Publications: PROF Rajesh Thakker

Drezner MK, Thakker RV ( 2026 ) . Journal of Bone and Mineral Research (JBMR) 40th anniversary celebration: the second decade (part 1) . Journal of Bone and Mineral Research vol. 41 , ( 2 ) 93 - 99 .

Thakker RV ( 2026 ) . Celebrating JBMR’s 40th anniversary . Journal of Bone and Mineral Research vol. 41 , ( 1 ) 1 - 2 .

Bilezikian JP, Civitelli R, Clemens TL, Compston J, Drezner MK, Ebeling PR, Eisman JA, Thakker RV ( 2026 ) . Journal of Bone and Mineral Research (JBMR) 40th anniversary celebration: the beginning and first decade . Journal of Bone and Mineral Research vol. 41 , ( 1 ) 7 - 14 .

Khan AA, Ali DS, Bilezikian JP, Björnsdottir S, Collins MT, Cusano NE, Ebeling PR, Fuleihan GEH et al. ( 2025 ) . Best practice recommendations for the diagnosis and management of hypoparathyroidism . Metabolism vol. 171 ,

Brandi ML, Pieterman CRC, English KA, Lines KE, Shariq OA, Marini F, Cuny T, Lewis MA et al. ( 2025 ) . Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice . The Lancet Diabetes & Endocrinology vol. 13 , ( 8 ) 699 - 721 .

English KA, Pieterman CRC, Marini F, Lines KE, Cuny T, Saulle R, Shariq OA, Mitrova Z et al. ( 2025 ) . Treatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis . The Lancet Diabetes & Endocrinology vol. 13 , ( 8 ) 685 - 698 .

Lovegrove CE, Goldsworthy M, Haley J, Smelser D, Gorvin C, Hannan FM, Mahajan A, Suri M et al. ( 2025 ) . Genetic variants predisposing to increased risk of kidney stone disease . Journal of Clinical Investigation vol. 135 , ( 15 )

Hannan FM, Kooblall KG, Stevenson M, Elajnaf T, Liu F, Lines KE, Meng X, Stewart M et al. ( 2025 ) . Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1) . Journal of Biological Chemistry vol. 301 , ( 4 )

Ear PH, Marinoni I, Dayton T, Guenter R, Quelle DE, Battistella A, Buishand FO, Chittaranjan S et al. ( 2024 ) . NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations . Endocrine Oncology vol. 4 , ( 1 )

English KA, Goldsworthy M, Willis B, Kooblall KG, Birla S, Selberherr A, Stevenson M, Shariq OA et al. ( 2024 ) . Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms . International Journal of Cancer vol. 156 , ( 5 ) 980 - 992 .

Zhou W, van de Laarschot DM, van Rooij JGJ, Koedam M, Nguyen HH, Uitterlinden AG, Ebeling PR, Thakker RV et al. ( 2024 ) . Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures . Journal of Bone and Mineral Research vol. 40 , ( 1 ) 69 - 78 .

Calder AD, Allgrove J, Höppner J, Cheung M, Alexander S, Garagnani L, Thakker R, Jüppner H et al. ( 2024 ) . Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis . Journal of Bone and Mineral Research vol. 39 , ( 11 ) 1596 - 1605 .

Zhou W, Ås J, Shore-Lorenti C, Nguyen HH, van de Laarschot DM, Sztal-Mazer S, Grill V, Girgis CM et al. ( 2024 ) . Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures . Journal of Bone and Mineral Research vol. 39 , ( 9 ) 1315 - 1326 .

Hannan FM, Leow MKS, Lee JKW, Kovats S, Elajnaf T, Kennedy SH, Thakker RV ( 2024 ) . Endocrine effects of heat exposure and relevance to climate change . Nature Reviews Endocrinology vol. 20 , ( 11 ) 673 - 684 .

Kooblall KG, Stevenson M, Heilig R, Stewart M, Wright B, Lockstone H, Buck D, Fischer R 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 . JBMR Plus vol. 8 , ( 7 )

Newey PJ, Thakker RV ( 2024 ) . Endocrine Neoplasia Syndromes . Williams Textbook of Endocrinology 15th Edition ,

English KA, Lines KE, Thakker RV ( 2023 ) . Genetics of hereditary forms of primary hyperparathyroidism . Hormones vol. 23 , ( 1 ) 3 - 14 .

Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A et al. ( 2023 ) . Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases . Genome Medicine vol. 15 , ( 1 )

Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F et al. ( 2023 ) . GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics . Journal of Investigative Dermatology vol. 144 , ( 4 ) 811 - 819.e4 .

Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S et al. ( 2023 ) . GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification . Journal of Investigative Dermatology vol. 144 , ( 4 ) 820 - 832.e9 .

Lovegrove CE, Bešević J, Wiberg A, Lacey B, Littlejohns TJ, Allen NE, Goldsworthy M, Kim J et al. ( 2023 ) . Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations . Journal of the American Society of Nephrology vol. 34 , ( 12 ) 1991 - 2011 .

Cuny T, Romanet P, Goldsworthy M, Guérin C, Wilkin M, Roche P, Sebag F, van Summeren LE et al. ( 2023 ) . Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1 . The Journal of Clinical Endocrinology & Metabolism vol. 109 , ( 2 ) 549 - 556 .

Kooblall KG, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, Butterfield N, Leng H et al. ( 2023 ) . A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall Smith Syndrome . JBMR Plus vol. 7 , ( 6 )

Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M et al. ( 2023 ) . GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia . Journal of Bone and Mineral Research vol. 38 , ( 6 ) 907 - 917 .

Wang P, Bowl MR, Bender S, Peng J, Farber L, Chen J, Ali A, Zhang Z et al. ( 2023 ) . Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice . Molecular and Cellular Biology vol. 28 , ( 9 ) 2930 - 2940 .

Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R ( 2023 ) . Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3 . The Journal of Pediatrics vol. 257 ,

Gorvin CM, Newey PJ, Thakker RV ( 2023 ) . Identification of prolactin receptor variants with diverse effects on receptor signalling . Journal of Molecular Endocrinology vol. 70 , ( 3 )

Thakker RV ( 2023 ) . The Parathyroid Glands, Hypercalcemia, and Hypocalcemia . Goldman Cecil Medicine 27th Edition Volume 1 2 , vol. 2 ,

Thakker RV ( 2022 ) . Global Challenges and New Horizons . Journal of Bone and Mineral Research vol. 38 , ( 1 ) 1 - 2 .

Minisola S, Fukumoto S, Xia W, Corsi A, Colangelo L, Scillitani A, Pepe J, Cipriani C et al. ( 2022 ) . Tumor-induced Osteomalacia: A Comprehensive Review . Endocrine Reviews vol. 44 , ( 2 ) 323 - 353 .

Collins MT, Marcucci G, Anders H-J, Beltrami G, Cauley JA, Ebeling PR, Kumar R, Linglart A et al. ( 2022 ) . Author Correction: Skeletal and extraskeletal disorders of biomineralization . Nature Reviews Endocrinology vol. 19 , ( 1 ) 62 - 62 .

Hannan FM, Elajnaf T, Vandenberg LN, Kennedy SH, Thakker RV ( 2022 ) . Hormonal regulation of mammary gland development and lactation . Nature Reviews Endocrinology vol. 19 , ( 1 ) 46 - 61 .

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges‐Serra A et al. ( 2022 ) . Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop . Journal of Bone and Mineral Research vol. 37 , ( 11 ) 2293 - 2314 .

Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L et al. ( 2022 ) . Hypoparathyroidism: Genetics and Diagnosis . Journal of Bone and Mineral Research vol. 37 , ( 12 ) 2615 - 2629 .

