Sfoglia per Autore
Analysis of genetic variants of phosphodiesterase 11A (PDE11A) in acromegalic patients
2009 E. Peverelli, F. Ermetici, M. Filopanti, F. Elli, C. Ronchi, G. Mantovani, S. Ferrero, S. Bosari, P. Beck-Peccoz, A. Lania, A. Spada
Pseudohypoparathyroidism and GNAS epigenetic defects : clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients
2010 G. Mantovani, L. de Sanctis, A.M. Barbieri, F.M. Elli, V. Bollati, V. Vaira, P. Labarile, S. Bondioni, E.M. Peverelli, A.G.A. Lania, P.L.M. Beck Peccoz, A. Spada
Filamin-A is essential for dopamine d2 receptor expression and signaling in tumorous lactotrophs
2012 E. Peverelli, G. Mantovani, E. Vitali, F.M. Elli, L. Olgiati, S. Ferrero, E.R. Laws, P. Della Mina, A. Villa, P. Beck-Peccoz, A. Spada, A.G. Lania
GNAS Epigenetic Defects and Pseudohypoparathyroidism : Time for a New Classification?
2012 G. Mantovani, F.M. Elli, A. Spada
The microRNA cluster C19MC is deregulated in parathyroid tumours
2012 V. Vaira, F.M. Elli, I. Forno, V. Guarnieri, C. Verdelli, S. Ferrero Bogetto, A. Scillitani, L. Vicentini, F. Cetani, G. Mantovani, A. Spada, S. Bosari, S.L. Corbetta
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype
2012 F.M. Elli, S. Ghirardello, C. Giavoli, S. Gangi, L. Dioni, M. Crippa, P. Finelli, S. Bergamaschi, F. Mosca, A. Spada, P. Beck Peccoz
Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism : The Growing Spectrum of GNAS Inactivating Mutations
2013 F.M. Elli, L. Desanctis, B. Ceoloni, A.M. Barbieri, P. Bordogna, P. Beck Peccoz, A. Spada, G. Mantovani
Clinical utility gene card for: pseudohypoparathyroidism
2013 G. Mantovani, A. Linglart, I. Garin, C. Silve, F. Elli, G. de Nanclares
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia : first Italian series
2013 F.M. Elli, A. Barbieri, P. Bordogna, P. Ferrari, R. Bufo, E. Ferrante, E. Giardino, P. Beck Peccoz, A. Spada, G. Mantovani
Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism Type
2014 G. Mantovani, F. Elli
Autosomal Dominant Pseudohypoparathyroidism type Ib : a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR
2014 F.M. Elli, L. de Sanctis, E. Peverelli, P. Bordogna, B. Pivetta, G. Miolo, P. Beck Peccoz, A. Spada, G. Mantovani
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations
2014 F.M. Elli, L. De Sanctis, V. Bollati, L. Tarantini, M. Filopanti, A.M. Barbieri, E. Peverelli, P. Beck-Peccoz, A. Spada, G. Mantovani
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS : an EQA study
2015 I. Garin, G. Mantovani, U. Aguirre, A. Barlier, B. Brix, F.M. Elli, K. Freson, V. Grybek, B. Izzi, A. Linglart, G. Perez de Nanclares, C. Silve, S. Thiele, R. Werner
Novel microdeletions affecting the gnas locus in pseudohypoparathyroidism: characterization of the underlying mechanisms
2015 I. Garin, F.M. Elli, A. Linglart, C. Silve, L. de Sanctis, P. Bordogna, A. Pereda, J.T. Clarke, C. Kannengiesser, R. Coutant, Y. Tenebaum Rakover, O. Admoni, G. Perez de Nanclares, G. Mantovani
Classification of pseudohypoparathyroidism and differential diagnosis
2015 G. Mantovani, F.M. Elli
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 I. Garin, G. Mantovani, U. Aguirre, A. Barlier, B. Brix, F.M. Elli, K. Freson, V. Grybek, B. Izzi, A. Linglart, G.P. De Nanclares, C. Silve, S. Thiele, R. Werner
Pseudohypoparathyroidism type Ib in 2015
2015 G. Mantovani, F.M. Elli
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism : Italian common healthcare pathways adoption.
2016 L. de Sanctis, F. Giachero, G. Mantovani, G. Weber, M. Salerno, G. Baroncelli, F. Elli, P. Matarazzo, M. Wasniewska, L. Mazzanti, G. Scirè, D. Tessaris
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network
2016 S. Thiele, G. Mantovani, A. Barlier, V. Boldrin, P. Bordogna, L. de Sanctis, F. Elli, K. Freson, I. Garin, V. Grybek, P. Hanna, B. Izzi, O. Hiort, B. Lecumberri, A. Pereda, V. Saraff, C. Silve, S. Turan, A. Usardi, R. Werner, G. Perez de Nanclares, A. Linglart
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
2016 A. Rochtus, A. Martin Trujillo, B. Izzi, F. Elli, I. Garin, A. Linglart, G. Mantovani, G. Perez de Nanclares, S. Thiele, B. Decallonne, C. Van Geet, D. Monk, K. Freson
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