Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)

Por Thakker, Rajesh V.
Publicado em 2014

Dent's disease

Por Devuyst, Olivier, Thakker, Rajesh V
Publicado em 2010

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

Por Lemos, Manuel C, Thakker, Rajesh V
Publicado no Hum Mutat (2015)

Genetic causes of hypercalciuric nephrolithiasis

Por Stechman, Michael J., Loh, Nellie Y., Thakker, Rajesh V.
Publicado em 2008

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis

Por Hannan, Fadil M, Babinsky, Valerie N, Thakker, Rajesh V
Publicado no J Mol Endocrinol (2016)

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

Por Lemos, Manuel C., Christie, Paul T., Rodrigues, Dírcea, Thakker, Rajesh V.
Publicado no Clin Endocrinol (Oxf) (2015)

Kidney Stones: A Fetal Origins Hypothesis

Por Howles, Sarah A., Edwards, Mark H., Cooper, Cyrus, Thakker, Rajesh V.
Publicado em 2013

SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1

Por Jeyabalan, Jeshmi, Nesbit, M. Andrew, Galvanovskis, Juris, Callaghan, Richard, Rorsman, Patrik, Thakker, Rajesh V.
Publicado em 2010

Epidemiology of Uromodulin-Associated Kidney Disease – Results from a Nation-Wide Survey

Por Lhotta, Karl, Piret, Sian E., Kramar, Reinhard, Thakker, Rajesh V., Sunder-Plassmann, Gere, Kotanko, Peter
Publicado em 2012

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

Por Smith, Andrew J., Reed, Anita A. C., Loh, Nellie Y., Thakker, Rajesh V., Lippiat, Jonathan D.
Publicado em 2009

Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification

Por Hough, Tertius A., Bogani, Debora, Cheeseman, Michael T., Favor, Jack, Nesbit, M. Andrew, Thakker, Rajesh V., Lyon, Mary F.
Publicado em 2004

Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients

Por Babinsky, Valerie N., Hannan, Fadil M., Youhanna, Sonia C., Maréchal, Céline, Jadoul, Michel, Devuyst, Olivier, Thakker, Rajesh V.
Publicado no PLoS One (2015)

A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

Por Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M Andrew, Thakker, Rajesh V
Publicado no J Bone Miner Res (2016)

CDC73 Intragenic Deletion in Familial Primary Hyperparathyroidism Associated With Parathyroid Carcinoma

Por Korpi-Hyövälti, Eeva, Cranston, Treena, Ryhänen, Eeva, Arola, Johanna, Aittomäki, Kristiina, Sane, Timo, Thakker, Rajesh V., Schalin-Jäntti, Camilla
Publicado em 2014

Proliferation Rates of Multiple Endocrine Neoplasia Type 1 (MEN1)-Associated Tumors

Por Walls, Gerard V., Reed, Anita A.C., Jeyabalan, Jeshmi, Javid, Mahsa, Hill, Nathan R., Harding, Brian, Thakker, Rajesh V.
Publicado no Endocrinology (2012)

Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1–Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progressio...

Por Walls, Gerard V., Stevenson, Mark, Soukup, Benjamin S., Lines, Kate E., Grossman, Ashley B., Schmid, Herbert A., Thakker, Rajesh V.
Publicado no Endocrinology (2016)

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

Por Moskowitz, Jonathan L., Piret, Sian E., Lhotta, Karl, Kitzler, Thomas M., Tashman, Adam P., Velez, Erin, Thakker, Rajesh V., Kotanko, Peter
Publicado em 2013

Role of Ca(2+) and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

Por Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M., Nesbit, M. Andrew, Thakker, Rajesh V., Hamelberg, Donald, Brown, Edward M., Yang, Jenny J.
Publicado no PLoS One (2014)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

Por Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Publicado no Am J Med Genet A (2016)

A legacy of tinnitus: multiple head and neck paragangliomas

Por Tan, Tricia M.M, Hatfield, Emma C.I, Thakker, Rajesh V, Maher, Eamonn R, Meeran, Karim, Martin, Niamh M, Turner, Jeremy J
Publicado em 2009