Kooblall KG, Stokes VJ, Shariq OA, English KA, Stevenson M, Broxholme J, Wright B, Lockstone HE et al. ( 2022 ) . miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2 . Endocrine Related Cancer vol. 29 , ( 10 ) 557 - 568 .

Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL et al. ( 2022 ) . Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism . Journal of Bone and Mineral Research vol. 37 , ( 11 ) 2315 - 2329 .

Zhou W, Nguyen HH, van de Laarschot DM, Howe TS, Koh JSB, Milat F, van Rooij JGJ, Verlouw JAM et al. ( 2022 ) . Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures . JBMR Plus vol. 6 , ( 8 )

Howles SA, Wiberg A, Goldsworthy M, Bayliss AL, Gluck AK, Ng M, Grout E, Tanikawa C et al. ( 2022 ) . Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease . Nature Communications vol. 13 , ( 1 )

Cranston T, Boon H, Olesen MK, Ryan FJ, Shears D, London R, Rostom H, Elajnaf T et al. ( 2022 ) . Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism . European Journal of Endocrinology vol. 187 , ( 1 ) 111 - 122 .

Collins MT, Marcucci G, Anders H-J, Beltrami G, Cauley JA, Ebeling PR, Kumar R, Linglart A et al. ( 2022 ) . Skeletal and extraskeletal disorders of biomineralization . Nature Reviews Endocrinology vol. 18 , ( 8 ) 473 - 489 .

Stevenson M, Pagnamenta AT, Mack HG, Savige J, Giacopuzzi E, Lines KE, Taylor JC, Thakker RV ( 2022 ) . The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing . Journal of the Endocrine Society vol. 6 , ( 7 )

Shariq OA, Lines KE, English KA, Jafar-Mohammadi B, Prentice P, Casey R, Challis BG, Selberherr A et al. ( 2022 ) . Corrigendum to ‘Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes’ [Surgery 171 (2021) 77–87] . Surgery vol. 171 , ( 6 ) 1708 - 1711 .

Elston MS, Elajnaf T, Hannan FM, Thakker RV ( 2022 ) . Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications . Journal of the Endocrine Society vol. 6 , ( 5 )

Newey PJ, Hannan FM, Wilson A, Thakker RV ( 2021 ) . Genetics of monogenic disorders of calcium and bone metabolism . Clinical Endocrinology vol. 97 , ( 4 ) 483 - 501 .

Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Endocrine Abstracts

Ariosa-Morejon Y, Santos A, Fischer R, Davis S, Charles P, Thakker R, Wann AK, Vincent TL ( 2021 ) . Age-dependent changes in protein incorporation into collagen-rich tissues of mice by in vivo pulsed SILAC labelling . eLife vol. 10 ,

Lanzer P, Hannan FM, Lanzer JD, Janzen J, Raggi P, Furniss D, Schuchardt M, Thakker R et al. ( 2021 ) . Medial Arterial Calcification JACC State-of-the-Art Review . Journal of the American College of Cardiology vol. 78 , ( 11 ) 1145 - 1165 .

Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics vol. 53 , ( 9 ) 1360 - 1372 .

Lines KE, Gluck AK, Thongjuea S, Bountra C, Thakker RV, Gorvin CM ( 2021 ) . The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines . Journal of Molecular Endocrinology vol. 67 , ( 3 ) 83 - 94 .

Sastre A, Valentino K, Hannan FM, Lines KE, Gluck AK, Stevenson M, Ryalls M, Gorrigan RJ et al. ( 2021 ) . PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1 . The New England Journal of Medicine vol. 385 , ( 2 ) 189 - 191 .

Gao Y, Robertson MJ, Rahman SN, Seven AB, Zhang C, Meyerowitz JG, Panova O, Hannan FM et al. ( 2021 ) . Asymmetric activation of the calcium-sensing receptor homodimer . Nature vol. 595 , ( 7867 ) 455 - 459 .

Shariq OA, Lines KE, English KA, Jafar-Mohammadi B, Prentice P, Casey R, Challis BG, Selberherr A et al. ( 2022 ) . Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes . Surgery . vol. 171 , 77 - 87 .

Kovacs CS, Chaussain C, Osdoby P, Brandi ML, Clarke B, Thakker RV ( 2021 ) . The role of biomineralization in disorders of skeletal development and tooth formation . Nature Reviews Endocrinology vol. 17 , ( 6 ) 336 - 349 .

Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al. ( 2021 ) . CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a65 - a66 .

Azizan EAB, Zhou J, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a72 - a72 .

Mihai R, Thakker RV ( 2021 ) . MANAGEMENT OF ENDOCRINE DISEASE: Postsurgical hypoparathyroidism: current treatments and future prospects for parathyroid allotransplantation . European Journal of Endocrinology vol. 184 , ( 5 ) r165 - r175 .

Hannan FM, Stevenson M, Bayliss AL, Stokes VJ, Stewart M, Kooblall KG, Gorvin CM, Codner G et al. ( 2021 ) . Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2 . Human Molecular Genetics vol. 30 , ( 10 ) 880 - 892 .

Arnold A, Dennison E, Kovacs CS, Mannstadt M, Rizzoli R, Brandi ML, Clarke B, Thakker RV ( 2021 ) . Hormonal regulation of biomineralization . Nature Reviews Endocrinology vol. 17 , ( 5 ) 261 - 275 .

Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV ( 2020 ) . Multiple Endocrine Neoplasia Type 1: Latest Insights . Endocrine Reviews vol. 42 , ( 2 ) 133 - 170 .

Liu J, Sadeh TT, Lippiat JD, Thakker RV, Black GC, Manson F ( 2020 ) . Small molecules restore the function of mutant CLC5 associated with Dent disease . Journal of Cellular and Molecular Medicine vol. 25 , ( 2 ) 1319 - 1322 .

Karakose E, Wang H, Inabnet W, Thakker RV, Libutti S, Fernandez-Ranvier G, Suh H, Stevenson M et al. ( 2020 ) . Aberrant methylation underlies insulin gene expression in human insulinoma . Nature Communications vol. 11 , ( 1 )

Niederle B, Selberherr A, Bartsch DK, Brandi ML, Doherty GM, Falconi M, Goudet P, Halfdanarson TR et al. ( 2020 ) . Multiple Endocrine Neoplasia Type 1 and the Pancreas: Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome – An International Consensus Statement . Neuroendocrinology vol. 111 , ( 7 ) 609 - 630 .

Hannan FM, Gorvin CM, Babinsky VN, Olesen MK, Stewart M, Wells S, Cox RD, Nemeth EF et al. ( 2020 ) . Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model . JBMR Plus vol. 4 , ( 10 )

Kooblall KG, Boon H, Cranston T, Stevenson M, Pagnamenta AT, Rogers A, Grozinsky‐Glasberg S, Richardson T et al. ( 2020 ) . Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression . Journal of Bone and Mineral Research vol. 36 , ( 1 ) 100 - 109 .

Howles SA, Thakker RV ( 2020 ) . Genetics of kidney stone disease . Nature Reviews Urology vol. 17 , ( 7 ) 407 - 421 .

Onopiuk M, Eby B, Nesin V, Ngo P, Lerner M, Gorvin CM, Stokes VJ, Thakker RV et al. ( 2020 ) . Control of PTH secretion by the TRPC1 ion channel . JCI Insight vol. 5 , ( 8 )

Gorvin CM, Stokes VJ, Boon H, Cranston T, Glück AK, Bahl S, Homfray T, Aung T et al. ( 2019 ) . Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2 . The Journal of Clinical Endocrinology & Metabolism vol. 105 , ( 3 )

Howles SA, Wiberg A, Goldsworthy M, Bayliss AL, Gluck AK, Ng M, Grout E, Tanikawa C et al. ( 2019 ) . Genetic variants of calcium and vitamin D metabolism in kidney stone disease . Nature Communications vol. 10 , ( 1 )

Hannan FM, Newey PJ, Whyte MP, Thakker RV ( 2018 ) . Genetic approaches to metabolic bone diseases . British Journal of Clinical Pharmacology vol. 85 , ( 6 ) 1147 - 1160 .

