Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus

Por Poradosu, Sabrina, Bravenboer, Bert, Takatani, Rieko, Jüppner, Harald
Publicado no BMJ Case Rep (2016)

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

Por Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
Publicado no J Bone Miner Res (2015)

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (spor...

Por Takatani, Rieko, Minagawa, Masanori, Molinaro, Angelo, Reyes, Monica, Kinoshita, Kaori, Takatani, Tomozumi, Kazukawa, Itsuro, Nagatsuma, Misako, Kashimada, Kenichi, Sato, Kenichi, Matsushita, Kazuyuki, Nomura, Fumio, Shimojo, Naoki, Jüppner, Harald
Publicado no Bone (2015)

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)()

Por Molinaro, Angelo, Tiosano, Dov, Takatani, Rieko, Chrysis, Dionisios, Russell, William, Koscielniak, Nikolas, Kottler, Marie-Laure, Agretti, Patrizia, De Marco, Giuseppina, Ahtiainen, Petteri, Christov, Marta, Mäkitie, Outi, Tonacchera, Massimo, Jüppner, Harald
Publicado no J Bone Miner Res (2015)

A large inversion involving GNAS exon A/B and all exons encoding Gsα is associated with autosomal dominant pseudohypoparathyroidism type Ib (PHP1B)

Por Grigelioniene, Giedre, Nevalainen, Pasi I., Reyes, Monica, Thiele, Susanne, Tafaj, Olta, Molinaro, Angelo, Takatani, Rieko, Ala-Houhala, Marja, Nilsson, Daniel, Eisfeldt, Jesper, Lindstrand, Anna, Kottler, Marie-Laure, Mäkitie, Outi, Jüppner, Harald
Publicado no J Bone Miner Res (2017)