-
1
-
-
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. Nat Genet. 1997;17(4):393-398
-
(1997)
Nat Genet
, vol.17
, Issue.4
, 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
-
2
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
Finnish-German APECED Consortium
-
Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17(4):399-403
-
(1997)
Nat Genet
, vol.17
, Issue.4
, pp. 399-403
-
-
-
3
-
-
2342458361
-
Autoimmune polyendocrine syndromes
-
Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004;350(20):2068-2079
-
(2004)
N Engl J Med
, vol.350
, Issue.20
, pp. 2068-2079
-
-
Eisenbarth, G.S.1
Gottlieb, P.A.2
-
4
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990;322(26):1829-1836
-
(1990)
N Engl J Med
, vol.322
, Issue.26
, pp. 1829-1836
-
-
Ahonen, P.1
Myllarniemi, S.2
Sipila, I.3
Perheentupa, J.4
-
5
-
-
0036081840
-
APS-I/APECED: The clinical disease and therapy
-
Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 2002;31(2):295-320
-
(2002)
Endocrinol Metab Clin North Am
, vol.31
, Issue.2
, pp. 295-320
-
-
Perheentupa, J.1
-
6
-
-
33747662305
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006;91(8):2843-2850
-
(2006)
J Clin Endocrinol Metab
, vol.91
, Issue.8
, pp. 2843-2850
-
-
Perheentupa, J.1
-
7
-
-
0026481974
-
Polyglandular autoimmune syndrome type I among Iranian Jews
-
Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 1992;29(11):824-826
-
(1992)
J Med Genet
, vol.29
, Issue.11
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
-
8
-
-
0031753977
-
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy patients
-
DOI 10.1007/s004390050846
-
Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998;103(4):428-434 (Pubitemid 28542953)
-
(1998)
Human Genetics
, vol.103
, Issue.4
, pp. 428-434
-
-
Rosatelli, M.C.1
Meloni, A.2
Meloni, A.3
Devoto, M.4
Cao, A.5
Scott, H.S.6
Peterson, P.7
Heino, M.8
Krohn, K.J.E.9
Nagamine, K.10
Kudoh, J.11
Shimizu, N.12
Antonarakis, S.E.13
-
9
-
-
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. J Clin Endocrinol Metab 2007;92(2):595-603
-
(2007)
J Clin Endocrinol Metab
, vol.92
, Issue.2
, 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
-
10
-
-
33845706149
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population
-
Dominguez M, Crushell E, Ilmarinen T, McGovern E, Collins S, Chang B, Fleming P, Irvine AD, Brosnahan D, Ulmanen I, Murphy N, Costigan C. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population. J Pediatr Endocrinol Metab 2006;19(11):1343-1352 (Pubitemid 44963845)
-
(2006)
Journal of Pediatric Endocrinology and Metabolism
, vol.19
, Issue.11
, pp. 1343-1352
-
-
Dominguez, M.1
Crushell, E.2
Ilmarinen, T.3
McGovern, E.4
Collins, S.5
Chang, B.6
Fleming, P.7
Irvine, A.D.8
Brosnahan, D.9
Ulmanen, I.10
Murphy, N.11
Costigan, C.12
-
11
-
-
33748299062
-
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: Novel AIRE mutations and an estimate of disease prevalence
-
DOI 10.1111/j.1399-0004.2006.00690.x
-
Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowinska E, Wlodarski P, Skorka A, Gremida M, Krajewski P, Ploski R. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet 2006;70(4):348-354 (Pubitemid 44323402)
-
(2006)
Clinical Genetics
, vol.70
, Issue.4
, pp. 348-354
-
-
Stolarski, B.1
Pronicka, E.2
Korniszewski, L.3
Pollak, A.4
Kostrzewa, G.5
Rowinska, E.6
Wlodarski, P.7
Skorka, A.8
Gremida, M.9
Krajewski, P.10
Ploski, R.11
-
12
-
-
64549115221
-
Clinical review 93: Autoimmune polyglandular syndrome type 1
-
Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998;83(4):1049-1055
-
(1998)
J Clin Endocrinol Metab
, vol.83
, Issue.4
, pp. 1049-1055
-
-
Betterle, C.1
Greggio, N.A.2
Volpato, M.3
-
13
-
-
0030931352
-
High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH
-
Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J, Myers R, Palotie A, Peltonen L. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res 1997;7(8):820-829
-
(1997)
Genome Res
, vol.7
, Issue.8
, pp. 820-829
-
-
Aaltonen, J.1
Horelli-Kuitunen, N.2
Fan, J.B.3
Bjorses, P.4
Perheentupa, J.5
Myers, R.6
Palotie, A.7
Peltonen, L.8
-
14
-
-
0038486459
-
Localization of the APECED protein in distinct nuclear structures
-
Bjorses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I. Localization of the APECED protein in distinct nuclear structures. Hum Mol Genet 1999;8(2):259-266
