Lista de obras - Francesca M Elli - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Clinical utility gene card for: pseudohypoparathyroidism

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Hypothyroidism associated with parathyroid disorders.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

article

Pseudohypoparathyroidism type Ib in 2015.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

The Complex GNAS Imprinted Locus and Mesenchymal Stem Cells Differentiation

artículo científico publicado en 2016

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.

artículo científico publicado en 2016

The microRNA cluster C19MC is deregulated in parathyroid tumours.

artículo científico publicado en 2012

Lista de obras de Francesca M Elli

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

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

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

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

Clinical utility gene card for: pseudohypoparathyroidism

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

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

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

FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic Transformation

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

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

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

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

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

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

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

Hypothyroidism associated with parathyroid disorders.

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

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

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

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

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

Pseudohypoparathyroidism type Ib in 2015.

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

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

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

The Complex GNAS Imprinted Locus and Mesenchymal Stem Cells Differentiation

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

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

The microRNA cluster C19MC is deregulated in parathyroid tumours.