Publications by authors named "Rajesh V Thakker"

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Genetic variants predisposing to an increased risk of kidney stone disease.
Catherine E Lovegrove, Michelle Goldsworthy, Jeremy Haley, Diane Smelser, Caroline Gorvin, Rajesh V Thakker

J Clin Invest· August 2025

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Treatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis.
Katherine A English, Carolina R C Pieterman, Francesca Marini, Kate E Lines, Thomas Cuny, Rajesh V Thakker

Lancet Diabetes Endocrinol· August 2025

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Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice.
Maria Luisa Brandi, Carolina R C Pieterman, Katherine A English, Kate E Lines, Omair A Shariq, Rajesh V Thakker

Lancet Diabetes Endocrinol· August 2025

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Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1).
Fadil M Hannan, Kreepa G Kooblall, Mark Stevenson, Taha Elajnaf, Fangyu Liu, Rajesh V Thakker

J Biol Chem· April 2025

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Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.
Katherine A English, Michelle Goldsworthy, Brittannie Willis, Kreepa G Kooblall, Shweta Birla, Rajesh V Thakker

Int J Cancer· March 2025

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Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Wei Zhou, Denise M van de Laarschot, Jeroen G J van Rooij, Marijke Koedam, Hanh H Nguyen, Rajesh V Thakker

J Bone Miner Res· December 2024

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Endocrine effects of heat exposure and relevance to climate change.
Fadil M Hannan, Melvin K S Leow, Jason K W Lee, Sari Kovats, Taha Elajnaf, Rajesh V Thakker

Nat Rev Endocrinol· November 2024

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Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Wei Zhou, Joel Ås, Catherine Shore-Lorenti, Hanh H Nguyen, Denise M van de Laarschot, Rajesh V Thakker

J Bone Miner Res· September 2024

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Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
Kreepa G Kooblall, Mark Stevenson, Raphael Heilig, Michelle Stewart, Benjamin Wright, Rajesh V Thakker

JBMR Plus· July 2024

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GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Davide Zecchin, Nicole Knöpfel, Anna K Gluck, Mark Stevenson, Aimie Sauvadet, Rajesh V Thakker

J Invest Dermatol· April 2024

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GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Nicole Knöpfel, Davide Zecchin, Hanna Richardson, Satyamaanasa Polubothu, Sara Barberan-Martin, Rajesh V Thakker

J Invest Dermatol· April 2024

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Genetics of hereditary forms of primary hyperparathyroidism.
Katherine A English, Kate E Lines, Rajesh V Thakker

Hormones (Athens)· March 2024

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Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Thomas Cuny, Pauline Romanet, Michelle Goldsworthy, Carole Guérin, Marie Wilkin, Rajesh V Thakker

J Clin Endocrinol Metab· January 2024

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NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations.
Po Hien Ear, Ilaria Marinoni, Talya Dayton, Rachael Guenter, Dawn E Quelle, Rajesh V Thakker

Endocr Oncol· January 2024

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Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.
Catherine E Lovegrove, Jelena Bešević, Akira Wiberg, Ben Lacey, Thomas J Littlejohns, Rajesh V Thakker

J Am Soc Nephrol· December 2023

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Rajesh V Thakker

Genome Med· November 2023

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Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Amish Chinoy, Jacqueline Nicholson, Mars Skae, Fadil M Hannan, Rajesh V Thakker

J Pediatr· June 2023

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GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Sarah A Howles, Caroline M Gorvin, Treena Cranston, Angela Rogers, Anna K Gluck, Rajesh V Thakker

J Bone Miner Res· June 2023

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A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X () Gene Has Phenotypic Features of Marshall-Smith Syndrome.
Kreepa G Kooblall, Mark Stevenson, Michelle Stewart, Lachlan Harris, Oressia Zalucki, Rajesh V Thakker

JBMR Plus· June 2023

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Identification of prolactin receptor variants with diverse effects on receptor signalling.
Caroline M Gorvin, Paul J Newey, Rajesh V Thakker

J Mol Endocrinol· April 2023

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Tumor-induced Osteomalacia: A Comprehensive Review.
Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Rajesh V Thakker

Endocr Rev· March 2023

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Author Correction: Skeletal and extraskeletal disorders of biomineralization.
Michael T Collins, Gemma Marcucci, Hans-Joachim Anders, Giovanni Beltrami, Jane A Cauley, Rajesh V Thakker

Nat Rev Endocrinol· January 2023

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Global Challenges and New Horizons.
Rajesh V Thakker

J Bone Miner Res· January 2023

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The role of DNA methylation in human pancreatic neuroendocrine tumours.
Katherine A English, Rajesh V Thakker, Kate E Lines

Endocr Oncol· January 2023

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Hypoparathyroidism: Genetics and Diagnosis.
Michael Mannstadt, Luisella Cianferotti, Rachel I Gafni, Francesca Giusti, Elizabeth Helen Kemp, Rajesh V Thakker

J Bone Miner Res· December 2022

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