P. Bordogna

发表

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

M. Segni, L. Mazzanti, G. Mantovani, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

J. Clarke, C. Kannengiesser, A. Linglart, 2015, The Journal of clinical endocrinology and metabolism.

Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

M. Arosio, M. Bergallo, I. Galliano, 2019, Front. Genet..

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

M. Arosio, A. Spada, F. Elli, 2018, Clinical Epigenetics.

Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.

P. Beck‐Peccoz, P. Ferrari, A. Spada, 2013, Bone.

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

A. Barlier, O. Hiort, K. Freson, 2016, European journal of endocrinology.

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

A. Linglart, G. Perez de Nanclares, V. Grybek, 2016, The Journal of clinical endocrinology and metabolism.

Pseudohypoparathyroidism Type Ia and Pseudo‐Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

P. Beck‐Peccoz, A. Spada, A. Barbieri, 2013, Human mutation.

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

P. Beck‐Peccoz, E. Peverelli, A. Spada, 2014, The Journal of clinical endocrinology and metabolism.

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

M. Arosio, A. Linglart, F. Elli, 2019, Clinical Epigenetics.

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

A. Barlier, O. Hiort, K. Freson, 2016 .

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance

M. Arosio, F. Elli, B. Madeo, 2019, Frontiers in Endocrinology.

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

M. Arosio, A. Linglart, F. Elli, 2019, Clinical Epigenetics.