-
1
-
-
33747662305
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Journal Clinical Endocrinology and Metabolism 2006 91 2843-2850.
-
(2006)
Journal Clinical Endocrinology and Metabolism
, vol.91
, pp. 2843-2850
-
-
Perheentupa, J.1
-
2
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen P, Myllärniemi S, Sipiä I & Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New England Journal of Medicine 1990 322 1829-1836.
-
(1990)
New England Journal of Medicine
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Myllärniemi, S.2
Sipiä, I.3
Perheentupa, J.4
-
3
-
-
0035123883
-
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway
-
Myhre AG, Halonen M, Esketin P, Ekwall O, Hedstrand H, Rorsman F, Kämpe O & Husebye ES. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clinical Endocrinology 2001 54 211-217.
-
(2001)
Clinical Endocrinology
, vol.54
, pp. 211-217
-
-
Myhre, A.G.1
Halonen, M.2
Esketin, P.3
Ekwall, O.4
Hedstrand, H.5
Rorsman, F.6
Kämpe, O.7
Husebye, E.S.8
-
4
-
-
33846990524
-
Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene
-
Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM & Husebye ES. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. Journal Clinical Endocrinology and Metabolism 2007 92 595-603.
-
(2007)
Journal Clinical Endocrinology and Metabolism
, vol.92
, pp. 595-603
-
-
Wolff, A.S.1
Erichsen, M.M.2
Meager, A.3
Magitta, N.F.4
Myhre, A.G.5
Bollerslev, J.6
Fougner, K.J.7
Lima, K.8
Knappskog, P.M.9
Husebye, E.S.10
-
5
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
The Finnish-German APECED Consortium
-
The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genetics 1997 17 399-403.
-
(1997)
Nature Genetics
, vol.17
, pp. 399-403
-
-
-
6
-
-
16944367194
-
Positional cloning of the APECED gene
-
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F & Shimizu N. Positional cloning of the APECED gene. Nature Genetics 1997 17 393-398.
-
(1997)
Nature Genetics
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
Krohn, K.J.7
Lalioti, M.D.8
Mullis, P.E.9
Antonarakis, S.E.10
Kawasaki, K.11
Asakawa, S.12
Ito, F.13
Shimizu, N.14
-
7
-
-
0037112047
-
Projection of an immunological self shadow within the thymus by the aire protein
-
Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C & Mathis D. Projection of an immunological self shadow within the thymus by the aire protein. Science 2002 298 1395-1401.
-
(2002)
Science
, vol.298
, pp. 1395-1401
-
-
Anderson, M.S.1
Venanzi, E.S.2
Klein, L.3
Chen, Z.4
Berzins, S.P.5
Turley, S.J.6
von Boehmer, H.7
Bronson, R.8
Dierich, A.9
Benoist, C.10
Mathis, D.11
-
8
-
-
0037790522
-
Autoimmune regulator: From loss of function to autoimmunity
-
Pitkänen J & Peterson P. Autoimmune regulator: from loss of function to autoimmunity. Genes and Immunity 2003 4 12-21.
-
(2003)
Genes and Immunity
, vol.4
, pp. 12-21
-
-
Pitkänen, J.1
Peterson, P.2
-
9
-
-
10744233772
-
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type 1
-
Söderbergh A, Myhre AG, Ekwall O, Gebre-Medhin G, Hedstrand H, Landgren E, Miettinen A, Eskelin P, Halonen M, Tuomi T, Gustafsson J, Husebye ES, Perheentupa J, Gylling M, Manns MP, Rorsman F, Kämpe O & Nilsson T. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type 1. Journal Clinical Endocrinology and Metabolism 2004 89 557-562.
-
(2004)
Journal Clinical Endocrinology and Metabolism
, vol.89
, pp. 557-562
-
-
Söderbergh, A.1
Myhre, A.G.2
Ekwall, O.3
Gebre-Medhin, G.4
Hedstrand, H.5
Landgren, E.6
Miettinen, A.7
Eskelin, P.8
Halonen, M.9
Tuomi, T.10
Gustafsson, J.11
Husebye, E.S.12
Perheentupa, J.13
Gylling, M.14
Manns, M.P.15
Rorsman, F.16
Kämpe, O.17
Nilsson, T.18
-
10
-
-
33746423947
-
Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1
-
Meager A, Visvalingam K, Peterson P, Moll K, Murumagi A, Krohn K, Eskelin P, Perheentupa J, Husebye E, Kadota Y & Willcox N. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Medicine 2006 3 e289.