-
(1999)
Hum Mol Genet
, vol.8
, Issue.2
, pp. 259-266
-
-
Bjorses, P.1
Pelto-Huikko, M.2
Kaukonen, J.3
Aaltonen, J.4
Peltonen, L.5
Ulmanen, I.6
-
15
-
-
0033012337
-
The mouse aire gene: Comparative genomic sequencing, gene organization, and expression
-
Blechschmidt K, Schweiger M, Wertz K, Poulson R, Christensen HM, Rosenthal A, Lehrach H, Yaspo ML. The mouse aire gene: comparative genomic sequencing, gene organization, and expression. Genome Res 1999;9(2):158-166
-
(1999)
Genome Res
, vol.9
, Issue.2
, pp. 158-166
-
-
Blechschmidt, K.1
Schweiger, M.2
Wertz, K.3
Poulson, R.4
Christensen, H.M.5
Rosenthal, A.6
Lehrach, H.7
Yaspo, M.L.8
-
16
-
-
0033590981
-
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla
-
DOI 10.1006/bbrc.1999.0308
-
Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn K. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem Biophys Res Commun 1999;257(3):821-825 (Pubitemid 29301524)
-
(1999)
Biochemical and Biophysical Research Communications
, vol.257
, Issue.3
, pp. 821-825
-
-
Heino, M.1
Peterson, P.2
Kudoh, J.3
Nagamine, K.4
Lagerstedt, A.5
Ovod, V.6
Ranki, A.7
Rantala, I.8
Nieminen, M.9
Tuukkanen, J.10
Scott, H.S.11
Antonarakis, S.E.12
Shimizu, N.13
Krohn, K.14
-
17
-
-
0032754773
-
Expression and alternative splicing of the mouse autoimmune regulator gene (aire)
-
Ruan QG, Wang CY, Shi JD, She JX. Expression and alternative splicing of the mouse autoimmune regulator gene (aire). J Autoimmun 1999;13(3):307-313
-
(1999)
J Autoimmun
, vol.13
, Issue.3
, pp. 307-313
-
-
Ruan, Q.G.1
Wang, C.Y.2
Shi, J.D.3
She, J.X.4
-
18
-
-
0034662906
-
Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy- Candidiasis-ectodermal dystrophy (APECED)
-
Zuklys S, Batciunaite G, Agarwal A, Fasler-Kan E, Palmer E, Hollander GA. Normal thymic architecture and negative selection are associated with aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED). J Immunol 2000;165(4):1976-1983 (Pubitemid 30648747)
-
(2000)
Journal of Immunology
, vol.165
, Issue.4
, pp. 1976-1983
-
-
Zuklys, S.1
Balciunaite, G.2
Agarwal, A.3
Fasler-Kan, E.4
Palmer, E.5
Hollander, G.A.6
-
19
-
-
22344449972
-
Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels
-
Derbinski J, Gabler J, Brors B, Tierling S, Jonnakuty S, Hergenhahn M, Peltonen L, Walter J, Kyewski B. Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels. J Exp Med 2005;202(1):33-45
-
(2005)
J Exp Med
, vol.202
, Issue.1
, pp. 33-45
-
-
Derbinski, J.1
Gabler, J.2
Brors, B.3
Tierling, S.4
Jonnakuty, S.5
Hergenhahn, M.6
Peltonen, L.7
Walter, J.8
Kyewski, B.9
-
20
-
-
33646165128
-
A central role for central tolerance
-
Kyewski B, Klein L. A central role for central tolerance. Annu Rev Immunol 2006;24:571-606
-
(2006)
Annu Rev Immunol
, vol.24
, pp. 571-606
-
-
Kyewski, B.1
Klein, L.2
-
21
-
-
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(5597):1395-1401
-
(2002)
Science
, vol.298
, Issue.5597
, 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
-
22
-
-
0037383758
-
Aire regulates negative selection of organ-specific T cells
-
DOI 10.1038/ni906
-
Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T cells. Nat Immunol 2003;4(4):350-354 (Pubitemid 36432317)
-
(2003)
Nature Immunology
, vol.4
, Issue.4
, pp. 350-354
-
-
Liston, A.1
Lesage, S.2
Wilson, J.3
Peltonen, L.4
Goodnow, C.C.5
-
23
-
-
7244227646
-
Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity
-
DOI 10.1084/jem.20040581
-
Liston A, Gray DH, Lesage S, Fletcher AL, Wilson J, Webster KE, Scott HS, Boyd RL, Peltonen L, Goodnow CC. Gene dosage-limiting role of aire in thymic expression, clonal deletion, and organ-specific autoimmunity. J Exp Med 2004;200(8):1015-1026 (Pubitemid 39431126)
-
(2004)
Journal of Experimental Medicine
, vol.200
, Issue.8
, pp. 1015-1026
-
-
Liston, A.1
Gray, D.H.D.2
Lesage, S.3
Fletcher, A.L.4
Wilson, J.5
Webster, K.E.6
Scott, H.S.7
Boyd, R.L.8
Peltonen, L.9
Goodnow, C.C.10
-
24
-
-
23844558032
-
The cellular mechanism of aire control of T cell tolerance
-
Anderson MS, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D. The cellular mechanism of aire control of T cell tolerance. Immunity 2005;23(2):227-239
-
(2005)
Immunity
, vol.23
, Issue.2
, pp. 227-239
-
-
Anderson, M.S.1
Venanzi, E.S.2