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV ( 2018 ) . The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases . Nature Reviews Endocrinology vol. 15 , ( 1 ) 33 - 51 .

Gorvin CM, Babinsky VN, Malinauskas T, Nissen PH, Schou AJ, Hanyaloglu AC, Siebold C, Jones EY et al. ( 2018 ) . A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin–biased signaling . Science Signaling vol. 11 , ( 518 )

Hannan FM, Olesen MK, Thakker RV ( 2017 ) . Calcimimetic and calcilytic therapies for inherited disorders of the calcium‐sensing receptor signalling pathway . British Journal of Pharmacology vol. 175 , ( 21 ) 4083 - 4094 .

Gorvin CM, Rogers A, Stewart M, Paudyal A, Hough TA, Teboul L, Wells S, Brown SD et al. ( 2017 ) . N ethyl N nitrosourea–Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss of Function Mice . JBMR Plus vol. 1 , ( 1 ) 3 - 15 .

Piret SE, Olinger E, Reed AAC, Nesbit MA, Hough TA, Bentley L, Devuyst O, Cox RD et al. ( 2017 ) . A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress . Disease Models & Mechanisms vol. 10 , ( 6 ) 773 - 786 .

Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ et al. ( 2016 ) . Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations . The New England Journal of Medicine vol. 374 , ( 14 ) 1396 - 1398 .

Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J et al. ( 2016 ) . Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders* . Journal of Biological Chemistry vol. 291 , ( 20 ) 10876 - 10885 .

Walls GV, Stevenson M, Soukup BS, Lines KE, Grossman AB, Schmid HA, Thakker RV ( 2016 ) . Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1–Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progression . Endocrinology vol. 157 , ( 5 ) 1789 - 1798 .

Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP et al. ( 2016 ) . Epidemiology and Diagnosis of Hypoparathyroidism . The Journal of Clinical Endocrinology & Metabolism vol. 101 , ( 6 ) 2284 - 2299 .

Brandi ML, Bilezikian JP, Shoback D, Bouillon R, Clarke BL, Thakker RV, Khan AA, Potts JT ( 2016 ) . Management of Hypoparathyroidism: Summary Statement and Guidelines . The Journal of Clinical Endocrinology & Metabolism vol. 101 , ( 6 ) 2273 - 2283 .

Shoback DM, Bilezikian JP, Costa AG, Dempster D, Dralle H, Khan AA, Peacock M, Raffaelli M et al. ( 2016 ) . Presentation of Hypoparathyroidism: Etiologies and Clinical Features . The Journal of Clinical Endocrinology & Metabolism vol. 101 , ( 6 ) 2300 - 2312 .

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B et al. ( 2016 ) . Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) . Journal of Bone and Mineral Research vol. 31 , ( 6 ) 1207 - 1214 .

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV ( 2016 ) . A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) . Journal of Bone and Mineral Research vol. 31 , ( 6 ) 1200 - 1206 .

Karunaratne A, Xi L, Bentley L, Sykes D, Boyde A, Esapa CT, Terrill NJ, Brown SDM et al. ( 2015 ) . Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis . Bone vol. 84 , 15 - 24 .

Lemos MC, Christie PT, Rodrigues D, Thakker RV ( 2015 ) . Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene . Clinical Endocrinology vol. 84 , ( 3 ) 463 - 465 .

Fetahu IS, Tennakoon S, Lines KE, Gröschel C, Aggarwal A, Mesteri I, Baumgartner-Parzer S, Mader RM et al. ( 2015 ) . miR‐135b‐ and miR‐146b‐dependent silencing of calcium‐sensing receptor expression in colorectal tumors . International Journal of Cancer vol. 138 , ( 1 ) 137 - 145 .

Lines KE, Stevenson M, Thakker RV ( 2015 ) . Animal models of pituitary neoplasia . Molecular and Cellular Endocrinology vol. 421 , 68 - 81 .

Yates CJ, Newey PJ, Thakker RV ( 2015 ) . Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1 . The Lancet Diabetes & Endocrinology vol. 3 , ( 11 ) 895 - 905 .

Hannan FM, Walls GV, Babinsky VN, Nesbit MA, Kallay E, Hough TA, Fraser WD, Cox RD et al. ( 2015 ) . The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1) . Endocrinology vol. 156 , ( 9 ) 3114 - 3121 .

Thakker RV ( 2015 ) . The calcium-sensing receptor: And its involvement in parathyroid pathology . Annales d Endocrinologie vol. 76 , ( 2 ) 81 - 83 .

Esapa CT, Hannan FM, Babinsky VN, Potter P, Thomas GP, Croucher PI, Brown MA, Brown SDM et al. ( 2015 ) . N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models . PLOS ONE vol. 10 , ( 4 )

Babinsky VN, Hannan FM, Youhanna SC, Maréchal C, Jadoul M, Devuyst O, Thakker RV ( 2015 ) . Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients . PLOS ONE vol. 10 , ( 3 )

Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L et al. ( 2014 ) . Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort . The Journal of Clinical Endocrinology & Metabolism vol. 100 , ( 3 ) e531 - e541 .

Lemos MC, Thakker RV ( 2014 ) . GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders . Human Mutation vol. 36 , ( 1 ) 11 - 19 .

Zhang C, Mulpuri N, Hannan FM, Nesbit MA, Thakker RV, Hamelberg D, Brown EM, Yang JJ ( 2014 ) . Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations . PLOS ONE vol. 9 , ( 11 )

Yu W, McPherson JR, Stevenson M, van Eijk R, Heng HL, Newey P, Gan A, Ruano D et al. ( 2014 ) . Whole-Exome Sequencing Studies of Parathyroid Carcinomas Reveal Novel PRUNE2 Mutations, Distinctive Mutational Spectra Related to APOBEC-Catalyzed DNA Mutagenesis and Mutational Enrichment in Kinases Associated With Cell Migration and Invasion . The Journal of Clinical Endocrinology & Metabolism vol. 100 , ( 2 ) e360 - e364 .

Yates CJ, Lines KE, Thakker RV ( 2014 ) . Molecular genetic advances in pituitary tumor development . Expert Review of Endocrinology & Metabolism vol. 10 , ( 1 ) 35 - 53 .

Eastell R, Brandi ML, Costa AG, D'Amour P, Shoback DM, Thakker RV ( 2014 ) . Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop . The Journal of Clinical Endocrinology & Metabolism vol. 99 , ( 10 ) 3570 - 3579 .

Perros P, Boelaert K, Colley S, Evans C, Evans RM, BA GG, Gilbert J, Harrison B et al. ( 2014 ) . Guidelines for the management of thyroid cancer . Clinical Endocrinology vol. 81 , ( s1 ) 1 - 122 .

Korpi-Hyövälti E, Cranston T, Ryhänen E, Arola J, Aittomäki K, Sane T, Thakker RV, Schalin-Jäntti C ( 2014 ) . CDC73 Intragenic Deletion in Familial Primary Hyperparathyroidism Associated With Parathyroid Carcinoma . The Journal of Clinical Endocrinology & Metabolism vol. 99 , ( 9 ) 3044 - 3048 .

