Publications et avancées | associationk20

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Consensus Résumé 2020: Consensus Statement Hormone Research Paediatrics

Recommendations for diagnosis and traitment of pseudohypoparathyroidism...

Dental and craniofacial features associated with GNAS loss of function mutations.
Elvire Le Norcy, Camille Reggio-Paquet, Marc de Kerdanet, Brigitte Mignot, Anya
Rothenbuhler, Catherine Chaussain, and Agnès Linglart. European Journal of Orthodontics,
2019, 1–9 doi:10.1093/ejo/cjz084.

Pediatric Endocrinology Reviews - February 2017

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

Dental and craniofacial features associated with GNAS Loss of Function mutations. Européan Jouranl of Orthodontics 2019.
Analyse des manifestations cranio-fasciales et dentaires...

The New England Journal of Medicine - January 2017

Paternally Inherited Inactivatinfg Mutations of the Gnas1 Gene in Progressive Osseous Heteroplasia

European Journal of Endocrinologie - 2016

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

www.eje-online.org

Pseudo-hypoparathyroïdie et ses variants - 2022

Un succès de la médecine translationnelle Pseudohypoparathyroidism and variants: A translational medicine success story

The Journal of Clinical Investigation - October 2003

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

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