ELLI, FRANCESCA MARTA

ELLI, FRANCESCA MARTA  

Dipartimento di Scienze Cliniche e di Comunità  

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Risultati 1 - 20 di 46 (tempo di esecuzione: 0.029 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance 2019 F. M. ElliM. A. MaffiniA. PirelliM. ArosioG. Mantovani + Article (author) -
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype 2012 F.M. ElliC. GiavoliL. DioniM. CrippaP. FinelliS. BergamaschiF. MoscaA. SpadaP. Beck Peccoz + Article (author) -
Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism Type 2014 G. MantovaniF. Elli Book Part (author) -
Analysis of genetic variants of phosphodiesterase 11A (PDE11A) in acromegalic patients 2009 E. PeverelliF. ErmeticiM. FilopantiF. ElliC. RonchiG. MantovaniS. FerreroS. BosariP. Beck-PeccozA. LaniaA. Spada Article (author) -
Association of GNAS Imprinting Defects and Deletions of Chromosome 2 in Two Patients : Clues Explaining Phenotypic Heterogeneity in Pseudohypoparathyroidism Type 1B/iPPSD3 2019 F. M. ElliM. A. MaffiniA. PirelliM. ArosioG. Mantovani + Article (author) -
Autosomal Dominant Pseudohypoparathyroidism type Ib : a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR 2014 F.M. ElliE. PeverelliA. SpadaG. Mantovani + Article (author) -
Classification of pseudohypoparathyroidism and differential diagnosis 2015 G. MantovaniF.M. Elli Book Part (author) -
Clinical utility gene card for: pseudohypoparathyroidism 2013 G. MantovaniF. Elli + Article (author) -
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement 2018 Mantovani, GiovannaElli, Francesca M. + Article (author) -
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS : an EQA study 2015 G. MantovaniF.M. Elli + Article (author) -
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study (European Journal of Human Genetics (2015) 23 (560) DOI: 10.1038/ejhg.2014.127) 2015 Mantovani, GiovannaElli, Francesca M. + Article (author) -
FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic Transformation 2019 Ikehata, MasamiAlfieri, Carlo M.Barilani, MarioElli, Francesca M.Mantovani, GiovannaMessa, Piergiorgio + Article (author) -
Fibrocartilaginous mesenchymoma of bone: a single-institution experience with molecular investigations and a review of the literature 2017 Elli, Francesca MMantovani, Giovanna + Article (author) -
Filamin-A is essential for dopamine d2 receptor expression and signaling in tumorous lactotrophs 2012 E. PeverelliG. MantovaniF.M. ElliS. FerreroP. Beck-PeccozA. SpadaA.G. Lania + Article (author) -
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network 2016 G. MantovaniV. BoldrinF. Elli + Article (author) -
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism : Italian common healthcare pathways adoption. 2016 Mantovani GElli FM + Article (author) -
Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity 2018 Elli FMantovani G + Article (author) -
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects 2016 F. ElliG. Mantovani + Article (author) -
GNAS Epigenetic Defects and Pseudohypoparathyroidism : Time for a New Classification? 2012 G. MantovaniF.M. ElliA. Spada Article (author) -
Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B 2019 Elli, Francesca MartaMantovani, Giovanna + Article (author) -