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Publications

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

Zecchin D. et al, (2023), J Invest Dermatol

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Knöpfel N. et al, (2023), J Invest Dermatol

Central Adiposity Increases Risk of Kidney Stone Disease via Effects on Serum Calcium Concentrations

Lovegrove CE. et al, (2023), Journal of the American Society of Nephrology

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features ofMarshall‐SmithSyndrome

Kooblall KG. et al, (2023), JBMR Plus, 7

Hormonal regulation of mammary gland development and lactation

Hannan FM. et al, (2022), Nature Reviews Endocrinology

Protocol for an observational study investigating hormones triggering the onset of sustained lactation: the INSIGHT study.

Rostom H. et al, (2022), BMJ Open, 12

Epidemiology, pathophysiology and genetics of primary hyperparathyroidism

Minisola S. et al, (2022), Journal of Bone and Mineral Research

Associations of adiposity, kidney stone disease, and serum calcium concentrations; observational and genetic epidemiological studies

Lovegrove CE. et al, (2022)

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Cranston T. et al, (2022), Eur J Endocrinol, 187, 111 - 122

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications

Elston MS. et al, (2022), Journal of the Endocrine Society, 6

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Bollerslev J. et al, (2021), Eur J Endocrinol

Medial Arterial Calcification: JACC State-of-the-Art Review.

Lanzer P. et al, (2021), J Am Coll Cardiol, 78, 1145 - 1165

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Sastre A. et al, (2021), The New England journal of medicine, 385, 189 - 191

Asymmetric activation of the calcium-sensing receptor homodimer.

Gao Y. et al, (2021), Nature

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2

Hannan FM. et al, (2021), Human Molecular Genetics

Genetics of monogenic disorders of calcium and bone metabolism

Newey PJ. et al, (2021), Clinical Endocrinology

Reference interval for albumin-adjusted calcium based on a large UK population.

Schini M. et al, (2021), Clin Endocrinol (Oxf), 94, 34 - 39

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model

Hannan FM. et al, (2020), JBMR Plus, 4

Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.

Borysewicz-Sańczyk H. et al, (2020), J Pediatr Endocrinol Metab, 33, 1231 - 1235

Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3

Hannan FM. et al, (2020)

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