A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study

nork Molinaro, Angelo, Alessandrì, Maria Grazia, Putignano, Elena, Leuzzi, Vincenzo, Cioni, Giovanni, Baroncelli, Laura, Pizzorusso, Tommaso
Argitaratua izan da Sci Rep (2019)

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

nork Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
Argitaratua izan da J Bone Miner Res (2015)

Presence in the Pre-Surgical Fine-Needle Aspiration of Potential Thyroid Biomarkers Previously Identified in the Post-Surgical One

nork Ciregia, Federica, Giusti, Laura, Molinaro, Angelo, Niccolai, Filippo, Agretti, Patrizia, Rago, Teresa, Di Coscio, Giancarlo, Vitti, Paolo, Basolo, Fulvio, Iacconi, Pietro, Tonacchera, Massimo, Lucacchini, Antonio
Argitaratua 2013

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

nork 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
Argitaratua izan da Bone (2015)

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

nork 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
Argitaratua izan da 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)

nork 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
Argitaratua izan da J Bone Miner Res (2017)