(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T.
J Endocr Soc. 2017 Nov 21;2(1):9-23. doi: 10.1210/js.2017-00293. eCollection 2018 Jan 1.
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
Kashani P, Roy M, Gillis L, Ajani O, Samaan MC.
Case Rep Med. 2016;2016:7645938. doi: 10.1155/2016/7645938. Epub 2016 Sep 14.
Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, alpha-Stimulating Gene.
Kotanidou EP, Tsinopoulou VR, Serbis A, Litou E, Galli-Tsinopoulou A.
J Bone Metab. 2021 Feb;28(1):85-89. doi: 10.11005/jbm.2021.28.1.85. Epub 2021 Feb 28.
[Pseudohypoparathyroidism].
Yamamoto M, Akatsu T.
Nihon Rinsho. 1995 Apr;53(4):991-7.
C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature.
Ferrari D, Pandozzi C, Filice A, Nardi C, Cozzolino A, Melcarne R, Giacomelli L, Biffoni M, Di Gioia C, Merenda E, Del Sindaco G, Pagnano A, Pofi R, Giannetta E.
J Clin Med. 2023 Dec 6;12(24):7525. doi: 10.3390/jcm12247525.
Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.
Itoh M, Okajima M, Kittaka Y, Yachie A, Wada T, Saikawa Y.
Bone Rep. 2022 Apr 14;16:101569. doi: 10.1016/j.bonr.2022.101569. eCollection 2022 Jun.
[Clinical study of pseudohypoparathyroidism Type I & Type II (author's transl)].
Yamada K, Tamura Y, Yamamoto M, Kumagai A.
Nihon Naibunpi Gakkai Zasshi. 1976 Oct 20;52(10):983-96. doi: 10.1507/endocrine1927.52.10_983.
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.
Lee YS, Kim HK, Kim HR, Lee JY, Choi JW, Bae EJ, Oh PS, Park WI, Ki CS, Lee HJ.
Korean J Pediatr. 2014 May;57(5):240-4. doi: 10.3345/kjp.2014.57.5.240. Epub 2014 May 31.
Clinical evaluation of the Elecsys beta-CrossLaps serum assay, a new assay for degradation products of type I collagen C-tlopeptides.
Okabe R, Nakatsuka K, Inaba M, Miki T, Naka H, Masaki H, Moriguchi A, Nishizawa Y.
Clin Chem. 2001 Aug;47(8):1410-4.
Human diseases caused by homozygous PTH1R mutations.
Portales-Castillo I, Höppner J, Jüppner H, Gardella TJ.
Front Endocrinol (Lausanne). 2025 Aug 19;16:1641292. doi: 10.3389/fendo.2025.1641292. eCollection 2025.
