Endocrine effects of heat exposure and relevance to climate change.
Hannan FM. et al, (2024), Nat Rev Endocrinol, 20, 673 - 684
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Zhou W. et al, (2024), J Bone Miner Res
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
Calder AD. et al, (2024), J Bone Miner Res, 39, 1596 - 1605
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D. et al, (2024), J Invest Dermatol, 144, 811 - 819.e4
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N. et al, (2024), J Invest Dermatol, 144, 820 - 832.e9
Genetics of hereditary forms of primary hyperparathyroidism.
English KA. et al, (2024), Hormones (Athens), 23, 3 - 14
Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Cuny T. et al, (2024), J Clin Endocrinol Metab, 109, 549 - 556
Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.
Lovegrove CE. et al, (2023), J Am Soc Nephrol, 34, 1991 - 2011
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA. et al, (2023), J Bone Miner Res, 38, 907 - 917
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Chinoy A. et al, (2023), J Pediatr
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
Kooblall KG. et al, (2023), JBMR Plus
Global Challenges and New Horizons.
Thakker RV., (2022), Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Identification of prolactin receptor variants with diverse effects on receptor signalling.
Gorvin CM. et al, (2022), J Mol Endocrinol
Author Correction: Skeletal and extraskeletal disorders of biomineralization.
Collins MT. et al, (2022), Nat Rev Endocrinol
Hormonal regulation of mammary gland development and lactation.
Hannan FM. et al, (2022), Nat Rev Endocrinol
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.
Kooblall KG. et al, (2022), Endocr Relat Cancer, 29, 557 - 568
Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop
Bilezikian JP. et al, (2022), Journal of Bone and Mineral Research