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GNA11 variants identified in patients with hypercalcemia or hypocalcemia

Journal article

Howles S. et al, (2023), Journal of Bone and Mineral Research

Utility of Blood Tests in Screening for Metabolic Disorders in Kidney Stone Disease

Journal article

Howles S. et al, (2020), British Journal of Urology (BJU) International

Genetics of kidney stone disease.

Journal article

Howles SA. and Thakker RV., (2020), Nat Rev Urol, 17, 407 - 421

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

Journal article

HOWLES S. et al, (2019), Nature Communications

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Journal article

Howles SA. et al, (2017), JCI Insight, 2

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Journal article

Gorvin CM. et al, (2017), JCI Insight, 2

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

Journal article

Howles SA. et al, (2016), N Engl J Med, 374, 1396 - 1398

Kidney stones: a fetal origins hypothesis.

Journal article

Howles SA. et al, (2013), J Bone Miner Res, 28, 2535 - 2539

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Journal article

Nesbit MA. et al, (2013), N Engl J Med, 368, 2476 - 2486

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism

Journal article

Mannstadt M. et al, (2013), JOURNAL OF BONE AND MINERAL RESEARCH, 28

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