Works by Thakker, Rajesh V.


Results: 128
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    Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.

    Published in:
    Journal of Bone & Mineral Research, 2024, v. 39, n. 9, p. 1315, doi. 10.1093/jbmr/zjae122
    By:
    • Zhou, Wei;
    • Ås, Joel;
    • Shore-Lorenti, Catherine;
    • Nguyen, Hanh H;
    • van de Laarschot, Denise M;
    • Sztal-Mazer, Shoshana;
    • Grill, Vivian;
    • Girgis, Christian M;
    • Stricker, Bruno H Ch;
    • van der Eerden, Bram C J;
    • Thakker, Rajesh V;
    • Appelman-Dijkstra, Natasha M;
    • Wadelius, Mia;
    • Clifton-Bligh, Roderick J;
    • Hallberg, Pär;
    • Verkerk, Annemieke J M H;
    • van Rooij, Jeroen G J;
    • Ebeling, Peter R;
    • Zillikens, M Carola
    Publication type:
    Article
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    GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

    Published in:
    Journal of Bone & Mineral Research, 2023, v. 38, n. 6, p. 907, doi. 10.1002/jbmr.4803
    By:
    • Howles, Sarah A.;
    • Gorvin, Caroline M.;
    • Cranston, Treena;
    • Rogers, Angela;
    • Gluck, Anna K.;
    • Boon, Hannah;
    • Gibson, Kate;
    • Rahman, Mushtaqur;
    • Root, Allen;
    • Nesbit, M. Andrew;
    • Hannan, Fadil M.;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Global Challenges and New Horizons.

    Published in:
    Journal of Bone & Mineral Research, 2023, v. 38, n. 1, p. 1, doi. 10.1002/jbmr.4749
    By:
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Hypoparathyroidism: Genetics and Diagnosis.

    Published in:
    Journal of Bone & Mineral Research, 2022, v. 37, n. 12, p. 2615, doi. 10.1002/jbmr.4667
    By:
    • Mannstadt, Michael;
    • Cianferotti, Luisella;
    • Gafni, Rachel I;
    • Giusti, Francesca;
    • Kemp, Elizabeth Helen;
    • Koch, Christian A;
    • Roszko, Kelly L;
    • Yao, Liam;
    • Guyatt, Gordon H;
    • Thakker, Rajesh V;
    • Xia, Weibo;
    • Brandi, Maria‐Luisa
    Publication type:
    Article
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    Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop.

    Published in:
    Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2293, doi. 10.1002/jbmr.4677
    By:
    • Bilezikian, John P.;
    • Khan, Aliya A.;
    • Silverberg, Shonni J.;
    • Fuleihan, Ghada El‐Hajj;
    • Marcocci, Claudio;
    • Minisola, Salvatore;
    • Perrier, Nancy;
    • Sitges‐Serra, Antonio;
    • Thakker, Rajesh V.;
    • Guyatt, Gordon;
    • Mannstadt, Michael;
    • Potts, John T.;
    • Clarke, Bart L.;
    • Brandi, Maria Luisa
    Publication type:
    Article
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    Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.

    Published in:
    Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2315, doi. 10.1002/jbmr.4665
    By:
    • Minisola, Salvatore;
    • Arnold, Andrew;
    • Belaya, Zhanna;
    • Brandi, Maria Luisa;
    • Clarke, Bart L.;
    • Hannan, Fadil M.;
    • Hofbauer, Lorenz C.;
    • Insogna, Karl L.;
    • Lacroix, André;
    • Liberman, Uri;
    • Palermo, Andrea;
    • Pepe, Jessica;
    • Rizzoli, René;
    • Wermers, Robert;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Association of prolactin receptor (PRLR) variants with prolactinomas.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396
    By:
    • Gorvin, Caroline M;
    • Newey, Paul J;
    • Rogers, Angela;
    • Stokes, Victoria;
    • Neville, Matt J;
    • Lines, Kate E;
    • Ntali, Georgia;
    • Lees, Peter;
    • Morrison, Patrick J;
    • Singhellakis, Panagiotis N;
    • Malandrinou, Fotini Ch;
    • Karavitaki, Niki;
    • Grossman, Ashley B;
    • Karpe, Fredrik;
    • Thakker, Rajesh V
    Publication type:
    Article
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    Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010
    By:
    • Gorvin, Caroline M.;
    • Metpally, Raghu;
    • Stokes, Victoria J.;
    • Hannan, Fadil M.;
    • Krishnamurthy, Sarath B.;
    • Overton, John D.;
    • Reid, Jeffrey G.;
    • Breitwieser, Gerda E.;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 549, doi. 10.1210/clinem/dgad494
    By:
    • Cuny, Thomas;
    • Romanet, Pauline;
    • Goldsworthy, Michelle;
    • Guérin, Carole;
    • Wilkin, Marie;
    • Roche, Philippe;
    • Sebag, Frédéric;
    • Summeren, Lynn E van;
    • Stevenson, Mark;
    • Howles, Sarah A;
    • Deharo, Jean-Claude;
    • Thakker, Rajesh V;
    • Taïeb, David
    Publication type:
    Article
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    Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.