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS et al. ( 2014 ) . Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3) . The Journal of Clinical Endocrinology & Metabolism vol. 99 , ( 7 ) e1300 - e1305 .

Newey PJ, Gorvin CM, Thakker RV ( 2014 ) . Mutant Prolactin Receptor and Familial Hyperprolactinemia . The New England Journal of Medicine vol. 370 , ( 10 ) 976 - 978 .

Bentley L, Esapa CT, Nesbit MA, Head RA, Evans H, Lath D, Scudamore CL, Hough TA et al. ( 2013 ) . An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess . Endocrinology vol. 155 , ( 3 ) 908 - 922 .

Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA et al. ( 2013 ) . Mutant Prolactin Receptor and Familial Hyperprolactinemia . The New England Journal of Medicine vol. 369 , ( 21 ) 2012 - 2020 .

Thakker RV ( 2013 ) . Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) . Molecular and Cellular Endocrinology vol. 386 , ( 1-2 ) 2 - 15 .

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR et al. ( 2013 ) . Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia . The New England Journal of Medicine vol. 368 , ( 26 ) 2476 - 2486 .

Rogers A, Thakker RV ( 2013 ) . Clinically relevant genetic advances in endocrinology . Clinical Medicine vol. 13 , ( 3 ) 299 - 305 .

Moskowitz JL, Piret SE, Lhotta K, Kitzler TM, Tashman AP, Velez E, Thakker RV, Kotanko P ( 2013 ) . Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease . Clinical Journal of the American Society of Nephrology vol. 8 , ( 8 ) 1349 - 1357 .

Howles SA, Edwards MH, Cooper C, Thakker RV ( 2013 ) . Kidney Stones: A Fetal Origins Hypothesis . Journal of Bone and Mineral Research vol. 28 , ( 12 ) 2535 - 2539 .

Hannan FM, Thakker RV ( 2013 ) . Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism . Best Practice & Research Clinical Endocrinology & Metabolism vol. 27 , ( 3 ) 359 - 371 .

Hannan FM, Thakker RV ( 2013 ) . Investigating hypocalcaemia . The BMJ vol. 346 , ( may09 1 )

Gorvin CM, Wilmer MJ, Piret SE, Harding B, van den Heuvel LP, Wrong O, Jat PS, Lippiat JD et al. ( 2013 ) . Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients . Proceedings of the National Academy of Sciences of the United States of America vol. 110 , ( 17 ) 7014 - 7019 .

Naziat A, Karavitaki N, Thakker R, Ansorge O, Sadler G, Gleeson F, Cranston T, McCormack A et al. ( 2013 ) . Confusing genes: a patient with MEN2A and Cushing's disease . Clinical Endocrinology vol. 78 , ( 6 ) 966 - 968 .

Newey PJ, Nesbit MA, Rimmer AJ, Head RA, Gorvin CM, Attar M, Gregory L, Wass JAH et al. ( 2013 ) . Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas . The Journal of Clinical Endocrinology & Metabolism vol. 98 , ( 4 ) e796 - e800 .

Gaynor KU, Grigorieva IV, Allen MD, Esapa CT, Head RA, Gopinath P, Christie PT, Nesbit MA et al. ( 2013 ) . GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness . Discover Oncology vol. 4 , ( 3 ) 123 - 139 .

Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, Stechman MJ, Ahmad BN et al. ( 2013 ) . Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5 . PLOS ONE vol. 8 , ( 1 )

Gomes T, Gortner L, Dockter G, Leitner D, Thakker R, Rohrer T ( 2012 ) . HDR Syndrome – A Follow-up Genotype-Phenotype Analysis of a de novo Missense Thr272Ile Mutation in Exon 4 of GATA3 . Klinische Pädiatrie vol. 224 , ( 07 ) 452 - 454 .

Karunaratne A, Boyde A, Esapa CT, Hiller J, Brown SDM, Cox RD ( 2012 ) . Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone . Bone vol. 52 , ( 2 ) 689 - 698 .

Walls GV, Lemos MC, Javid M, Bazan-Peregrino M, Jeyabalan J, Reed AAC, Harding B, Tyler DJ et al. ( 2012 ) . MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas . Cancer Research vol. 72 , ( 19 ) 5060 - 5068 .

Walls GV, Reed AAC, Jeyabalan J, Javid M, Hill NR, Harding B, Thakker RV ( 2012 ) . Proliferation Rates of Multiple Endocrine Neoplasia Type 1 (MEN1)-Associated Tumors . Endocrinology vol. 153 , ( 11 ) 5167 - 5179 .

Piret SE, Esapa CT, Gorvin CM, Head R, Loh NY, Devuyst O, Thomas G, Brown SDM et al. ( 2012 ) . A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation . PLOS ONE vol. 7 , ( 9 )

Esapa CT, Head RA, Jeyabalan J, Evans H, Hough TA, Cheeseman MT, McNally EG, Carr AJ et al. ( 2012 ) . A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis . PLOS ONE vol. 7 , ( 8 )

Newey PJ, Nesbit MA, Rimmer AJ, Attar M, Head RT, Christie PT, Gorvin CM, Stechman M et al. ( 2012 ) . Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas . The Journal of Clinical Endocrinology & Metabolism vol. 97 , ( 10 ) e1995 - e2005 .

Scheinman SJ, Feehally J, Feest TG, Norden AGW, Thakker RV, Unwin RJ ( 2012 ) . In memoriam: Oliver M. Wrong . Kidney International vol. 82 , ( 2 ) 121 - 122 .

Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A et al. ( 2012 ) . Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1) . The Journal of Clinical Endocrinology & Metabolism vol. 97 , ( 9 ) 2990 - 3011 .

Karunaratne A, Davis GR, Hiller J, Esapa CT, Terrill NJ, Brown SDM, Cox RD, Thakker RV et al. ( 2012 ) . Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development . Bone vol. 51 , ( 3 ) 553 - 562 .

Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N et al. ( 2012 ) . Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites . Human Molecular Genetics vol. 21 , ( 12 ) 2768 - 2778 .

Karunaratne A, Esapa CR, Hiller J, Boyde A, Head R, Bassett JD, Terrill NJ, Williams GR et al. ( 2011 ) . Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: Evidence from in‐situ synchrotron X‐ray scattering and backscattered electron imaging . Journal of Bone and Mineral Research vol. 27 , ( 4 ) 876 - 890 .

Grigorieva IV, Thakker RV ( 2011 ) . Transcription factors in parathyroid development: lessons from hypoparathyroid disorders . Annals of the New York Academy of Sciences vol. 1237 , ( 1 ) 24 - 38 .

Ramage JK, Ahmed A, Ardill J, Bax N, Breen DJ, Caplin ME, Corrie P, Davar J et al. ( 2011 ) . Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) . Gut vol. 61 , ( 1 )

Esapa CT, Hough TA, Testori S, Head RA, Crane EA, Chan CP, Evans H, Tylzanowski P et al. ( 2011 ) . A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation . Journal of Bone and Mineral Research vol. 27 , ( 2 ) 413 - 428 .

Piret SE, Thakker RV ( 2011 ) . Mouse models for inherited endocrine and metabolic disorders . Journal of Endocrinology vol. 211 , ( 3 ) 211 - 230 .

Newey PJ, Thakker RV ( 2011 ) . Role of Multiple Endocrine Neoplasia Type 1 Mutational Analysis in Clinical Practice . Endocrine Practice vol. 17 , 8 - 17 .

Duncan EL, Danoy P, Kemp JP, Leo PJ, McCloskey E, Nicholson GC, Eastell R, Prince RL et al. ( 2011 ) . Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk . PLOS Genetics vol. 7 , ( 4 )

Medley L, Morel AN, Farrugia D, Reed N, Hayward N, Davies JM, Kirichek O, Thakker RV et al. ( 2011 ) . Phase II study of single agent capecitabine in the treatment of metastatic non-pancreatic neuroendocrine tumours . British Journal of Cancer vol. 104 , ( 7 ) 1067 - 1070 .

Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV ( 2010 ) . A homozygous inactivating calcium‐sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia . Clinical Endocrinology vol. 73 , ( 6 ) 715 - 722 .

Piret SE, Danoy P, Dahan K, Reed AAC, Pryce K, Wong W, Torres RJ, Puig JG et al. ( 2010 ) . Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 . Human Genetics vol. 129 , ( 1 ) 51 - 58 .

Devuyst O, Thakker RV ( 2010 ) . Dent's disease . Orphanet Journal of Rare Diseases vol. 5 , ( 1 )

Stechman MJ, Ahmad BN, Loh NY, Reed AAC, Stewart M, Wells S, Hough T, Bentley L et al. ( 2010 ) . Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages . Laboratory Animals vol. 44 , ( 3 ) 218 - 225 .

Thakker RV ( 2010 ) . Multiple endocrine neoplasia type 1 (MEN1) . Best Practice & Research Clinical Endocrinology & Metabolism vol. 24 , ( 3 ) 355 - 370 .

Grigorieva IV, Mirczuk S, Gaynor KU, Nesbit MA, Grigorieva EF, Wei Q, Ali A, Fairclough RJ et al. ( 2010 ) . Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2 . Journal of Clinical Investigation vol. 120 , ( 6 ) 2144 - 2155 .

Jeyabalan J, Nesbit MA, Galvanovskis J, Callaghan R, Rorsman P, Thakker RV ( 2010 ) . SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1 . PLOS ONE vol. 5 , ( 5 )

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV ( 2010 ) . A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism . The Journal of Clinical Endocrinology & Metabolism vol. 95 , ( 7 ) 3512 - 3516 .

Nesbit MA, Hannan FM, Graham U, Whyte MP, Morrison PJ, Hunter SJ, Thakker RV ( 2010 ) . Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a <3.5 Megabase Pair Region on Chromosome 19q13.3 . The Journal of Clinical Endocrinology & Metabolism vol. 95 , ( 4 ) 1947 - 1954 .

Newey PJ, Bowl MR, Cranston T, Thakker RV ( 2010 ) . Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism‐jaw tumor syndrome (HPT‐JT) and parathyroid tumors . Human Mutation vol. 31 , ( 3 ) 295 - 307 .

Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SHS, Wooding C, Thakker RV ( 2009 ) . Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity . Journal of Bone and Mineral Research vol. 12 , ( 8 ) 1204 - 1209 .

Williamson C, Cavaco BM, Jauch A, Dixon PH, Forbes S, Harding B, Holtgreve‐Grez H, Schoell B et al. ( 2009 ) . Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22‐q31 . Journal of Bone and Mineral Research vol. 14 , ( 2 ) 230 - 239 .

Cox JPD, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E et al. ( 2009 ) . Renal Chloride Channel, CLCN5, Mutations in Dent's Disease . Journal of Bone and Mineral Research vol. 14 , ( 9 ) 1536 - 1542 .

Bassett JHD, Rashbass P, Harding B, Forbes SA, Pannett AAJ, Thakker RVP ( 2009 ) . Studies of the Murine Homolog of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene, men1 . Journal of Bone and Mineral Research vol. 14 , ( 1 ) 3 - 10 .

Turner JJO, Christie PT, Pearce SHS, Turnpenny PD, Thakker RV ( 2009 ) . Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1) . Human Mutation vol. 31 , ( 1 ) e1089 - e1101 .

Reed AAC, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F et al. ( 2009 ) . CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease . American Journal of Physiology. Renal physiology vol. 298 , ( 2 ) f365 - f380 .

Hannan FM, Nesbit MA, Turner JJO, Stacey JM, Cianferotti L, Christie PT, Conigrave AD, Whyte MP et al. ( 2009 ) . Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3 . European Journal of Human Genetics vol. 18 , ( 4 ) 442 - 447 .

Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV ( 2009 ) . A Missense GATA3 Mutation, Thr272Ile, Causes the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome . The Journal of Clinical Endocrinology & Metabolism vol. 94 , ( 10 ) 3897 - 3904 .

Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S, Johnson PRV, Phillips RR et al. ( 2009 ) . Asymptomatic Children with Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors . The Journal of Clinical Endocrinology & Metabolism vol. 94 , ( 10 ) 3640 - 3646 .

Harding B, Lemos MC, Reed AAC, Walls GV, Jeyabalan J, Bowl MR, Tateossian H, Sullivan N et al. ( 2009 ) . Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia . Endocrine Related Cancer vol. 16 , ( 4 ) 1313 - 1327 .

Lemos MC, Harding B, Reed AAC, Jeyabalan J, Walls GV, Bowl MR, Sharpe J, Wedden S et al. ( 2009 ) . Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers . Journal of Endocrinology vol. 203 , ( 1 ) 133 - 142 .

Wu F, Reed AAC, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A et al. ( 2009 ) . Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease . Nephron vol. 112 , ( 4 ) p53 - p62 .

Williams SE, Reed AAC, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K et al. ( 2009 ) . Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum . Human Molecular Genetics vol. 18 , ( 16 ) 2963 - 2974 .

Shrimpton AE, Hoopes RR, Knohl SJ, Hueber P, Reed AAC, Christie PT, Igarashi T, Lee P et al. ( 2009 ) . OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability . Nephron vol. 112 , ( 2 ) p27 - p36 .

Newey PJ, Bowl MR, Thakker RV ( 2009 ) . Parafibromin – functional insights . Journal of Internal Medicine vol. 266 , ( 1 ) 84 - 98 .

Smith AJ, Reed AAC, Loh NY, Thakker RV, Lippiat JD ( 2008 ) . Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure . American Journal of Physiology. Renal physiology vol. 296 , ( 2 ) f390 - f397 .

Stechman MJ, Loh NY, Thakker RV ( 2008 ) . Genetic causes of hypercalciuric nephrolithiasis . Pediatric Nephrology vol. 24 , ( 12 )

Hannan FM, Athanasou NA, Teh J, Gibbons CLMH, Shine B, Thakker RV ( 2008 ) . Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1 . European Journal of Endocrinology vol. 158 , ( 2 ) 265 - 271 .

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV ( 2008 ) . Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene . Nature Reviews Endocrinology vol. 4 , ( 1 ) 53 - 58 .

Modlin IM, Oberg K, Chung DC, Jensen RT, de Herder WW, Thakker RV, Caplin M, Delle Fave G et al. ( 2008 ) . Gastroenteropancreatic neuroendocrine tumours . The Lancet Oncology vol. 9 , ( 1 ) 61 - 72 .

STECHMAN MJ, LOH NY, THAKKER RV ( 2007 ) . Genetics of Hypercalciuric Nephrolithiasis . Annals of the New York Academy of Sciences vol. 1116 , ( 1 ) 461 - 484 .

Lemos MC, Thakker RV ( 2007 ) . Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene . Human Mutation vol. 29 , ( 1 ) 22 - 32 .

Williams K, Flanagan A, Folpe A, Thakker R, Athanasou NA ( 2007 ) . Lymphatic vessels are present in phosphaturic mesenchymal tumours . Virchows Archiv vol. 451 , ( 5 ) 871 - 875 .

Connolly R, Gates D, Loh N, Baban D, Thakker R, Johnston B, McCance D, Ardill J et al. ( 2007 ) . Cox-2 Promotes Chromogranin A Expression and Bioactivity: Evidence for a Prostaglandin E2-Dependent Mechanism and the Involvement of a Proximal Cyclic Adenosine 5′-Monophosphate-Responsive Element . Endocrinology vol. 148 , ( 9 ) 4310 - 4317 .