Chen, Z.3
Berzins, S.P.4
Benoist, C.5
Mathis, D.6
-
25
-
-
33748714526
-
Aire-deficient mice develop hematopoetic irregularities and marginal zone B-cell lymphoma
-
Hassler S, Ramsey C, Karlsson MC, Larsson D, Herrmann B, Rozell B, Backheden M, Peltonen L, Kampe O, Winqvist O. Aire-deficient mice develop hematopoetic irregularities and marginal zone B-cell lymphoma. Blood 2006;108(6):1941-1948
-
(2006)
Blood
, vol.108
, Issue.6
, pp. 1941-1948
-
-
Hassler, S.1
Ramsey, C.2
Karlsson, M.C.3
Larsson, D.4
Herrmann, B.5
Rozell, B.6
Backheden, M.7
Peltonen, L.8
Kampe, O.9
Winqvist, O.10
-
26
-
-
57449102159
-
AIRE regulates T-cell-independent B-cell responses through BAFF
-
Lindh E, Lind SM, Lindmark E, Hassler S, Perheentupa J, Peltonen L, Winqvist O, Karlsson MC. AIRE regulates T-cell-independent B-cell responses through BAFF. Proc Natl Acad Sci U S A 2008;105(47):18466-18471
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.47
, pp. 18466-18471
-
-
Lindh, E.1
Lind, S.M.2
Lindmark, E.3
Hassler, S.4
Perheentupa, J.5
Peltonen, L.6
Winqvist, O.7
Karlsson, M.C.8
-
27
-
-
52549099420
-
Critical immunological pathways are downregulated in APECED patient dendritic cells
-
Pontynen N, Strengell M, Sillanpaa N, Saharinen J, Ulmanen I, Julkunen I, Peltonen L. Critical immunological pathways are downregulated in APECED patient dendritic cells. J Mol Med 2008;86(10):1139-1152
-
(2008)
J Mol Med
, vol.86
, Issue.10
, pp. 1139-1152
-
-
Pontynen, N.1
Strengell, M.2
Sillanpaa, N.3
Saharinen, J.4
Ulmanen, I.5
Julkunen, I.6
Peltonen, L.7
-
28
-
-
57349083325
-
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I
-
Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, Pura M, Boe Wolff AS, Husebye ES, Lilic D, Ryan KR, Gennery AR, Cant AJ, Abinun M, Spickett GP, Arkwright PD, Denning D, Costigan C, Dominguez M, McConnell V, Willcox N, Meager A. Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2008;93(11):4389-4397
-
(2008)
J Clin Endocrinol Metab
, vol.93
, Issue.11
, pp. 4389-4397
-
-
Meloni, A.1
Furcas, M.2
Cetani, F.3
Marcocci, C.4
Falorni, A.5
Perniola, R.6
Pura, M.7
Boe Wolff, A.S.8
Husebye, E.S.9
Lilic, D.10
Ryan, K.R.11
Gennery, A.R.12
Cant, A.J.13
Abinun, M.14
Spickett, G.P.15
Arkwright, P.D.16
Denning, D.17
Costigan, C.18
Dominguez, M.19
McConnell, V.20
Willcox, N.21
Meager, A.22
more..
-
29
-
-
51249103389
-
Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I
-
Oftedal BE, Wolff AS, Bratland E, Kampe O, Perheentupa J, Myhre AG, Meager A, Purushothaman R, Ten S, Husebye ES. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clin Immunol 2008;129(1):163-169
-
(2008)
Clin Immunol
, vol.129
, Issue.1
, pp. 163-169
-
-
Oftedal, B.E.1
Wolff, A.S.2
Bratland, E.3
Kampe, O.4
Perheentupa, J.5
Myhre, A.G.6
Meager, A.7
Purushothaman, R.8
Ten, S.9
Husebye, E.S.10
-
30
-
-
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 Med 2006;3(7):e289
-
(2006)
PLoS Med
, vol.3
, Issue.7
-
-
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
-
31
-
-
33746421486
-
Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1
-
Levin M. Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006;3(7):e292
-
(2006)
PLoS Med
, vol.3
, Issue.7
-
-
Levin, M.1
-
32
-
-
35248858705
-
A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1
-
DOI 10.1016/j.clim.2007.07.015, PII S1521661607012922
-
Zhang L, Barker JM, Babu S, Su M, Stenerson M, Cheng M, Shum A, Zamir E, Badolato R, Law A, Eisenbarth GS, Anderson MS. A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clin Immunol 2007;125(2):131-137 (Pubitemid 47566460)
-
(2007)
Clinical Immunology
, vol.125
, Issue.2
, pp. 131-137
-
-
Zhang, L.1
Barker, J.M.2
Babu, S.3
Su, M.4
Stenerson, M.5
Cheng, M.6
Shum, A.7
Zamir, E.8
Badolato, R.9
Law, A.10
Eisenbarth, G.S.11
Anderson, M.S.12
-
33
-
-
40449109084
-
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
-
Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008;358(10):1018-1028
-
(2008)
N Engl J Med
, vol.358
, Issue.10
, pp. 1018-1028
-
-
Alimohammadi, M.1
Bjorklund, P.2
Hallgren, A.3
Pontynen, N.4
Szinnai, G.5
Shikama, N.6
Keller, M.P.7
Ekwall, O.8
Kinkel, S.A.9
Husebye, E.S.10
Gustafsson, J.11
Rorsman, F.12
Peltonen, L.13
Betterle, C.14
Perheentupa, J.15
Akerstrom, G.16
Westin, G.17
Scott, H.S.18
Hollander, G.A.19
Kampe, O.20
more..
