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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2020
Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio DistortionZentaro Kiuchi, Monica Reyes, Harald Jüppner
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 21, 2018
A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and MetatarsalsMonica Reyes, Bert Bravenboer, Harald Jüppner
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|December 21, 2019
Shortened Fingers and Toes: GNAS Abnormalities are Not the Only CauseMonica Reyes, Caroline Silve, Harald Jüppner
JCI Insight|January 30, 2024
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1BYorihiro Iwasaki, Monica Reyes, Harald Jüppner, et al.
Nature Communications|February 5, 2025
A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformationsYorihiro Iwasaki, Monica Reyes, Harald Jüppner, et al.
JBMR Plus|July 14, 2021
A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3-kbSTX16 DeletionZentaro Kiuchi, Monica Reyes, Arnold S Brickman, et al.
JCEM Case Reports|August 28, 2024
Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1BSabitha Sasidharan Pillai, Monica Reyes, Harald Jüppner, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 19, 2025
Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case ReportShilpa Sannapaneni, Sathya Krishnasamy, Monica Reyes, et al.
Bone|July 17, 2017
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/BMonica Reyes, Anara Karaca, Murat Bastepe, et al.
The Journal of Clinical Investigation|February 28, 2023
The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesisYorihiro Iwasaki, Cagri Aksu, Monica Reyes, et al.
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