MN
Marcello Niceta
Bambino Gesù Children's Hospital
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Metabolism and Genetic Disorders
0000-0003-4766-7753
Employment
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Ospedale Pediatrico Bambino Gesù Principal Investigator
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (76)
- Early endocrine and metabolic profiles in prepubertal boys with 47,XXY Klinefelter syndrome: A retrospective cross-sectional study Save
- A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization Save
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome Save
- Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications Save
- Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing Save
- Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients Save
- Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic Perspectives Save
- Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome Save
- The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles Save
- Precocious Puberty and Benign Variants in Female Children: Etiology, Diagnostic Challenges, and Clinical Management Save
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights Save
- Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1 Save
- The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies Save
- Water-Soluble Vitamins: Hypo- and Hypervitaminosis in Pediatric Population Save
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant Save
- Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis Save
- DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism Save
- Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9 Save
- Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation Save
- POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum Save