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List of works by Francesca M Elli

A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype

scientific article published on 4 July 2012

Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.

scientific article

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

scientific article published on 07 January 2019

Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

scientific article published on 17 January 2014

Clinical utility gene card for: pseudohypoparathyroidism

scientific article published on 12 September 2012

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

article published in 2015

FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic Transformation

scientific article published on 20 February 2019

Fibrocartilaginous mesenchymoma of bone: a single-institution experience with molecular investigations and a review of the literature

scientific article

Filamin-A is essential for dopamine d2 receptor expression and signaling in tumorous lactotrophs.

scientific article published on 18 January 2012

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?

scientific article published on 06 June 2012

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

scientific article

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

scientific article published on 25 April 2018

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016

Hypothyroidism associated with parathyroid disorders.

scientific article

Inflammatory Markers and Genetic Polymorphisms in Workers Exposed to Flour Dust

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

scientific article published on 6 February 2018

Multiple hormone resistance and alterations of G-protein-coupled receptors signaling

scientific article published on 31 January 2018

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

scientific article published on 16 January 2015

Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

scientific article published on 22 April 2016

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

article

Pseudohypoparathyroidism type Ib in 2015.

scientific article published on 21 April 2015

Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.

scientific article published in January 2013

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

scientific article

The Complex GNAS Imprinted Locus and Mesenchymal Stem Cells Differentiation

scientific article

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

scientific article published on 01 November 2017

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

scientific article published on 18 July 2016

The microRNA cluster C19MC is deregulated in parathyroid tumours.

scientific article published on 26 July 2012

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