-
(2006)
PLoS Medicine
, vol.3
-
-
Meager, A.1
Visvalingam, K.2
Peterson, P.3
Moll, K.4
Murumagi, A.5
Krohn, K.6
Eskelin, P.7
Perheentupa, J.8
Husebye, E.9
Kadota, Y.10
Willcox, N.11
-
11
-
-
0036227139
-
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I
-
Boe AS, Knappskog PM, Myhre AG, Sörheim JI & Husebye ES. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. European Journal of Endocrinology 2002 146 519-522.
-
(2002)
European Journal of Endocrinology
, vol.146
, pp. 519-522
-
-
Boe, A.S.1
Knappskog, P.M.2
Myhre, A.G.3
Sörheim, J.I.4
Husebye, E.S.5
-
12
-
-
0032566209
-
Identification of tryptophan hydroxylase as an intestinal autoantigen
-
Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, Husebye E, Kämpe O & Rorsman F. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998 352 279-283.
-
(1998)
Lancet
, vol.352
, pp. 279-283
-
-
Ekwall, O.1
Hedstrand, H.2
Grimelius, L.3
Haavik, J.4
Perheentupa, J.5
Gustafsson, J.6
Husebye, E.7
Kämpe, O.8
Rorsman, F.9
-
13
-
-
0037961060
-
Autoinumme polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: Time to review diagnostic criteria?
-
Buzi F, Badolato R, Mazza C, Giliani S, Notarangelo LD, Radetti G & Plebani A. Autoinumme polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? Journal Clinical Endocrinology and Metabolism 2003 88 3146-3148.
-
(2003)
Journal Clinical Endocrinology and Metabolism
, vol.88
, pp. 3146-3148
-
-
Buzi, F.1
Badolato, R.2
Mazza, C.3
Giliani, S.4
Notarangelo, L.D.5
Radetti, G.6
Plebani, A.7
-
14
-
-
0038054450
-
Adrenal insufficiency
-
Arlt W & Allolio B. Adrenal insufficiency. Lancet 2003 361 1881-1893.
-
(2003)
Lancet
, vol.361
, pp. 1881-1893
-
-
Arlt, W.1
Allolio, B.2
-
15
-
-
0242536432
-
Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy protein
-
Bj̈orses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I & Peltonen L. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy protein. American Journal of Human Genetics 2000 66 378-392.
-
(2000)
American Journal of Human Genetics
, vol.66
, pp. 378-392
-
-
Bj̈orses, P.1
Halonen, M.2
Palvimo, J.J.3
Kolmer, M.4
Aaltonen, J.5
Ellonen, P.6
Perheentupa, J.7
Ulmanen, I.8
Peltonen, L.9
-
16
-
-
0026481974
-
Polyglandular autoimmune syndrome type I among Iranian Jews
-
Zlotogora J & Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. Journal of Medical Genetics 1992 29 824-826.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
-
17
-
-
0035069590
-
Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome
-
Meyer G, Donner H, Herwig I, Bohles H, Usadel KH & Badenhoop K. Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome. Clinical Endocrinology 2001 54 335-338.
-
(2001)
Clinical Endocrinology
, vol.54
, pp. 335-338
-
-
Meyer, G.1
Donner, H.2
Herwig, I.3
Bohles, H.4
Usadel, K.H.5
Badenhoop, K.6
-
18
-
-
17744373659
-
Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease
-
Vaidya B, Imrie H, Geatch DR, Perros P, Ball SG, Baylis PH, Carr D, Hurel SJ, James RA, Kelly WF, Kemp EH, Young ET, Weetman AP, Kendall-Taylor P & Pearce SH. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. Journal Clinical Endocrinology and Metabolism 2000 85 688-691.
-
(2000)
Journal Clinical Endocrinology and Metabolism
, vol.85
, pp. 688-691
-
-
Vaidya, B.1
Imrie, H.2
Geatch, D.R.3
Perros, P.4
Ball, S.G.5
Baylis, P.H.6
Carr, D.7
Hurel, S.J.8
James, R.A.9
Kelly, W.F.10
Kemp, E.H.11
Young, E.T.12
Weetman, A.P.13
Kendall-Taylor, P.14
Pearce, S.H.15
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