel)· October 2021

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Retrospective Diagnosis of a Novel Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature.
Valentina Mancioppi, Flavia Prodam, Simona Mellone, Roberta Ricotti, Enza Giglione

Front Genet· August 2021

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Screening for haemoglobin disorders: The experience of the piedmont north-eastern quadrant.
Roberta Rolla, Giulia Paglino, Chiara Puricelli, Simona Mellone, Maurizio Sciancalepore

Int J Lab Hematol· April 2021

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Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Deepak Babu, Silvia Vannelli, Antonella Fanelli, Simona Mellone, Ave Maria Baffico

Eur J Hum Genet· January 2021

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The first case of the p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
Lucia Corrado, Viviana Pensato, Roberta Croce, Alice Di Pierro, Simona Mellone

Amyotroph Lateral Scler Frontotemporal Degener· May 2020

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Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Deepak Babu, Antonella Fanelli, Simona Mellone, Ranjith Muniswamy, Malgorzata Wasniewska

Clin Endocrinol (Oxf)· March 2019

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Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli

BMC Med Genomics· January 2019

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Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
Claudio Musetti, Deepak Babu, Ileana Fusco, Simona Mellone, Andrea Zonta

J Nephrol· June 2016

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Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.
Ileana Fusco, Deepak Babu, Simona Mellone, Nadia Barizzone, Flavia Prodam

Pediatr Res· February 2016

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Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Francesca De Rienzo, Simona Mellone, Simonetta Bellone, Deepak Babu, Ileana Fusco

Clin Endocrinol (Oxf)· December 2015

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Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.
Deepak Babu, Simona Mellone, Ileana Fusco, Antonella Petri, Gillian E Walker

Endocrinology· May 2014

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Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.
Claudio Musetti, Marco Quaglia, Simona Mellone, Alessia Pagani, Ileana Fusco

Nephrology (Carlton)· April 2014

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