Clinical utility gene card for: Pseudohypoparathyroidism

Por Mantovani, Giovanna, Linglart, Agnes, Garin, Intza, Silve, Caroline, Elli, Francesca M, de Nanclares, Guiomar Perez
Publicado em 2013

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

Por Rochtus, Anne, Martin-Trujillo, Alejandro, Izzi, Benedetta, Elli, Francesca, Garin, Intza, Linglart, Agnes, Mantovani, Giovanna, Perez de Nanclares, Guiomar, Thiele, Suzanne, Decallonne, Brigitte, Van Geet, Chris, Monk, David, Freson, Kathleen
Publicado no Clin Epigenetics (2016)

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

Por Garin, Intza, Mantovani, Giovanna, Aguirre, Urko, Barlier, Anne, Brix, Bettina, Elli, Francesca M, Freson, Kathleen, Grybek, Virginie, Izzi, Benedetta, Linglart, Agnès, Perez de Nanclares, Guiomar, Silve, Caroline, Thiele, Susanne, Werner, Ralf
Publicado no Eur J Hum Genet (2015)

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

Por Garin, Intza, Mantovani, Giovanna, Aguirre, Urko, Barlier, Anne, Brix, Bettina, Elli, Francesca M, Freson, Kathleen, Grybek, Virginie, Izzi, Benedetta, Linglart, Agne's, de Nanclares, Guiomar Perez, Silve, Caroline, Thiele, Susanne, Werner, Ralf
Publicado no Eur J Hum Genet (2015)