Maria A. Maffini

Milan, Italy

Last Updated: 09/26/2026

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Found 13 publications

Targeted silencing of GNAS in a human model of osteoprogenitor cells results in the deregulation of the osteogenic differentiation program.

Targeted silencing of GNAS in a human model of osteoprogenitor cells results in the deregulation of the osteogenic differentiation program.

Journal: Frontiers in endocrinology

Published: September 21, 2023

Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Journal: European journal of endocrinology

Published: February 23, 2023

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia.

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia.

Journal: Frontiers in genetics

Published: January 05, 2022

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: May 17, 2021

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

Journal: Frontiers in endocrinology

Published: May 28, 2019

Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.

Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.

Journal: Frontiers in genetics

Published: May 04, 2019

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.

Journal: Clinical epigenetics

Published: November 05, 2018

Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).

Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).

Journal: The Journal of clinical endocrinology and metabolism

Published: November 10, 2016

Fetal cell microchimerism in papillary thyroid cancer: A role in the outcome of the disease.

Fetal cell microchimerism in papillary thyroid cancer: A role in the outcome of the disease.

Journal: International journal of cancer

Published: June 08, 2015

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.

Journal: European journal of endocrinology

Published: January 08, 2015

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 16, 2014

Clinical pharmacology of atypical antipsychotics: an update.

Clinical pharmacology of atypical antipsychotics: an update.

Journal: EXCLI journal

Published: January 01, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026