Marcello Niceta

Rome, 00146, Italy

Last Updated: 09/26/2026

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Found 95 publications

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Journal: International journal of molecular sciences

Published: January 28, 2026

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.

Journal: Cells

Published: December 16, 2025

Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing.

Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing.

Journal: Current issues in molecular biology

Published: December 02, 2025

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 2025

Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic Perspectives.

Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic Perspectives.

Journal: Current issues in molecular biology

Published: November 05, 2025

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients.

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients.

Journal: European journal of pediatrics

Published: August 26, 2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Journal: Genes

Published: August 22, 2025

Early endocrine and metabolic profiles in prepubertal boys with 47,XXY Klinefelter syndrome: A retrospective cross-sectional study.

Early endocrine and metabolic profiles in prepubertal boys with 47,XXY Klinefelter syndrome: A retrospective cross-sectional study.

Journal: Annales d'endocrinologie

Published: August 07, 2025

Showing 1-12 of 95

Last Updated: 09/26/2026