Publications — Radcliffe Department of Medicine

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Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

Howles SA. et al, (2022), Nat Commun, 13

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

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

The COVID Stones Collaborative: How has the Management of Ureteric Stones Changed During and After the COVID-19 Pandemic? Rationale and Study Protocol.

Georgiades F. et al, (2020), Journal of Endoluminal Endourology, 3, e22 - e28

Genetics of kidney stone disease.

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

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

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

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

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

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

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

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE. et al, (2016), J Bone Miner Res, 31, 1207 - 1214

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN. et al, (2016), J Biol Chem, 291, 10876 - 10885

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

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

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan FM. et al, (2015), Hum Mol Genet, 24, 5079 - 5092

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A. et al, (2014), J Clin Endocrinol Metab, 99, E1300 - E1305

Kidney stones: a fetal origins hypothesis.

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

Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene

Graham UM. et al, (2013), IRISH JOURNAL OF MEDICAL SCIENCE, 182, S421 - S421

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

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

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

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Nesbit MA. et al, (2013), Nature Genetics, 45, 93 - 97

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Nesbit MA. et al, (2013), Nat Genet, 45, 93 - 97

Flexible cystoscopy findings in patients investigated for profound lower urinary tract symptoms, recurrent urinary tract infection, and pain.

Howles S. et al, (2012), J Endourol, 26, 1468 - 1472

The history of female urologists

Birnie AM. et al, (2012), BJU INTERNATIONAL, 109, 68 - 69

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