-
34
-
-
10744233772
-
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I
-
Soderbergh 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, Kampe O, Nilsson T. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2004;89(2):557-562
-
(2004)
J Clin Endocrinol Metab
, vol.89
, Issue.2
, pp. 557-562
-
-
Soderbergh, 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
Kampe, O.17
Nilsson, T.18
-
35
-
-
0032566209
-
Identification of tryptophan hydroxylase as an intestinal autoantigen
-
DOI 10.1016/S0140-6736(97)11050-9
-
Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, Husebye E, Kampe O, Rorsman F. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998;352(9124):279-283 (Pubitemid 28340146)
-
(1998)
Lancet
, vol.352
, Issue.9124
, pp. 279-283
-
-
Ekwall, O.1
Hedstrand, H.2
Grimelius, L.3
Haavik, J.4
Perheentupa, J.5
Gustafsson, J.6
Husebye, E.7
Kampe, O.8
Rorsman, F.9
-
36
-
-
0344931627
-
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1
-
Ekwall O, Sjoberg K, Mirakian R, Rorsman F, Kampe O. Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. Lancet 1999;354(9178):568
-
(1999)
Lancet
, vol.354
, Issue.9178
, pp. 568
-
-
Ekwall, O.1
Sjoberg, K.2
Mirakian, R.3
Rorsman, F.4
Kampe, O.5
-
37
-
-
0030837075
-
Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I
-
DOI 10.1016/S0014-5793(97)00797-7, PII S0014579397007977
-
Gebre-Medhin G, Husebye ES, Gustafsson J, Winqvist O, Goksoyr A, Rorsman F, Kampe O. Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I. FEBS Lett 1997;412(3):439-445 (Pubitemid 27337086)
-
(1997)
FEBS Letters
, vol.412
, Issue.3
, pp. 439-445
-
-
Gebre-Medhin, G.1
Husebye, E.S.2
Gustafsson, J.3
Winqvist, O.4
Goksoyr, A.5
Rorsman, F.6
Kampe, O.7
-
38
-
-
0031033052
-
Autoantibodies against, aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
-
DOI 10.1210/jc.82.1.147
-
Husebye ES, Gebre-Medhin G, Tuomi T, Perheentupa J, Landin-Olsson M, Gustafsson J, Rorsman F, Kampe O. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 1997;82(1):147-150 (Pubitemid 27021286)
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, Issue.1
, pp. 147-150
-
-
Husebye, E.S.1
Gebre-Medhin, G.2
Tuomi, T.3
Perheentupa, J.4
Landin-Olsson, M.5
Gustafsson, J.6
Rorsman, F.7
Kampe, O.8
-
39
-
-
0034614519
-
Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I
-
DOI 10.1006/bbrc.1999.1945
-
Hedstrand H, Ekwall O, Haavik J, Landgren E, Betterle C, Perheentupa J, Gustafsson J, Husebye E, Rorsman F, Kampe O. Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. Biochem Biophys Res Commun 2000;267(1):456-461 (Pubitemid 30072573)
-
(2000)
Biochemical and Biophysical Research Communications
, vol.267
, Issue.1
, pp. 456-461
-
-
Hedstrand, H.1
Ekwall, O.2
Haavik, J.3
Landgren, E.4
Betterle, C.5
Perheentupa, J.6
Gustafsson, J.7
Husebye, E.8
Rorsman, F.9
Kampe, O.10
-
40
-
-
78649994751
-
Evaluation of the AIRE gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives
-
Oxf
-
Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C. Evaluation of the AIRE gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clin Endocrinol (Oxf) 2008
-
(2008)
Clin Endocrinol
-
-
Cervato, S.1
Mariniello, B.2
Lazzarotto, F.3
Morlin, L.4
Zanchetta, R.5
Radetti, G.6
De Luca, F.7
Valenzise, M.8
Giordano, R.9
Rizzo, D.10
Giordano, C.11
Betterle, C.12
-
41
-
-
23844507752
-
Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
-
Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T. Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. J Clin Endocrinol Metab 2005;90(8):4930-4935
-
(2005)
J Clin Endocrinol Metab
, vol.90
, Issue.8
, pp. 4930-4935
-
-
Podkrajsek, K.T.1
Bratanic, N.2
Krzisnik, C.3
Battelino, T.4
-
42
-
-
18444378139
-
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype
-
Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 2002;87(6):2568-2574
-
(2002)
J Clin Endocrinol Metab
, vol.87
, Issue.6
, pp. 2568-2574
-
-
Halonen, M.1
Eskelin, P.2
Myhre, A.G.3
Perheentupa, J.4
Husebye, E.S.5
Kampe, O.6
Rorsman, F.7
Peltonen, L.8
Ulmanen, I.9
Partanen, J.10
-
43
-
-
0034861436
-
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
-
DOI 10.1002/humu.1178
-
Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halasz Z, Blumet P, Tawfik S, Krohn K, Lebl J, Peterson P. Novel AIRE mutations and P450 cytochrome autoantibodies in central and eastern european patients with APECED. Hum Mutat 2001;18(3):225-232 (Pubitemid 32807901)
-
(2001)
Human Mutation
, vol.18
, Issue.3
, pp. 225-232
-
-
Cihakova, D.1
Trebusak, K.2
Heino, M.3
Fadeyev, V.4
Tiulpakov, A.5
Battelino, T.6
Tar, A.7
Halsz, Z.8
Blmel, P.9
Tawfik, S.10
Krohn, K.11
Lebl, J.12
Peterson, P.13
-
44
-
-
0034869235
-
APECED mutations in the autoimmune regulator (AIRE) gene
-
Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K. APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 2001;18(3):205-211
-
(2001)
Hum Mutat
, vol.18
, Issue.3
, pp. 205-211
-
-
Heino, M.1
Peterson, P.2
Kudoh, J.3
Shimizu, N.4
Antonarakis, S.E.5
Scott, H.S.6
Krohn, K.7
-
45
-
-
0242536432
-
Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy protein
-
Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Eltonen 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. Am J Hum Genet 2000;66(2):378-392
-
(2000)
Am J Hum Genet
, vol.66
, Issue.2
, pp. 378-392
-
-
Bjorses, P.1
Halonen, M.2
Palvimo, J.J.3
Kolmer, M.4
Aaltonen, J.5
Eltonen, P.6
Perheentupa, J.7
Ulmanen, I.8
Peltonen, L.9
-
46
-
-
0032902386
-
Mutation analyses of North American APS-1 patients
-
Heino M, Scott HS, Chen Q, Peterson P, Maebpaa U, Papasawas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K. Mutation analyses of North American APS-1 patients. Hum Mutat 1999;13(1):69-74
-
(1999)
Hum Mutat
, vol.13
, Issue.1
, pp. 69-74
-
-
Heino, M.1
Scott, H.S.2
Chen, Q.3
Peterson, P.4
Maebpaa, U.5
Papasawas, M.P.6
Mittaz, L.7
Barras, C.8
Rossier, C.9
Chrousos, G.P.10
Stratakis, C.A.11
Nagamine, K.12
Kudoh, J.13
Shimizu, N.14
Maclaren, N.15
Antonarakis, S.E.16
Krohn, K.17
-
47
-
-
0032470812
-
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
-
DOI 10.1086/302145
-
Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in british kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998;63(6):1675-1684 (Pubitemid 30415730)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.6
, pp. 1675-1684
-
-
Pearce, S.H.S.1
Cheetham, T.2
Imrie, H.3
Vaidya, B.4
Barnes, N.D.5
Bilous, R.W.6
Carr, D.7
Meeran, K.8
Shaw, N.J.9
Smith, C.S.10
Toft, A.D.11
Williams, G.12
Kendall-Taylor, P.13
-
49
-
-
0034749749
-
A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis
-
Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J Clin Endocrinol Metab 2001;86(10):4747-4752
-
(2001)
J Clin Endocrinol Metab
, vol.86
, Issue.10
, pp. 4747-4752
-
-
Cetani, F.1
Barbesino, G.2
Borsari, S.3
Pardi, E.4
Cianferotti, L.5
Pinchera, A.6
Marcocci, C.7
-
50
-
-
25444446105
-
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation
-
DOI 10.1002/humu.20224
-
Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Hum Mutat 2005;26(4):322-331 (Pubitemid 41361800)
-
(2005)
Human Mutation
, vol.26
, Issue.4
, pp. 322-331
-
-
Ilmarinen, T.1
Eskelin, P.2
Halonen, M.3
Ruppell, T.4
Kilpikari, R.5
Torres, G.D.6
Kangas, H.7
Ulmanen, I.8
-
51
-
-
33646591901
-
Dermatological manifestations of autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy syndrome
-
Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy syndrome. Br J Dermatol 2006;154(6):1088-1093
-
(2006)
Br J Dermatol
, vol.154
, Issue.6
, pp. 1088-1093
-
-
Collins, S.M.1
Dominguez, M.2
Ilmarinen, T.3
Costigan, C.4
Irvine, A.D.5
-
52
-
-
55449099361
-
Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED
-
Ryan KR, Hong M, Arkwright PD, Gennery AR, Costigan C, Dominguez M, Denning D, McConnell V, Cant AJ, Abinun M, Spickett GP, Lilic D. Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED. Clin Exp Immunol 2008;154(3):406-414
-
(2008)
Clin Exp Immunol
, vol.154
, Issue.3
, pp. 406-414
-
-
Ryan, K.R.1
Hong, M.2
Arkwright, P.D.3
Gennery, A.R.4
Costigan, C.5
Dominguez, M.6
Denning, D.7
McConnell, V.8
Cant, A.J.9
Abinun, M.10
Spickett, G.P.11
Lilic, D.12
-
53
-
-
34249805682
-
Oral and oesophageal squamous cell carcinoma - A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)
-
