Concetta Aloi

Genoa, Italy

Last Updated: 09/26/2026

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Found 16 publications

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Journal: European journal of human genetics : EJHG

Published: December 10, 2025

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Journal: Genes

Published: December 04, 2025

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Journal: Frontiers in medicine

Published: March 10, 2025

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.

Journal: Life (Basel, Switzerland)

Published: March 30, 2023

Automated Insulin Delivery (AID) Systems: Use and Efficacy in Children and Adults with Type 1 Diabetes and Other Forms of Diabetes in Europe in Early 2023.

Automated Insulin Delivery (AID) Systems: Use and Efficacy in Children and Adults with Type 1 Diabetes and Other Forms of Diabetes in Europe in Early 2023.

Journal: Life (Basel, Switzerland)

Published: February 11, 2023

"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.

"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.

Journal: International journal of molecular sciences

Published: December 01, 2022

Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.

Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.

Journal: Frontiers in endocrinology

Published: March 12, 2022

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

Journal: International journal of environmental research and public health

Published: January 26, 2022

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

Journal: International journal of molecular sciences

Published: June 25, 2021

A novel mutation in GCK gene: Beware of SGA child with diabetic mother.

A novel mutation in GCK gene: Beware of SGA child with diabetic mother.

Journal: Diabetes research and clinical practice

Published: May 17, 2021

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

Journal: Pediatric research

Published: January 16, 2019

A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.

A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.

Journal: Acta diabetologica

Published: July 27, 2017

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Last Updated: 09/26/2026