Maria A. Caligo

Pisa, Italy

Last Updated: 09/26/2026

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Found 148 publications

Clinical features of MEN1 in children, adolescents, and young adults: a single-center study.

Clinical features of MEN1 in children, adolescents, and young adults: a single-center study.

Journal: Frontiers in endocrinology

Published: May 20, 2026

Clinical and genetic insights into Autosomal Dominant Hypocalcemia type 1: a single-center case series including genotype-phenotype correlations, pregnancy outcomes, and novel CASR variants.

Clinical and genetic insights into Autosomal Dominant Hypocalcemia type 1: a single-center case series including genotype-phenotype correlations, pregnancy outcomes, and novel CASR variants.

Journal: Journal of endocrinological investigation

Published: December 19, 2025

Enhancing genetic diagnosis of primary ciliary dyskinesia by copy number variants analysis.

Enhancing genetic diagnosis of primary ciliary dyskinesia by copy number variants analysis.

Journal: Respiratory medicine

Published: October 10, 2025

Role of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience.

Role of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience.

Journal: Journal of endocrinological investigation

Published: July 07, 2025

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy.

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy.

Journal: American journal of medical genetics. Part A

Published: January 25, 2025

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

Journal: Mitochondrion

Published: December 17, 2024

Diagnosis of hereditary ataxias: a real-world single center experience.

Diagnosis of hereditary ataxias: a real-world single center experience.

Journal: Journal of neurology

Published: July 29, 2024

Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.

Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.

Journal: International journal of molecular sciences

Published: June 15, 2024

The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.

The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.

Journal: Frontiers in endocrinology

Published: April 09, 2024

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Journal: medRxiv : the preprint server for health sciences

Published: March 18, 2024

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Journal: NPJ genomic medicine

Published: March 14, 2024

Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype.

Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype.

Journal: Thorax

Published: January 08, 2024

Showing 1-12 of 148

Last Updated: 09/26/2026