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Search results (77)

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Mutational patterns in a large cohort of parathyroid carcinomas

STEVENSON M., (2026), Journal of Endocrinological Investigation

Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice.

Hannan FM. et al, (2026), J Clin Invest

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1).

Hannan FM. et al, (2025), J Biol Chem, 301

Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.

English KA. et al, (2025), Int J Cancer, 156, 980 - 992

daptor protein 2 sigma subunit ( AP2S1 ) variants associated with neurodevelopmental disorders

Stevenson M. et al, (2024)

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.

Kooblall KG. et al, (2024), JBMR Plus, 8

GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.

Zecchin D. et al, (2024), J Invest Dermatol, 144, 811 - 819.e4

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

Cuny T. et al, (2024), J Clin Endocrinol Metab, 109, 549 - 556

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

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, 7

Long-Acting PTH/PTHrP Hybrid Analogue Rectifies Hypocalcemia in a Mouse Model for Autosomal Dominant Hypocalcemia Type-1 (ADH1)

Hannan F. et al, (2023), JOURNAL OF BONE AND MINERAL RESEARCH, 38, 31 - 31

FR-PO293 Molecular Characterisation of Novel Klotho Variants Identified in Patients with Ca2+Disturbances

Grigore T. et al, (2023), JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 34, 485 - 485

Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism

Zecchin D. et al, (2023), JOURNAL OF INVESTIGATIVE DERMATOLOGY, 143, S139 - S139

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

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W. et al, (2022), JBMR Plus, 6

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