Zentaro Kiuchi

A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3‐kb STX16 Deletion

H. Jüppner, A. Brickman, M. Reyes, 2021, JBMR plus.

Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion

H. Jüppner, M. Reyes, Zentaro Kiuchi, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Progression of PTH-resistance in autosomal dominant pseudohypoparathyroidism type Ib due to maternal STX16 deletions.

H. Jüppner, Anu Sharma, T. Declue, 2021, The Journal of clinical endocrinology and metabolism.

Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II

H. Jüppner, K. Yan, K. Nozu, 2023, JCEM Case Reports.