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The Journal of Clinical Endocrinology and Metabolism|May 14, 2010
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidismSamantha M Mirczuk, Michael R Bowl, M Andrew Nesbit, et al.Hormones (Athens, Greece)|November 18, 2014
A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluationAli A Ghazi, Ali Mosaddegh Khah, Fereshteh Kamani, et al.Human Molecular Genetics|July 28, 2018
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling biasCaroline M Gorvin, Morten Frost, Tomas Malinauskas, et al.Journal of the Endocrine Society|November 5, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) VariantKate E Lines, Lisa B Nachtigall, Laura E Dichtel, et al.The Journal of Clinical Endocrinology and Metabolism|March 10, 2020
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)Poonam Dharmaraj, Caroline M Gorvin, Astha Soni, et al.European Journal of Endocrinology|May 6, 2022
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidismTreena Cranston, Hannah Boon, Mie K Olesen, et al.European Journal of Human Genetics : EJHG|August 20, 2025
EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumoursRichard Gallon, Liam McCormick, Angelica Saetta, et al.Journal of Molecular Medicine (Berlin, Germany)|January 4, 2006
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracingSteve E Humphries, Treena Cranston, Marcus Allen, et al.The New England Journal of Medicine|June 28, 2013
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaM Andrew Nesbit, Fadil M Hannan, Sarah A Howles, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 27, 2023
GNA11 Variants Identified in Patients with Hypercalcemia or HypocalcemiaSarah A Howles, Caroline M Gorvin, Treena Cranston, et al.Pageof 4