Rautemaa R, Hietanen J, Niissalo S, Pinnen S, Perheentupa J. Oral and oesophageal squamous cell carcinoma - a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I). Oral Oncol 2007;43(6):607-613
-
(2007)
Oral Oncol
, vol.43
, Issue.6
, pp. 607-613
-
-
Rautemaa, R.1
Hietanen, J.2
Niissalo, S.3
Pinnen, S.4
Perheentupa, J.5
-
54
-
-
58149316653
-
Chronic candidosis and oral cancer in APECED-patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans
-
Uittamo J, Siikala E, Kaihovaara P, Salaspuro M, Rautemaa R. Chronic candidosis and oral cancer in APECED-patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans. Int J Cancer 2009;124(3):754-756
-
(2009)
Int J Cancer
, vol.124
, Issue.3
, pp. 754-756
-
-
Uittamo, J.1
Siikala, E.2
Kaihovaara, P.3
Salaspuro, M.4
Rautemaa, R.5
-
55
-
-
34548728515
-
Decreased susceptibility of Candida albicans to azole antifungals: A complication of long-term treatment in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) patients
-
Rautemaa R, Richardson M, Pfaller M, Koukita-Kahkota P, Perheentupa J, Saxen H. Decreased susceptibility of Candida albicans to azole antifungals: a complication of long-term treatment in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) patients. J Antimicrob Chemother 2007;60(4):889-892
-
(2007)
J Antimicrob Chemother
, vol.60
, Issue.4
, pp. 889-892
-
-
Rautemaa, R.1
Richardson, M.2
Pfaller, M.3
Koukita-Kahkota, P.4
Perheentupa, J.5
Saxen, H.6
-
56
-
-
57049101467
-
Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole
-
Rautemaa R, Richardson M, Pfaller M, Perheentupa J, Saxen H. Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole. Scand J Infect Dis 2008;40(11-12):904-907
-
(2008)
Scand J Infect Dis
, vol.40
, Issue.11-12
, pp. 904-907
-
-
Rautemaa, R.1
Richardson, M.2
Pfaller, M.3
Perheentupa, J.4
Saxen, H.5
-
57
-
-
51649120783
-
Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis
-
Rautemaa R, Richardson M, Pfaller MA, Perheentupa J, Saxen H. Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis. Diagn Microbiol Infect Dis 2008;62(2):182-185
-
(2008)
Diagn Microbiol Infect Dis
, vol.62
, Issue.2
, pp. 182-185
-
-
Rautemaa, R.1
Richardson, M.2
Pfaller, M.A.3
Perheentupa, J.4
Saxen, H.5
-
58
-
-
47949092540
-
Clinical practice. hypoparathyroidism
-
Shoback D. Clinical practice. hypoparathyroidism. N Engl J Med 2008;359(4):391-403
-
(2008)
N Engl J Med
, vol.359
, Issue.4
, pp. 391-403
-
-
Shoback, D.1
-
59
-
-
0034700450
-
Hyperparathyroid and hypoparathyroid disorders
-
Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000;343(25):1863-1875
-
(2000)
N Engl J Med
, vol.343
, Issue.25
, pp. 1863-1875
-
-
Marx, S.J.1
-
60
-
-
0029798867
-
Synthetic human parathyroid hormone 1-34 vs calcitriol and calcium in the treatment of hypoparathyroidism
-
Winer KK, Yanovski JA, Cutler GB, Jr. Synthetic human parathyroid hormone 1-34 vs calcitriol and calcium in the treatment of hypoparathyroidism. JAMA 1996;276(8):631-636
-
(1996)
JAMA
, vol.276
, Issue.8
, pp. 631-636
-
-
Winer, K.K.1
Yanovski, J.A.2
Cutler Jr., G.B.3
-
61
-
-
0031773242
-
A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism
-
DOI 10.1210/jc.83.10.3480
-
Winer KK, Yanovski JA, Sarani B, Cutler GB,Jr. A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism. J Clin Endocrinol Metab 1998;83(10):3480-3486 (Pubitemid 28500875)
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, vol.83
, Issue.10
, pp. 3480-3486
-
-
Winer, K.K.1
Yanovski, J.A.2
Sarani, B.3
Cutler Jr., G.B.4
-
62
-
-
0034830270
-
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34
-
Koch CA. Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. Exp Clin Endocrinol Diabetes 2001;109(6):350-354
-
(2001)
Exp Clin Endocrinol Diabetes
, vol.109
, Issue.6
, pp. 350-354
-
-
Koch, C.A.1
-
63
-
-
0141564588
-
Long-term treatment of hypoparathyroidism: A randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium
-
Winer KK, Ko CW, Reynolds JC, Dowdy K, Keil M, Peterson D, Gerber LH, McGarvey C, Cutler GB,Jr. Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium. J Clin Endocrinol Metab 2003;88(9):4214-4220
-
(2003)
J Clin Endocrinol Metab
, vol.88
, Issue.9
, pp. 4214-4220
