-
1
-
-
0030926893
-
The prevalence of Addison's disease in Coventry, UK
-
doi:10.1136/pgmj.73.859.286
-
Willis AC & Vince FP. The prevalence of Addison's disease in Coventry, UK. Postgraduate Medical Journal 1997 73 286-288. (doi:10.1136/pgmj. 73.859.286)
-
(1997)
Postgraduate Medical Journal
, vol.73
, pp. 286-288
-
-
Willis, A.C.1
Vince, F.P.2
-
2
-
-
73249138400
-
Clinical, immunological and genetic features of autoimmune primary adrenal insufficiency: Observations from a Norwegian registry
-
doi:10.1210/jc.2009-1368
-
Erichsen MM, Lovas K, Skinningsrud B, Wolff AB, Undlien DE, Svartberg J, Fougner KJ, Berg TJ, Bollerslev J, Mella B et al. Clinical, immunological and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. Journal of Clinical Endocrinology and Metabolism 2009 94 4482-4490. (doi:10.1210/jc.2009-1368)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 4482-4490
-
-
Erichsen, M.M.1
Lovas, K.2
Skinningsrud, B.3
Wolff, A.B.4
Undlien, D.E.5
Svartberg, J.6
Fougner, K.J.7
Berg, T.J.8
Bollerslev, J.9
Mella, B.10
-
3
-
-
84859956513
-
Pathogenesis and genetic complexity of autoimmune Addison's disease
-
doi:10.1038/nrendo.2011.245
-
Mitchell AL & Pearce SHS. Pathogenesis and genetic complexity of autoimmune Addison's disease. Nature Reviews. Endocrinology 2012 8 306-316. (doi:10.1038/nrendo.2011.245)
-
(2012)
Nature Reviews. Endocrinology
, vol.8
, pp. 306-316
-
-
Mitchell, A.L.1
Pearce, S.H.S.2
-
4
-
-
60349083325
-
The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease
-
doi:10.1111/j.1365-2265.2008.03380.x
-
Roycroft M, Fichna M, McDonald D, Owen K, Zurawek M, Gryczyńska M, Januszkiewicz-Lewandowska D, Fichna P, Cordell H, Donaldson P et al. The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease. Clinical Endocrinology 2009 70 358-362. (doi:10.1111/j.1365-2265.2008.03380.x)
-
(2009)
Clinical Endocrinology
, vol.70
, pp. 358-362
-
-
Roycroft, M.1
Fichna, M.2
McDonald, D.3
Owen, K.4
Zurawek, M.5
Gryczyńska, M.6
Januszkiewicz-Lewandowska, D.7
Fichna, P.8
Cordell, H.9
Donaldson, P.10
-
5
-
-
75149154791
-
Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies
-
doi:10.1530/EJE-09-0618
-
Brozzetti A, Marzotti S, Tortoioli C, Bini V, Giordano R, Dotta F, Betterle C, De Bellis A, Arnaldi G, Toscano V et al. Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies. European Journal of Endocrinology 2010 162 361-369. (doi:10.1530/EJE-09-0618)
-
(2010)
European Journal of Endocrinology
, vol.162
, pp. 361-369
-
-
Brozzetti, A.1
Marzotti, S.2
Tortoioli, C.3
Bini, V.4
Giordano, R.5
Dotta, F.6
Betterle, C.7
De Bellis, A.8
Arnaldi, G.9
Toscano, V.10
-
6
-
-
51749098572
-
Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
-
Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, Løvå s K, Egeland T & Undlien DE. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. Journal of Clinical Endocrinology and Metabolism 2008 93 3310-3317.
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 3310-3317
-
-
Skinningsrud, B.1
Husebye, E.S.2
Pearce, S.H.3
McDonald, D.O.4
Brandal, K.5
Wolff, A.B.6
Løvås, K.7
Egeland, T.8
Undlien, D.E.9
-
7
-
-
73249150365
-
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility
-
doi:10.1210/jc.2009-1404
-
Mitchell AL, Cordell HJ, Soemedi R, Owen K, Skinningsrud B, Wolff AB, Ericksen M, Undlien D, Husebye E & Pearce SH. Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility. Journal of Clinical Endocrinology and Metabolism 2009 94 5139-5145. (doi:10.1210/jc.2009-1404)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 5139-5145
-
-
Mitchell, A.L.1
Cordell, H.J.2
Soemedi, R.3
Owen, K.4
Skinningsrud, B.5
Wolff, A.B.6
Ericksen, M.7
Undlien, D.8
Husebye, E.9
Pearce, S.H.10
-
8
-
-
21344464689
-
A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population
-
doi:10.1677/jme.1.01760
-
Jennings CE, Owen CJ, Wilson V & Pearce SH. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. Journal of Molecular Endocrinology 2005 34 859-863. (doi:10.1677/jme.1.01760)
-
(2005)
Journal of Molecular Endocrinology
, vol.34
, pp. 859-863
-
-
Jennings, C.E.1
Owen, C.J.2
Wilson, V.3
Pearce, S.H.4
-
9
-
-
61849088045
-
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes
-
doi:10.1038/gene.2008.85
-
Magitta NF, Bøe Wolff AS, Johansson S, Skinningsrud B, Lie BA, Myhr KM, Undlien DE, Joner G, Njølstad PR, Kvien TK et al. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity 2009 10 120-124. (doi:10.1038/gene.2008.85)
-
(2009)
Genes and Immunity
, vol.10
, pp. 120-124
-
-
Magitta, N.F.1