Lemos MC, Harding B, Shalet SM, Thakker RV ( 2007 ) . A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1 . Clinical Endocrinology vol. 66 , ( 5 ) 709 - 713 .

Scarsbrook AF, Ganeshan A, Statham J, Thakker RV, Weaver A, Talbot D, Boardman P, Bradley KM et al. ( 2007 ) . Anatomic and Functional Imaging of Metastatic Carcinoid Tumors1 . RadioGraphics vol. 27 , ( 2 ) 455 - 477 .

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E et al. ( 2006 ) . Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor . Human Molecular Genetics vol. 16 , ( 3 ) 265 - 275 .

Jennings P, Aydin S, Kotanko P, Lechner J, Lhotta K, Williams S, Thakker RV, Pfaller W ( 2006 ) . Membrane Targeting and Secretion of Mutant Uromodulin in Familial Juvenile Hyperuricemic Nephropathy . Journal of the American Society of Nephrology vol. 18 , ( 1 ) 264 - 273 .

van Looij MAJ, Meijers-Heijboer H, Beetz R, Thakker RV, Christie PT, Feenstra LW, van Zanten BGA ( 2006 ) . Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome . Audiology and Neurotology vol. 11 , ( 6 ) 373 - 379 .

Flanagan DEH, Armitage M, Clein GP, Thakker RV ( 2006 ) . Prolactinoma presenting in identical twins with multiple endocrine neoplasia type 1 . Clinical Endocrinology vol. 45 , ( 1 ) 117 - 120 .

Bradley KJ, Bowl MR, Williams SE, Ahmad BN, Partridge CJ, Patmanidi AL, Kennedy AM, Loh NY et al. ( 2006 ) . Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal . Oncogene vol. 26 , ( 8 ) 1213 - 1221 .

Harding B, Curley AJ, Hannan FM, Christie PT, Bowl MR, Turner JJO, Barber M, Gillham‐Nasenya I et al. ( 2006 ) . Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density . Clinical Endocrinology vol. 65 , ( 5 ) 598 - 605 .

Scarsbrook AF, Thakker RV, Wass JAH, Gleeson FV, Phillips RR ( 2006 ) . Multiple Endocrine Neoplasia: Spectrum of Radiologic Appearances and Discussion of a Multitechnique Imaging Approach1 . RadioGraphics vol. 26 , ( 2 ) 433 - 451 .

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, da Conceição Pereira M et al. ( 2006 ) . Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours . Clinical Endocrinology vol. 64 , ( 3 ) 299 - 306 .

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AAJ et al. ( 2005 ) . MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO) . Journal of Clinical Investigation vol. 115 , ( 10 ) 2832 - 2842 .

Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R et al. ( 2005 ) . An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism . Journal of Clinical Investigation vol. 115 , ( 10 ) 2822 - 2831 .

Neild GH, Thakker RV, Unwin RJ, Wrong OM ( 2005 ) . Dent's disease . Nephrology Dialysis Transplantation vol. 20 , ( 10 ) 2284 - 2285 .

Lemos MC, Kotanko P, Christie PT, Harding B, Javor T, Smith C, Eastell R, Thakker RV ( 2005 ) . A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis . The Journal of Clinical Endocrinology & Metabolism vol. 90 , ( 9 ) 5386 - 5392 .

Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM et al. ( 2005 ) . Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22 . American Journal of Medical Genetics vol. 47 , ( 6 ) 925 - 930 .

Ramage JK, Davies AHG, Ardill J, Bax N, Caplin M, Grossman A, Hawkins R, McNicol AM et al. ( 2005 ) . Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours . Gut vol. 54 , ( suppl 4 )

Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K et al. ( 2005 ) . Functional Analysis of a Novel GATA3 Mutation in a Family with the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome . The Journal of Clinical Endocrinology & Metabolism vol. 90 , ( 4 ) 2445 - 2450 .

BRADLEY KJ, HOBBS MR, BULEY ID, CARPTEN JD, CAVACO BM, FARES JE, LAIDLER P, MANEK S et al. ( 2004 ) . Uterine tumours are a phenotypic manifestation of the hyperparathyroidism‐jaw tumour syndrome . Journal of Internal Medicine vol. 257 , ( 1 ) 18 - 26 .

Nesbit MA, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV ( 2004 ) . X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase . Genomics vol. 84 , ( 6 ) 1060 - 1070 .

Hough TA, Bogani D, Cheeseman MT, Favor J, Nesbit MA, Thakker RV, Lyon MF ( 2004 ) . Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification . Proceedings of the National Academy of Sciences of the United States of America vol. 101 , ( 37 ) 13566 - 13571 .

Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van’t Hoff WG ( 2004 ) . Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy . European Journal of Pediatrics vol. 163 , ( 10 ) 589 - 594 .

Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos M-A, Sobrinho LG et al. ( 2004 ) . Hyperparathyroidism-Jaw Tumor Syndrome in Roma Families from Portugal Is Due to a Founder Mutation of the HRPT2 Gene . The Journal of Clinical Endocrinology & Metabolism vol. 89 , ( 4 ) 1747 - 1752 .

Thakker RV ( 2004 ) . Diseases associated with the extracellular calcium-sensing receptor . Cell Calcium vol. 35 , ( 3 ) 275 - 282 .

Thakker RV ( 2004 ) . Genetics of Endocrine and Metabolic Disorders: Parathyroid . Reviews in Endocrine and Metabolic Disorders vol. 5 , ( 1 ) 37 - 51 .

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G et al. ( 2004 ) . Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome* . Journal of Biological Chemistry vol. 279 , ( 21 ) 22624 - 22634 .

Jouret F, Igarashi T, Gofflot F, Wilson PD, Karet FE, Thakker RV, Devuyst O ( 2004 ) . Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5 . Kidney International vol. 65 , ( 1 ) 198 - 208 .

Leotlela PD, Jauch A, Holtgreve-Grez H, Thakker RV ( 2003 ) . Genetics of neuroendocrine and carcinoid tumours . Endocrine Related Cancer vol. 10 , ( 4 ) 437 - 450 .

Hoopes RR, Reid R, Sen S, Szpirer C, Dixon P, Pannett AAJ, Thakker RV, Bushinsky DA et al. ( 2003 ) . Quantitative Trait Loci for Hypercalciuria in a Rat Model of Kidney Stone Disease . Journal of the American Society of Nephrology vol. 14 , ( 7 ) 1844 - 1850 .

Pannett AAJ, Kennedy AM, Turner JJO, Forbes SA, Cavaco BM, Bassett JHD, Cianferotti L, Harding B et al. ( 2003 ) . Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism . Clinical Endocrinology vol. 58 , ( 5 ) 639 - 646 .

Moulin P, Igarashi T, Van Der Smissen P, Cosyns J-P, Verroust P, Thakker RV, Scheinman SJ, Courtoy PJ et al. ( 2003 ) . Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients . Kidney International vol. 63 , ( 4 ) 1285 - 1295 .

Wu F, Roche P, Christie PT, Loh NY, Reed AAC, Esnouf RM, Thakker RV ( 2003 ) . Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship . Kidney International vol. 63 , ( 4 ) 1426 - 1432 .

Turner JJO, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ et al. ( 2003 ) . UROMODULIN Mutations Cause Familial Juvenile Hyperuricemic Nephropathy . The Journal of Clinical Endocrinology & Metabolism vol. 88 , ( 3 ) 1398 - 1401 .

