Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas
Newey, Paul J, Nesbit, M. Andrew, Rimmer, Andrew J, Attar, Moustafa, Head, Rosie T, Christie, Paul T, Gorvin, Caroline M, Stechman, Michael, Gregory, Lorna, Mihai, Radu, Sadler, Greg, McVean, Gil, Buck, David, Thakker, Rajesh V
Published in The journal of clinical endocrinology and metabolism (01.10.2012)
Published in The journal of clinical endocrinology and metabolism (01.10.2012)
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Journal Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
HANNAN, Fadil M, NESBIT, M. Andrew, LEMOS, Manuel C, BOWL, Michael R, BOUILLON, Roger, BRAIN, Caroline, BRIDGES, Nicola, BURREN, Christine, CONNELL, John M, HEIKE JUNG, MARKS, Eileen, MCCREDIE, David, CHEN ZHANG, MUGHAL, Zulf, RODDA, Christine, TOLLEFSEN, Sherida, BROWN, Edward M, YANG, Jenny J, THAKKER, Rajesh V, CRANSTON, Treena, CURLEY, Alan J, HARDING, Brian, FRATTER, Carl, RUST, Nigel, CHRISTIE, Paul T, TURNER, Jeremy J. O
Published in Human molecular genetics (15.06.2012)
Published in Human molecular genetics (15.06.2012)
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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
Hannan, Fadil M., Nesbit, M. A., Christie, Paul T., Lissens, Willy, Van der Schueren, Bart, Bex, Marie, Bouillon, Roger, Thakker, Rajesh V.
Published in Clinical endocrinology (Oxford) (01.12.2010)
Published in Clinical endocrinology (Oxford) (01.12.2010)
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Journal Article
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis
Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A, Bentley, Liz, Christie, Paul T, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Cox, Roger D, Brown, Matthew A, Huebner, Norbert, Brown, Steve D, Thakker, Rajesh V
Published in Journal of bone and mineral research (01.07.2019)
Published in Journal of bone and mineral research (01.07.2019)
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Journal Article
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
Lemos, Manuel C., Christie, Paul T., Rodrigues, Dírcea, Thakker, Rajesh V.
Published in Clinical endocrinology (Oxford) (01.03.2016)
Published in Clinical endocrinology (Oxford) (01.03.2016)
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An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice
Gorvin, Caroline M, Ahmad, Bushra N, Stechman, Michael J, Loh, Nellie Y, Hough, Tertius A, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E, Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T, Wells, Sara, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A, Cox, Roger D, Brown, Steve D, Thakker, Rajesh V
Published in Journal of bone and mineral research (01.03.2019)
Published in Journal of bone and mineral research (01.03.2019)
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Journal Article
MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas
WALLS, Gerard V, LEMOS, Manuel C, CHRISTIE, Paul T, ANSORGE, Olaf, CLARKE, Kieran, SEYMOUR, Len, THAKKER, Rajesh V, JAVID, Mahsa, BAZAN-PEREGRINO, Miriam, JEYABALAN, Jeshmi, REED, Anita A. C, HARDING, Brian, TYLER, Damian J, STUCKEY, Daniel J, PIRET, Sian
Published in Cancer research (Chicago, Ill.) (01.10.2012)
Published in Cancer research (Chicago, Ill.) (01.10.2012)
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Asymptomatic Children with Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors
Newey, Paul J, Jeyabalan, Jeshmi, Walls, Gerard V, Christie, Paul T, Gleeson, Fergus V, Gould, Steve, Johnson, Paul R. V, Phillips, Rachel R, Ryan, Fiona J, Shine, Brian, Bowl, Michael R, Thakker, Rajesh V
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Journal Article
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, Bitner-Glindzicz, Maria, Blind, Eberhard, Bloch, Catherine, Christin, Patricia, Clayton, Peter, Gecz, Jozef, Gilbert-Dussardier, Brigitte, Guillen-Navarro, Encarna, Hackett, Anna, Halac, Isil, Hendy, Geoffrey N., Lalloo, Fiona, Mache, Christoph J., Mughal, Zulf, Ong, Albert C.M., Rinat, Choni, Shaw, Nicholas, Smithson, Sarah F., Tolmie, John, Weill, Jacques, Nesbit, M. Andrew, Thakker, Rajesh V.
