Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H.
J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060.
Pseudohypoparathyroidism type 1 B mimicking Fahr's disease in a 28-year-old female: A case report.
Acharya S, Yadav SK, Nepal G, Bhandari S, Lal Bhattarai S, Pathak S, Kandel B, Gautam J, Bhandari R.
Clin Case Rep. 2022 Feb 6;10(2):e05418. doi: 10.1002/ccr3.5418. eCollection 2022 Feb.
Pseudohypoparathyroidism Type 1b with Digital Clubbing.
Jinnouchi T, Yoshimoto M, Hayashi M.
Intern Med. 2025 Feb 1. doi: 10.2169/internalmedicine.4760-24. Online ahead of print.
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akutsu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M.
J Bone Miner Res. 2022 Oct;37(10):1850-1859. doi: 10.1002/jbmr.4652. Epub 2022 Aug 17.
SNAREs and developmental disorders.
Tang BL.
J Cell Physiol. 2021 Apr;236(4):2482-2504. doi: 10.1002/jcp.30067. Epub 2020 Sep 22.
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.
Guerreiro R, Brás J, Batista S, Pires P, Ribeiro MH, Almeida MR, Oliveira C, Hardy J, Santana I.
Genes Brain Behav. 2016 Sep;15(7):669-77. doi: 10.1111/gbb.12308. Epub 2016 Aug 24.
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).
Miller DE, Hanna P, Galey M, Reyes M, Linglart A, Eichler EE, Jüppner H.
J Bone Miner Res. 2022 Sep;37(9):1711-1719. doi: 10.1002/jbmr.4647. Epub 2022 Aug 3.
Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H.
J Mol Endocrinol. 2023 Dec 12;72(1):e230104. doi: 10.1530/JME-23-0104. Print 2024 Jan 1.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS.
N Engl J Med. 2021 Oct 21;385(17):1581-1592. doi: 10.1056/NEJMoa2103329. Epub 2021 Oct 6.
A Case of Sporadic Pseudohypoparathyroidism Type 1B Presented with Hypokalemia.
Yang WJ, Zhang Q, Jin P.
Horm Metab Res. 2022 Jan;54(1):50-51. doi: 10.1055/a-1528-7471. Epub 2021 Jul 29.