-
-
Winer, K.K.1
Ko, C.W.2
Reynolds, J.C.3
Dowdy, K.4
Keil, M.5
Peterson, D.6
Gerber, L.H.7
McGarvey, C.8
Cutler Jr., G.B.9
-
64
-
-
36048988750
-
Development of PTH Eluting Microspheres for the Treatment of Hypoparathyroidism
-
DOI 10.1016/j.jss.2006.04.009, PII S0022480406001818
-
Fong P, Goyal A, Brennan M, Park J, Moss L, Saltzman WM, Breuer CK. Development of PTH eluting microspheres for the treatment of hypoparathyroidism. J Surg Res 2007;143(2):195-199 (Pubitemid 350101554)
-
(2007)
Journal of Surgical Research
, vol.143
, Issue.2
, pp. 195-199
-
-
Fong, P.1
Goyal, A.2
Brennan, M.3
Park, J.4
Moss, L.5
Saltzman, W.M.6
Breuer, C.K.7
-
65
-
-
51649100312
-
Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism
-
Winer KK, Sinaii N, Peterson D, Sainz B,Jr, Cutler GB,Jr. Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism. J Clin Endocrinol Metab 2008;93(9):3389-3395
-
(2008)
J Clin Endocrinol Metab
, vol.93
, Issue.9
, pp. 3389-3395
-
-
Winer, K.K.1
Sinaii, N.2
Peterson, D.3
Sainz Jr., B.4
Cutler Jr., G.B.5
-
66
-
-
84995870568
-
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease
-
Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn KJ. Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab 1994;78(2):323-328
-
(1994)
J Clin Endocrinol Metab
, vol.78
, Issue.2
, pp. 323-328
-
-
Uibo, R.1
Aavik, E.2
Peterson, P.3
Perheentupa, J.4
Aranko, S.5
Pelkonen, R.6
Krohn, K.J.7
-
67
-
-
0029881354
-
Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, addison's disease, and premature ovarian failure
-
Chen S, Sawicka J, Betterle C, Powell M, Prentice L, Volpato M, Rees Smith B, Furmaniak J. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, addison's disease, and premature ovarian failure. J Clin Endocrinol Metab 1996;81(5):1871-1876
-
(1996)
J Clin Endocrinol Metab
, vol.81
, Issue.5
, pp. 1871-1876
-
-
Chen, S.1
Sawicka, J.2
Betterle, C.3
Powell, M.4
Prentice, L.5
Volpato, M.6
Rees Smith, B.7
Furmaniak, J.8
-
68
-
-
0023138282
-
Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure
-
Ahonen P, Miettinen A, Perheentupa J. Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure. J Clin Endocrinol Metab 1987;64(3):494-500
-
(1987)
J Clin Endocrinol Metab
, vol.64
, Issue.3
, pp. 494-500
-
-
Ahonen, P.1
Miettinen, A.2
Perheentupa, J.3
-
69
-
-
0021056840
-
The diagnosis and staging of hypocortisolism in progressing autoimmune adrenalitis
-
Leisti S, Ahonen P, Perheentupa J. The diagnosis and staging of hypocortisolism in progressing autoimmune adrenalitis. Pediatr Res 1983;17(11):861-867 (Pubitemid 14231111)
-
(1983)
Pediatric Research
, vol.17
, Issue.11
, pp. 861-867
-
-
Leisti, S.1
Ahonen, P.2
Perheentupa, J.3
-
70
-
-
29644439025
-
Characterization of the humoral immune response to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) and/or type 1 diabetes
-
Ronkainen MS, Harkonen T, Perheentupa J, Knip M. Characterization of the humoral immune response to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and/or type 1 diabetes. Eur J Endocrinol 2005;153(6):901-906
-
(2005)
Eur J Endocrinol
, vol.153
, Issue.6
, pp. 901-906
-
-
Ronkainen, M.S.1
Harkonen, T.2
Perheentupa, J.3
Knip, M.4
-
71
-
-
0029988330
-
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I
-
DOI 10.1210/jc.81.4.1488
-
Tuomi T, Bjorses P, Falorni A, Partanen J, Perheentupa J, Lernmark A, Miettinen A. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 1996;81(4):1488-1494 (Pubitemid 26118581)
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, Issue.4
, pp. 1488-1494
-
-
Tuomi, T.1
Bjorses, P.2
Falorni, A.3
Partanen, J.4
Perheentupa, J.5
Lernmark, A.6
Miettinen, A.7
-
72
-
-
0034351867
-
Ss-Cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
DOI 10.1210/jc.85.12.4434
-
Gylling M, Tuomi T, Bjorses P, Kontiainen S, Partanen J, Christie MR, Knip M, Perheentupa J, Miettinen A. Ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2000;85(12):4434-4440 (Pubitemid 32157614)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.12
, pp. 4434-4440
-
-
Gylling, M.1
Tuomi, T.2
Bjorses, P.3
Kontiainen, S.4
Partanen, J.5
Christie, M.R.6
Knip, M.7
Perheentupa, J.8