Stacey JM, Turner JJO, Harding B, Nesbit MA, Kotanko P, Lhotta K, Puig JG, Torres RJ et al. ( 2003 ) . Genetic Mapping Studies of Familial Juvenile Hyperuricemic Nephropathy on Chromosome 16p11-p13 . The Journal of Clinical Endocrinology & Metabolism vol. 88 , ( 1 ) 464 - 470 .

Turner JJO, Wren AM, Jackson JE, Thakker RV, Meeran K ( 2002 ) . Localization of gastrinomas by selective intra‐arterial calcium injection . Clinical Endocrinology vol. 57 , ( 6 ) 821 - 825 .

Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM et al. ( 2002 ) . HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome . Nature Genetics vol. 32 , ( 4 ) 676 - 680 .

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L ( 2002 ) . Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy . American Journal of Medical Genetics vol. 113 , ( 2 ) 167 - 172 .

Norden AGW, Lapsley M, Lee PJ, Pusey CD, Scheinman SJ, Tam FWK, Thakker RV, Unwin RJ et al. ( 2002 ) . Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome . Kidney International vol. 62 , ( 1 )

Turner JJO, Leotlela PD, Pannett AAJ, Forbes SA, Bassett JHD, Harding B, Christie PT, Bowen-Jones D et al. ( 2002 ) . Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1 . The Journal of Clinical Endocrinology & Metabolism vol. 87 , ( 6 ) 2688 - 2693 .

Cavaco BM, Domingues R, Bacelar MC, Cardoso H, Barros L, Gomes L, Ruas MMA, Agapito A et al. ( 2002 ) . Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions . Clinical Endocrinology vol. 56 , ( 4 ) 465 - 473 .

Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DGD, Kelnar CJH, Thakker RV ( 2002 ) . GNAS1 mutational analysis in pseudohypoparathyroidism . Clinical Endocrinology vol. 49 , ( 4 ) 525 - 531 .

Bassett JHD, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV ( 2001 ) . Novel DAX1 mutations in X‐linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism . Clinical Endocrinology vol. 50 , ( 1 ) 69 - 75 .

Salvatori R, Thakker RV, Lopes MB, Fan X, Eswara JR, Ellison D, Lees P, Harding B et al. ( 2001 ) . Absence of mutations in the growth hormone (GH)‐releasing hormone receptor gene in GH‐secreting pituitary adenomas . Clinical Endocrinology vol. 54 , ( 3 ) 301 - 307 .

Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A et al. ( 2001 ) . CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2 . The Journal of Clinical Endocrinology & Metabolism vol. 86 , ( 12 ) 5658 - 5671 .

Norden AGW, Lapsley M, Lee PJ, Pusey CD, Scheinman SJ, Tam FWK, Thakker RV, Unwin RJ et al. ( 2001 ) . Glomerular protein sieving and implications for renal failure in Fanconi syndrome . Kidney International vol. 60 , ( 5 ) 1885 - 1892 .

Pannett AAJ ( 2001 ) . Somatic Mutations in MEN Type 1 Tumors, Consistent with the Knudson "Two-Hit" Hypothesis . The Journal of Clinical Endocrinology & Metabolism vol. 86 , ( 9 ) 4371 - 4374 .

Lemmens IH, Forsberg L, Pannett AAJ, Meyen E, Piehl F, Turner JJO, Van de Ven WJM, Thakker RV et al. ( 2001 ) . Menin Interacts Directly with the Homeobox-Containing Protein Pem . Biochemical and Biophysical Research Communications vol. 286 , ( 2 ) 426 - 431 .

Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV ( 2001 ) . X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene . The Journal of Clinical Endocrinology & Metabolism vol. 86 , ( 8 ) 3840 - 3844 .

Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AOM et al. ( 2001 ) . Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda1 . The Journal of Clinical Endocrinology & Metabolism vol. 86 , ( 7 ) 3233 - 3236 .

Sousa MM, Norden AGW, Jacobsen C, Willnow TE, Christensen EI, Thakker RV, Verroust PJ, Moestrup SK et al. ( 2000 ) . Evidence for the Role of Megalin in Renal Uptake of Transthyretin* . Journal of Biological Chemistry vol. 275 , ( 49 ) 38176 - 38181 .

Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV ( 2000 ) . Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease . Kidney International vol. 58 , ( 2 ) 520 - 527 .

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R et al. ( 2000 ) . GATA3 haplo-insufficiency causes human HDR syndrome . Nature vol. 406 , ( 6794 ) 419 - 422 .

Scheinman SJ, Cox JPD, Lloyd SE, Pearce SHS, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O et al. ( 2000 ) . Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria . Kidney International vol. 57 , ( 1 ) 232 - 239 .

Norden AGW, Scheinman SJ, Deschodt-Lanckman MM, Lapsley M, Nortier JL, Thakker RV, Unwin RJ, Wrong O ( 2000 ) . Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases . Kidney International vol. 57 , ( 1 ) 240 - 249 .

Bosio M, Bianchi ML, Lloyd SE, Thakker RV ( 1999 ) . A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene . Pediatric Nephrology vol. 13 , ( 4 ) 278 - 283 .

Epstein FH, Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG ( 1999 ) . Genetic Disorders of Renal Electrolyte Transport . The New England Journal of Medicine vol. 340 , ( 15 ) 1177 - 1187 .

Farrell WE, Simpson DJ, Bicknell J, Magnay JL, Kyrodimou E, Thakker RV, Clayton RN ( 1999 ) . Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours . British Journal of Cancer vol. 80 , ( 1-2 ) 44 - 50 .

Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV ( 1999 ) . Intra-Renal and Subcellular Distribution of the Human Chloride Channel, CLC-5, Reveals a Pathophysiological Basis for Dent's Disease . Human Molecular Genetics vol. 8 , ( 2 ) 247 - 257 .

Lloyd SE, Pannett AAJ, Dixon PH, Whyte MP, Thakker RV ( 1999 ) . Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13 . American Journal of Human Genetics vol. 64 , ( 1 ) 189 - 195 .

Thakker RV ( 1998 ) . Disorders of the calcium-sensing receptor . Biochimica et Biophysica Acta vol. 1448 , ( 2 ) 166 - 170 .

Langlois V, Bernard C, Scheinman SJ, Thakker RV, Cox JPD, Goodyer PR ( 1998 ) . Clinical features of X-linked nephrolithiasis in childhood . Pediatric Nephrology vol. 12 , ( 8 ) 625 - 629 .

Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J et al. ( 1998 ) . Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 . The Journal of Clinical Endocrinology & Metabolism vol. 83 , ( 10 ) 3615 - 3623 .

Gabig TG, Crean CD, Klenk A, Long H, Copeland NG, Gilbert DJ, Jenkins NA, Quincey D et al. ( 1998 ) . Expression and chromosomal localization of the Requiem gene . Mammalian Genome vol. 9 , ( 8 ) 660 - 665 .

Thakker RV ( 1998 ) . Multiple Endocrine Neoplasia--Syndromes of the Twentieth Century . The Journal of Clinical Endocrinology & Metabolism vol. 83 , ( 8 ) 2617 - 2620 .

Tahkker RV ( 1998 ) . The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis . Current Opinion in Nephrology & Hypertension vol. 7 , ( 4 ) 385 - 388 .

Höppener JWM, De Wit MJ, Simarro-Doorten AY, Roijers JFM, van Herrewaarden HMC, Lips CJM, Parente F, Quincey D et al. ( 1998 ) . A Putative Human Zinc-Finger Gene (ZFPL1) on 11q13, Highly Conserved in the Mouse and Expressed in Exocrine Pancreas The European Consortium on MEN 1 . Genomics vol. 50 , ( 2 ) 251 - 259 .

