Luigia Cinque

Foggia, 71013, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Journal: Cells

Published: October 27, 2025

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Journal: Italian journal of pediatrics

Published: April 24, 2024

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

Journal: Frontiers in endocrinology

Published: April 14, 2023

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.

Journal: Genes

Published: November 05, 2021

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Journal: Human genetics

Published: June 28, 2021

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.

Journal: Biomedicines

Published: November 17, 2020

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Journal: Human molecular genetics

Published: July 17, 2020

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

Journal: Genes

Published: June 05, 2020

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.

Journal: International journal of endocrinology

Published: November 13, 2019

Molecular pathogenesis of parathyroid tumours.

Molecular pathogenesis of parathyroid tumours.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: November 28, 2018

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

Journal: Oncotarget

Published: November 11, 2017

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

Journal: Endocrine connections

Published: October 22, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026