Giorgia Mancano

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 17 publications

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

Journal: Journal of clinical medicine

Published: May 08, 2026

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

Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant.

Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant.

Journal: Pathologica

Published: August 26, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: April 10, 2024

Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Journal: Acta bio-medica : Atenei Parmensis

Published: January 15, 2023

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Journal: Nature communications

Published: April 09, 2022

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

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

Published: July 23, 2021

Genetic counseling during COVID-19 pandemic: Tuscany experience.

Genetic counseling during COVID-19 pandemic: Tuscany experience.

Journal: Molecular genetics & genomic medicine

Published: May 29, 2020

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.

Journal: Frontiers in immunology

Published: February 05, 2019

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.

Journal: Lupus

Published: November 09, 2016

Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.

Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.

Journal: Epigenetics & chromatin

Published: December 11, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026