Bassett JHD, Forbes SA, Pannett AAJ, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM et al. ( 1998 ) . Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1 . American Journal of Human Genetics vol. 62 , ( 2 ) 232 - 244 .

Igarashi T, Günther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N et al. ( 1998 ) . Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent’sJapan disease . Kidney International vol. 54 , ( 6 ) 1850 - 1856 .

Grieff M, Whyte MP, Thakker RV, Mazzarella R ( 1997 ) . Sequence Analysis of 139 kb in Xp22.1 Containing Spermine Synthase and the 5′ Region of PEX . Genomics vol. 44 , ( 2 ) 227 - 231 .

Pearce SH, Thakker RV ( 1997 ) . The calcium-sensing receptor: insights into extracellular calcium homeostasis in health and disease . Journal of Endocrinology vol. 154 , ( 3 ) 371 - 378 .

Lloyd SE, Günther W, Pearce SHS, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE et al. ( 1997 ) . Characterisation of Renal Chloride Channel, CLCN5, Mutations in Hypercalciuric Nephrolithiasis (Kidney Stones) Disorders . Human Molecular Genetics vol. 6 , ( 8 ) 1233 - 1239 .

Lemmens I, Merregaert J, Van de Ven WJM, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N et al. ( 1997 ) . Construction of a 1.2-Mb Sequence-Ready Contig of Chromosome 11q13 Encompassing the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene . Genomics vol. 44 , ( 1 ) 94 - 100 .

The European Consortium on MEN1, Forbes SA, Pannett AAJ, Bassett JHD, Harding B, Wooding C, Thakker RV, Butler R et al. ( 1997 ) . Mapping of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) . Human Genetics vol. 100 , ( 3-4 ) 481 - 485 .

Lemmens I, Van de Ven WJM, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K et al. ( 1997 ) . Identification of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene . Human Molecular Genetics vol. 6 , ( 7 ) 1177 - 1183 .

Lloyd SE, Pang JT, Pearce SHS, Leigh SEA, Thakker RV ( 1997 ) . Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) . Human Genetics vol. 99 , ( 5 ) 585 - 589 .

Bates AS, Farrell WE, Bicknell EJ, McNicol AM, Talbot AJ, Broome JC, Perrett CW, Thakker RV et al. ( 1997 ) . Allelic Deletion in Pituitary Adenomas Reflects Aggressive Biological Activity and Has Potential Value as a Prognostic Marker1 . The Journal of Clinical Endocrinology & Metabolism vol. 82 , ( 3 ) 818 - 824 .

Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D ( 1997 ) . Expression and Cloning of the Human X-Linked Hypophosphatemia Gene cDNA . Biochemical and Biophysical Research Communications vol. 231 , ( 3 ) 635 - 639 .

Pearce SHS, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D et al. ( 1996 ) . A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor . The New England Journal of Medicine vol. 335 , ( 15 ) 1115 - 1122 .

Pook MA, Thakrar R, Pottinger B, Harding B, Porteous D, van Heningen V, Cowell J, Jones C et al. ( 1996 ) . EagI andNotI linking clones from human chromosomes 11 and Xp . Human Genetics vol. 97 , ( 6 ) 742 - 749 .

Pang JT, Lloyd SE, Wooding C, Farren B, Pottinger B, Harding B, Leigh SEA, Pook MA et al. ( 1996 ) . Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11g13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene . Human Genetics vol. 97 , ( 6 ) 732 - 741 .

Lloyd SE, Pearce SHS, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A et al. ( 1996 ) . A common molecular basis for three inherited kidney stone diseases . Nature vol. 379 , ( 6564 ) 445 - 449 .

FISHER SE, VANBAKEL I, LLOYD SE, PEARCE SHS, THAKKER RV, CRAIG IW ( 1995 ) . Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis) . Genomics vol. 29 , ( 3 ) 598 - 606 .

Trump D, Whyte MP, Wooding C, Pang JT, Pearce SHS, Kocher DB, Thakker RV ( 1995 ) . Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH . Human Genetics vol. 96 , ( 2 ) 183 - 187 .

Bassett JH, Thakker RV ( 1995 ) . Molecular genetics of disorders of calcium homeostasis . Best Practice & Research Clinical Endocrinology & Metabolism vol. 9 , ( 3 ) 581 - 608 .

Boggild MD, Jenkinson S, Pistorello M, Boscaro M, Scanarini M, McTernan P, Perrett CW, Thakker RV et al. ( 1994 ) . Molecular genetic studies of sporadic pituitary tumors . The Journal of Clinical Endocrinology & Metabolism vol. 78 , ( 2 ) 387 - 392 .

Pang JT, Thakker RV ( 1994 ) . Multiple endocrine neoplasia type 1 (MEN1) . European Journal of Cancer vol. 30 , ( 13 ) 1961 - 1968 .

Pook MA, Wrong O, Wooding C, Norden AGW, Feest TG, Thakker RV ( 1993 ) . Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22 . Human Molecular Genetics vol. 2 , ( 12 ) 2129 - 2134 .

Parkinson DB, Shaw NJ, Himsworth RL, Thakker RV ( 1993 ) . Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism . Human Genetics vol. 91 , ( 3 ) 281 - 284 .

Thakker RV ( 1992 ) . Molecular genetics of mineral metabolic disorders . Journal of Inherited Metabolic Disease vol. 15 , ( 4 ) 592 - 609 .

Parkinson DB, Thakker RV ( 1992 ) . A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism . Nature Genetics vol. 1 , ( 2 ) 149 - 152 .

Kay G, Thakker RV, Rastan S ( 1991 ) . Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization . Genomics vol. 11 , ( 3 ) 651 - 657 .

Thakker RV, Davies KE, Read AP, Tippett P, Wooding C, Flint T, Woob S, Kruse TA et al. ( 1990 ) . Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families . Genomics vol. 8 , ( 2 ) 189 - 193 .

Broad PM, Symes AJ, Thakker RV, Craig RK ( 1989 ) . Structure and methylation of the human calcitonin/α-CGRP gene . Nucleic Acids Research vol. 17 , ( 17 ) 6999 - 7011 .

Thakker RV, Davies KE, O'Riordan JLH ( 1989 ) . Gene mapping of mineral metabolic disorders . Journal of Inherited Metabolic Disease vol. 12 , ( S1 ) 231 - 246 .

Thakker RV, Ponder BAJ ( 1988 ) . 10 Multiple endocrine neoplasia . Best Practice & Research Clinical Endocrinology & Metabolism vol. 2 , ( 4 ) 1031 - 1067 .

Thakker RV, O'Riordan JLH ( 1988 ) . 7 Inherited forms of rickets and osteomalacia . Best Practice & Research Clinical Endocrinology & Metabolism vol. 2 , ( 1 ) 157 - 191 .

Hine AL, Heron CW, Thakker RV, Chapman M ( 1987 ) . The role of routine intravenous urography in patients with primary hyperparathyroidism . Clinical Radiology vol. 38 , ( 4 ) 411 - 413 .

Read AP, Thakker RV, Davies KE, Mountford RC, Brenton DP, Davies M, Glorieux F, Harris R et al. ( 1986 ) . Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis . Human Genetics vol. 73 , ( 3 ) 267 - 270 .

Cairns SR, Wolman R, Lewis JG, Thakker R ( 1985 ) . Persistent nephrogenic diabetes insipidus, hyperparathyroidism, and hypothyroidism after lithium treatment . The BMJ vol. 290 , ( 6467 )

Zachmann M, Fernandez F, Tassinari D, Thakker R, Prader A ( 1980 ) . Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone . European Journal of Pediatrics vol. 133 , ( 3 ) 277 - 282 .