Bøe Wolff, A.S.2
Johansson, S.3
Skinningsrud, B.4
Lie, B.A.5
Myhr, K.M.6
Undlien, D.E.7
Joner, G.8
Njølstad, P.R.9
Kvien, T.K.10
-
10
-
-
77951938522
-
A coding variant in NLRP1 is associated with autoimmune Addison's disease
-
doi:10.1016/j.humimm.2010.02.004
-
Zurawek M, Fichna M, Januszkiewicz-Lewandowska D, Gryczyńska M, Fichna P & Nowak J. A coding variant in NLRP1 is associated with autoimmune Addison's disease. Human Immunology 2010 71 530. (doi:10.1016/j.humimm.2010.02. 004)
-
(2010)
Human Immunology
, vol.71
, pp. 530
-
-
Zurawek, M.1
Fichna, M.2
Januszkiewicz-Lewandowska, D.3
Gryczyńska, M.4
Fichna, P.5
Nowak, J.6
-
11
-
-
77954543178
-
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
-
doi:10.1038/nature09115
-
Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S et al. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature 2010 466 243-247. (doi:10.1038/nature09115)
-
(2010)
Nature
, vol.466
, pp. 243-247
-
-
Surolia, I.1
Pirnie, S.P.2
Chellappa, V.3
Taylor, K.N.4
Cariappa, A.5
Moya, J.6
Liu, H.7
Bell, D.W.8
Driscoll, D.R.9
Diederichs, S.10
-
12
-
-
84555191729
-
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
-
doi:10.1038/ng.1037
-
Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC, Bhaw-Rosun L, Bockett NA et al. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics 2011 44 3-5. (doi:10.1038/ng.1037)
-
(2011)
Nature Genetics
, vol.44
, pp. 3-5
-
-
Hunt, K.A.1
Smyth, D.J.2
Balschun, T.3
Ban, M.4
Mistry, V.5
Ahmad, T.6
Anand, V.7
Barrett, J.C.8
Bhaw-Rosun, L.9
Bockett, N.A.10
-
13
-
-
79958015275
-
Evaluation of of the TREX 1 gene in a large multi-ancestral lupus cohort
-
doi:10.1038/gene.2010.73
-
Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcón-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA et al. Evaluation of of the TREX 1 gene in a large multi-ancestral lupus cohort. Genes and Immunity 2011 12 270-279. (doi:10.1038/gene.2010.73)
-
(2011)
Genes and Immunity
, vol.12
, pp. 270-279
-
-
Namjou, B.1
Kothari, P.H.2
Kelly, J.A.3
Glenn, S.B.4
Ojwang, J.O.5
Adler, A.6
Alarcón-Riquelme, M.E.7
Gallant, C.J.8
Boackle, S.A.9
Criswell, L.A.10
-
14
-
-
84255175933
-
Rare variants in the CYP27B1 gene are associated with multiple sclerosis
-
doi:10.1002/ana.22678
-
Ramagopalan SV, Dyment DA, Cader MZ, Morrison KM, Disanto G, Morahan JM, Berlanga-Taylor AJ, Handel A, De Luca GC, Sadovnick AD et al. Rare variants in the CYP27B1 gene are associated with multiple sclerosis. Annals of Neurology 2011 70 881-886. (doi:10.1002/ana.22678)
-
(2011)
Annals of Neurology
, vol.70
, pp. 881-886
-
-
Ramagopalan, S.V.1
Dyment, D.A.2
Cader, M.Z.3
Morrison, K.M.4
Disanto, G.5
Morahan, J.M.6
Berlanga-Taylor, A.J.7
Handel, A.8
De Luca, G.C.9
Sadovnick, A.D.10
-
15
-
-
70349559578
-
Esterases and autoimmunity: The sialic acid acetylesterase pathway and the regulation of peripheral B cell tolerance
-
doi:10.1016/j.it.2009.07.006
-
Pillai S, Cariappa A & Pirnie SP. Esterases and autoimmunity: the sialic acid acetylesterase pathway and the regulation of peripheral B cell tolerance. Trends in Immunology 2009 30 488-493. (doi:10.1016/j.it.2009.07.006)
-
(2009)
Trends in Immunology
, vol.30
, pp. 488-493
-
-
Pillai, S.1
Cariappa, A.2
Pirnie, S.P.3
-
16
-
-
80955177504
-
Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population
-
doi:10.1111/j.1399-0039.2011.01703.x
-
Szymański K, Skórka A, Szypowska A, Bednarczuk T & Płoski R. Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. Tissue Antigens 2011 78 214-216. (doi:10.1111/j.1399-0039.2011.01703.x)
-
(2011)
Tissue Antigens
, vol.78
, pp. 214-216
-
-
Szymański, K.1
Skórka, A.2
Szypowska, A.3
Bednarczuk, T.4
Płoski, R.5
-
17
-
-
84862783975
-
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes
-
doi:10.1038/gene.2011.89
-
Hirschfield GM, Xie G, Lu E, Sun Y, Juran BD, Chellappa V, Coltescu C, Mason AL, Milkiewicz P, Myers RP et al. Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. Genes and Immunity 2012 13 328-335. (doi:10.1038/gene.2011.89)
-
(2012)
Genes and Immunity
, vol.13
, pp. 328-335
-
-
Hirschfield, G.M.1
Xie, G.2
Lu, E.3
Sun, Y.4
Juran, B.D.5
Chellappa, V.6
Coltescu, C.7
Mason, A.L.8
Milkiewicz, P.9
Myers, R.P.10
-
18
-
-
80051968181
-
Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
-
doi:10.1038/nrg3046
-
Cooper GM & Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews. Genetics 2011 12 628-640. (doi:10.1038/nrg3046)
-
(2011)
Nature Reviews. Genetics
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
|