    Published in:
    International Journal of Cancer, 2025, v. 156, n. 5, p. 980, doi. 10.1002/ijc.35264
    By:
    • English, Katherine A.;
    • Goldsworthy, Michelle;
    • Willis, Brittannie;
    • Kooblall, Kreepa G.;
    • Birla, Shweta;
    • Selberherr, Andreas;
    • Stevenson, Mark;
    • Shariq, Omair A.;
    • Oberg, Ann L.;
    • Wang, Tony;
    • Carmichael, James;
    • Mavrommatis, Konstantinos;
    • Escoubet, Laure;
    • Thakker, Rajesh V.;
    • Howles, Sarah A.;
    • Lines, Kate E.
    Publication type:
    Article
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    Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-13145-x
    By:
    • Howles, Sarah A.;
    • Wiberg, Akira;
    • Goldsworthy, Michelle;
    • Bayliss, Asha L.;
    • Gluck, Anna K.;
    • Ng, Michael;
    • Grout, Emily;
    • Tanikawa, Chizu;
    • Kamatani, Yoichiro;
    • Terao, Chikashi;
    • Takahashi, Atsushi;
    • Kubo, Michiaki;
    • Matsuda, Koichi;
    • Thakker, Rajesh V.;
    • Turney, Benjamin W.;
    • Furniss, Dominic
    Publication type:
    Article
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    Dent's disease.

    Published in:
    Nephrology Dialysis Transplantation, 2005, v. 20, n. 10, p. 2284, doi. 10.1093/ndt/gfh968
    By:
    • Guy H. Neild;
    • Rajesh V. Thakker;
    • Robert J. Unwin;
    • Oliver M. Wrong
    Publication type:
    Article
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    Guidelines for the management of thyroid cancer.

    Published in:
    Clinical Endocrinology, 2014, v. 81, p. 1, doi. 10.1111/cen.12515
    By:
    • Perros, Petros;
    • Boelaert, Kristien;
    • Colley, Steve;
    • Evans, Carol;
    • Evans, Rhordi M;
    • Gerrard BA, Georgina;
    • Gilbert, Jackie;
    • Harrison, Barney;
    • Johnson, Sarah J;
    • Giles, Thomas E;
    • Moss, Laura;
    • Lewington, Val;
    • Newbold, Kate;
    • Taylor, Judith;
    • Thakker, Rajesh V;
    • Watkinson, John;
    • Williams, Graham R.
    Publication type:
    Article
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    A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia F. M. Hannan et al. CaSR mutation in hyperparathyroidism

    Published in:
    Clinical Endocrinology, 2010, v. 73, n. 6, p. 715, doi. 10.1111/j.1365-2265.2010.03870.x
    By:
    • Hannan, Fadil M.;
    • Nesbit, M. A.;
    • Christie, Paul T.;
    • Lissens, Willy;
    • Van der Schueren, Bart;
    • Bex, Marie;
    • Bouillon, Roger;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Genetic approaches to metabolic bone diseases.

    Published in:
    British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1147, doi. 10.1111/bcp.13803
    By:
    • Hannan, Fadil M.;
    • Newey, Paul J.;
    • Whyte, Michael P.;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    Multiple Endocrine Neoplasia Type 1: Latest Insights.

    Published in:
    Endocrine Reviews, 2021, v. 42, n. 2, p. 133, doi. 10.1210/endrev/bnaa031
    By:
    • Brandi, Maria Luisa;
    • Agarwal, Sunita K;
    • Perrier, Nancy D;
    • Lines, Kate E;
    • Valk, Gerlof D;
    • Thakker, Rajesh V
    Publication type:
    Article
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    Genetics of Hypercalciuric Nephrolithiasis.

    Published in:
    Annals of the New York Academy of Sciences, 2007, v. 1116, p. 461, doi. 10.1196/annals.1402.030
    By:
    • STECHMAN, MICHAEL J.;
    • LOH, NELLIE Y.;
    • THAKKER, RAJESH V.
    Publication type:
    Article