| 2022 |
Campbell D, Reyes M, Kaygusuz SB, Abali S, Guran T, Bereket A, Kagami M, Turan S, Jüppner H. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B. Bone. April 2022;157:116344. |
0 |
0 |
| 2001 |
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GCM, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard M-J, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. November 16, 2001;107(4):513-523. |
57 |
54 |
| 2020 |
Noda H, Guo J, Khatri A, Dean T, Reyes M, Armanini M, Brooks DJ, Martins JS, Schipani E, Bouxsein ML, Demay MB, Potts JT Jr, Jüppner H, Gardella TJ. An inverse agonist ligand of the PTH receptor partially rescues skeletal defects in a mouse model of Jansen's metaphyseal chondrodysplasia. J Bone Miner Res. March 2020;35(3):540-549. |
0 |
0 |
| 2021 |
Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H. A novel GNAS duplication associated with loss‐of‐methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B). J Bone Miner Res. March 2021;36(3):546-552. |
2 |
0 |
| 2021 |
Kiuchi Z, Reyes M, Jüppner H. Preferential maternal transmission of STX16‐GNAS mutations responsible for autosomal dominant pseudohypoparathyroidism type ib (PHP1B): another example of transmission ratio distortion. J Bone Miner Res. April 2021;36(4):696-703. |
0 |
0 |
| 2022 |
Miller DE, Hanna P, Galey M, Reyes M, Linglart A, Eichler EE, Jüppner H. Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B). J Bone Miner Res. September 2022;37(9):1711-1719. |
0 |
0 |