Associated Papers
Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.
Höppner J et al.
Current Opinion in Nephrology and Hypertension, 2024
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism.
Viviani A et al.
Endocrine, 2023
Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.
Tan IL et al.
Cell Reports, 2023
37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding
The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Lee JH et al.
Vitamins and Hormones, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020
32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.
Lee JH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque L et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
PTH mutation with primary hyperparathyroidism and undetectable intact PTH.
Au AY et al.
The New England Journal of Medicine, 2008
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