about
Fibrocartilaginous mesenchymoma of bone: a single-institution experience with molecular investigations and a review of the literature.European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Pseudohypoparathyroidism type Ib in 2015.Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.The Complex GNAS Imprinted Locus and Mesenchymal Stem Cells Differentiation.Hypothyroidism associated with parathyroid disorders.The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.Filamin-A is essential for dopamine d2 receptor expression and signaling in tumorous lactotrophs.Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.The microRNA cluster C19MC is deregulated in parathyroid tumours.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.Inflammatory Markers and Genetic Polymorphisms in Workers Exposed to Flour DustPseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 PatientsEuropean guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA studyAssociation of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus StatementFGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic TransformationNovel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanismsMultiple hormone resistance and alterations of G-protein-coupled receptors signalingThe Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Francesca M Elli
@ast
Francesca M Elli
@en
Francesca M Elli
@es
Francesca M Elli
@nl
type
label
Francesca M Elli
@ast
Francesca M Elli
@en
Francesca M Elli
@es
Francesca M Elli
@nl
prefLabel
Francesca M Elli
@ast
Francesca M Elli
@en
Francesca M Elli
@es
Francesca M Elli
@nl
P106
P1153
35175795100
P31
P496
0000-0002-4643-3843