Molecular Definition of Pseudohypoparathyroidism Variants.
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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.
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Clin Case Rep. 2022 Feb 6;10(2):e05418. doi: 10.1002/ccr3.5418. eCollection 2022 Feb.
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 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.
SNAREs and developmental disorders.
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J Cell Physiol. 2021 Apr;236(4):2482-2504. doi: 10.1002/jcp.30067. Epub 2020 Sep 22.
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.
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.
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[Pseudohypoparathyroidism type I b and genomic imprinting].
Fukumoto S.
Clin Calcium. 2007 Aug;17(8):1222-7.
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.
Iwasaki Y, Reyes M, Ryabets-Lienhard A, Gales B, Linglart A, Miller DE, Salusky IB, Bastepe M, Jüppner H.
Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2423271122. doi: 10.1073/pnas.2423271122. Epub 2025 Apr 18.