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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Journal Article
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene
Thakker, Rajesh V, Hannan, Fadil M, Nesbit, M Andrew, Christie, Paul T, Fratter, Carl, Dudley, Nicholas E, Sadler, Greg P
Published in Nature clinical practice. Endocrinology & metabolism (01.01.2008)
Published in Nature clinical practice. Endocrinology & metabolism (01.01.2008)
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Journal Article
Genetic background influences tumour development in heterozygous Men1 knockout mice
Lines, Kate E, Javid, Mahsa, Reed, Anita A C, Walls, Gerard V, Stevenson, Mark, Simon, Michelle, Kooblall, Kreepa G, Piret, Sian E, Christie, Paul T, Newey, Paul J, Mallon, Ann-Marie, Thakker, Rajesh V
Published in Endocrine Connections (01.05.2020)
Published in Endocrine Connections (01.05.2020)
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Journal Article
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Published in Endocrine Connections (01.02.2020)
Published in Endocrine Connections (01.02.2020)
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Journal Article
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability
Shrimpton, Antony E, Hoopes, Jr, Richard R, Knohl, Stephen J, Hueber, Paul, Reed, Anita A C, Christie, Paul T, Igarashi, Takashi, Lee, Philip, Lehman, Anna, White, Colin, Milford, David V, Sanchez, Manuel Rivero, Unwin, Robert, Wrong, Oliver M, Thakker, Rajesh V, Scheinman, Steven J
Published in Nephron. Physiology (01.01.2009)
Published in Nephron. Physiology (01.01.2009)
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Journal Article
Intra-Renal and Subcellular Distribution of the Human Chloride Channel, CLC-5, Reveals a Pathophysiological Basis for Dent's Disease
Devuyst, Olivier, Christie, Paul T., Courtoy, Pierre J., Beauwens, Renaud, Thakker, Rajesh V.
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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Journal Article
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)
Kennedy, Ann M, Inada, Masaki, Krane, Stephen M, Christie, Paul T, Harding, Brian, López-Otín, Carlos, Sánchez, Luis M, Pannett, Anna A J, Dearlove, Andrew, Hartley, Claire, Byrne, Michael H, Reed, Anita A C, Nesbit, M Andrew, Whyte, Michael P, Thakker, Rajesh V
Published in The Journal of clinical investigation (01.10.2005)
Published in The Journal of clinical investigation (01.10.2005)
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Journal Article
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density
Harding, Brian, Curley, Alan J., Hannan, Fadil M., Christie, Paul T., Bowl, Michael R., Turner, Jeremy J. O., Barber, Mathew, Gillham-Nasenya, Irina, Hampson, Geeta, Spector, Tim D., Thakker, Rajesh V.
Published in Clinical endocrinology (Oxford) (01.11.2006)
Published in Clinical endocrinology (Oxford) (01.11.2006)
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Journal Article
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
HANNAN, Fadil M, NESBIT, M. Andrew, TURNER, Jeremy Jo, STACEY, Joanna M, CIANFEROTTI, Luisella, CHRISTIE, Paul T, CONIGRAVE, Arthur D, WHYTE, Michael P, THAKKER, Rajesh V
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
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Journal Article
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3
Hannan, Fadil M, Nesbit, M Andrew, Turner, Jeremy J O, Stacey, Joanna M, Cianferotti, Luisella, Christie, Paul T, Conigrave, Arthur D, Whyte, Michael P, Thakker, Rajesh V
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
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Journal Article
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship
Wu, Fiona, Roche, Philippe, Christie, Paul T., Loh, Nellie Y., Reed, Anita A.C., Esnouf, Robert M., Thakker, Rajesh V.
Published in Kidney international (01.04.2003)
Published in Kidney international (01.04.2003)
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