The Codon 620 Tryptophan Allele of the Lymphoid Tyrosine Phosphatase (LYP) Gene Is a Major Determinant of Graves’ Disease
Velaga, M. R, Wilson, V, Jennings, C. E, Owen, C. J, Herington, S, Donaldson, P. T, Ball, S. G, James, R. A, Quinton, R, Perros, P, Pearce, S. H. S
Published in The journal of clinical endocrinology and metabolism (01.11.2004)
Published in The journal of clinical endocrinology and metabolism (01.11.2004)
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Influences of Age, Gender, Smoking, and Family History on Autoimmune Thyroid Disease Phenotype
Manji, N, Carr-Smith, J. D, Boelaert, K, Allahabadia, A, Armitage, M, Chatterjee, V. K, Lazarus, J. H, Pearce, S. H. S, Vaidya, B, Gough, S. C, Franklyn, J. A
Published in The journal of clinical endocrinology and metabolism (01.12.2006)
Published in The journal of clinical endocrinology and metabolism (01.12.2006)
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Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts
Mitchell, Anna L, Macarthur, Katie D R, Gan, Earn H, Baggott, Lucy E, Wolff, Anette S B, Skinningsrud, Beate, Platt, Hazel, Short, Andrea, Lobell, Anna, Kämpe, Olle, Bensing, Sophie, Betterle, Corrado, Kasperlik-Zaluska, Anna, Zurawek, Magdalena, Fichna, Marta, Kockum, Ingrid, Nordling Eriksson, Gabriel, Ekwall, Olov, Wahlberg, Jeanette, Dahlqvist, Per, Hulting, Anna-Lena, Penna-Martinez, Marissa, Meyer, Gesine, Kahles, Heinrich, Badenhoop, Klaus, Hahner, Stephanie, Quinkler, Marcus, Falorni, Alberto, Phipps-Green, Amanda, Merriman, Tony R, Ollier, William, Cordell, Heather J, Undlien, Dag, Czarnocka, Barbara, Husebye, Eystein, Pearce, Simon H S
Published in PloS one (2014)
Published in PloS one (2014)
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The Genetics of Autoimmune Thyroid Disease
Vaidya, Bijayeswar, Kendall-Taylor, Pat, Pearce, Simon H. S
Published in The journal of clinical endocrinology and metabolism (01.12.2002)
Published in The journal of clinical endocrinology and metabolism (01.12.2002)
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Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus
Mitchell, Anna L, Bøe Wolff, Anette, MacArthur, Katie, Weaver, Jolanta U, Vaidya, Bijay, Erichsen, Martina M, Darlay, Rebecca, Husebye, Eystein S, Cordell, Heather J, Pearce, Simon H S
Published in PloS one (04.06.2015)
Published in PloS one (04.06.2015)
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Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome
Owen, Catherine J, Jennings, Claire E, Imrie, Helen, Lachaux, Alain, Bridges, Nicola A, Cheetham, Tim D, Pearce, Simon H. S
Published in The journal of clinical endocrinology and metabolism (01.12.2003)
Published in The journal of clinical endocrinology and metabolism (01.12.2003)
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A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor
Pearce, Simon H.S, Williamson, Catherine, Kifor, Olga, Bai, Mei, Coulthard, Malcolm G, Davies, Michael, Lewis-Barned, Nicholas, McCredie, David, Powell, Harley, Kendall-Taylor, Pat, Brown, Edward M, Thakker, Rajesh V
Published in The New England journal of medicine (10.10.1996)
Published in The New England journal of medicine (10.10.1996)
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A common molecular basis for three inherited kidney stone diseases
Lloyd, Sarah E, Pearce, Simon H. S, Fisher, Simon E, Steinmeyer, Klaus, Schwappach, Blanche, Scheinman, Steven J, Harding, Brian, Bolino, Alessandra, Devoto, Marcella, Goodyer, Paul, Rigden, Susan P. A, Wrong, Oliver, Jentsch, Thomas J, Craig, Ian W, Thakker, Rajesh V
Published in Nature (London) (01.02.1996)
Published in Nature (London) (01.02.1996)
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The Cytotoxic T Lymphocyte Antigen-4 is a Major Graves' Disease Locus
Vaidya, Bijayeswar, Imrie, Helen, Perros, Petros, Young, Eric T., Kelly, William F., Carr, David, Large, David M., Toft, Anthony D., McCarthy, Mark I., Kendall-Taylor, Pat, Pearce, Simon H. S.
Published in Human molecular genetics (01.07.1999)
Published in Human molecular genetics (01.07.1999)
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CTLA-4 as a genetic determinant in autoimmune Addison's disease
Wolff, A S B, Mitchell, A L, Cordell, H J, Short, A, Skinningsrud, B, Ollier, W, Badenhoop, K, Meyer, G, Falorni, A, Kampe, O, Undlien, D, Pearce, S H S, Husebye, E S
Published in Genes and immunity (01.09.2015)
Published in Genes and immunity (01.09.2015)
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An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies
Vaidya, B., Pearce, S. H. S., Charlton, S., Marshall, N., Rowan, A. D., Griffiths, I. D., Kendall‐Taylor, P., Cawston, T. E., Young‐Min, S.
Published in Rheumatology (Oxford, England) (01.02.2002)
Published in Rheumatology (Oxford, England) (01.02.2002)
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A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1
Pearce, Simon H.S., Cheetham, Tim, Imrie, Helen, Vaidya, Bijayeswar, Barnes, Nicholas D., Bilous, Rudolf W., Carr, David, Meeran, Karim, Shaw, Nicholas J., Smith, Colin S., Toft, Anthony D., Williams, Gareth, Kendall-Taylor, Pat
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
Bai, M, Pearce, S H, Kifor, O, Trivedi, S, Stauffer, U G, Thakker, R V, Brown, E M, Steinmann, B
Published in The Journal of clinical investigation (01.01.1997)
Published in The Journal of clinical investigation (01.01.1997)
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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, Heath, D A, Hughes, I A, Paterson, C R, Whyte, M P
Published in The Journal of clinical investigation (01.12.1995)
Published in The Journal of clinical investigation (01.12.1995)
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