Miettinen, A.9
-
73
-
-
0033772333
-
Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
-
Perniola R, Falorni A, Clemente MG, Forini F, Accogli E, Lobreglio G. Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Eur J Endocrinol 2000;143(4):497-503
-
(2000)
Eur J Endocrinol
, vol.143
, Issue.4
, pp. 497-503
-
-
Perniola, R.1
Falorni, A.2
Clemente, M.G.3
Forini, F.4
Accogli, E.5
Lobreglio, G.6
-
74
-
-
0034252936
-
Growth hormone deficiency in autoimmune polyglandular disease type 1
-
Al-Herbish AS, Bailey JD, Kooh SW. Growth hormone deficiency in autoimmune polyglandular disease type 1. Saudi Med J 2000;21(8):765-768
-
(2000)
Saudi Med J
, vol.21
, Issue.8
, pp. 765-768
-
-
Al-Herbish, A.S.1
Bailey, J.D.2
Kooh, S.W.3
-
75
-
-
0033041495
-
Growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Franzese A, Valerio G, Di Maio S, Iannucci MP, Bloise A, Tenore A. Growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. J Endocrinol Invest 1999;22(1):66-69 (Pubitemid 29095017)
-
(1999)
Journal of Endocrinological Investigation
, vol.22
, Issue.1
, pp. 66-69
-
-
Franzese, A.1
Valerio, G.2
Di Maio, S.3
Iannucci, M.P.4
Bloise, A.5
Tenore, A.6
-
76
-
-
0033368523
-
Growth hormone deficiency in APECED
-
Faustini-Fustini M. Growth hormone deficiency in APECED. J Endocrinol Invest 1999;22(11):886
-
(1999)
J Endocrinol Invest
, vol.22
, Issue.11
, pp. 886
-
-
Faustini-Fustini, M.1
-
77
-
-
0034906534
-
Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty
-
Cemeroglu AP, Bober E, Dundar B, Buyukgebiz A. Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty. J Pediatr Endocrinol Metab 2001;14(7):909-914
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, Issue.7
, pp. 909-914
-
-
Cemeroglu, A.P.1
Bober, E.2
Dundar, B.3
Buyukgebiz, A.4
-
78
-
-
0032843729
-
Lymphocytic hypophysitis. A review of 145 cases
-
Paris
-
Beressi N, Beressi JP, Cohen R, Modigliani E. Lymphocytic hypophysitis. A review of 145 cases. Ann Med Interne (Paris) 1999;150(4):327-341
-
(1999)
Ann Med Interne
, vol.150
, Issue.4
, pp. 327-341
-
-
Beressi, N.1
Beressi, J.P.2
Cohen, R.3
Modigliani, E.4
-
79
-
-
0032988183
-
Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy
-
Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, Delvin E, Kampe O, Deal C. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy. J Clin Endocrinol Metab 1999;84(3):844-852
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.3
, pp. 844-852
-
-
Ward, L.1
Paquette, J.2
Seidman, E.3
Huot, C.4
Alvarez, F.5
Crock, P.6
Delvin, E.7
Kampe, O.8
Deal, C.9
-
80
-
-
33846528700
-
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
-
Bensing S, Fetissov SO, Mulder J, Perheentupa J, Gustafsson J, Husebye ES, Oscarson M, Ekwall O, Crock PA, Hokfelt T, Hulting AL, Kampe O. Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. Proc Natl Acad Sci U S A 2007;104(3):949-954
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, Issue.3
, pp. 949-954
-
-
Bensing, S.1
Fetissov, S.O.2
Mulder, J.3
Perheentupa, J.4
Gustafsson, J.5
Husebye, E.S.6
Oscarson, M.7
Ekwall, O.8
Crock, P.A.9
Hokfelt, T.10
Hulting, A.L.11
Kampe, O.12
-
81
-
-
59649105992
-
Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems
-
Fetissov SO, Bensing S, Mulder J, Le Maitre E, Hulting AL, Harkany T, Ekwall O, Skoldberg F, Husebye ES, Perheentupa J, Rorsman F, Kampe O, Hokfelt T. Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems. J Comp Neurol 2009;513(1):1-20
-
(2009)
J Comp Neurol
, vol.513
, Issue.1
, pp. 1-20
-
-
Fetissov, S.O.1
Bensing, S.2
Mulder, J.3
Le Maitre, E.4
Hulting, A.L.5
Harkany, T.6
Ekwall, O.7
Skoldberg, F.8
Husebye, E.S.9
Perheentupa, J.10
Rorsman, F.11
Kampe, O.12
Hokfelt, T.13
-
82
-
-
0036252109
-
Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1
-
Smith D, Stringer MD, Wyatt J, O'Meara M, Davison S, Cheetham TD, McClean P. Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatr Transplant 2002;6(2):166-170
-
(2002)
Pediatr Transplant
, vol.6
, Issue.2
, pp. 166-170
-
-
Smith, D.1
Stringer, M.D.2
Wyatt, J.3
O'Meara, M.4
Davison, S.5
Cheetham, T.D.6
McClean, P.7
-
83
-
-
0028347533
-
Chronic active hepatitis in the type I polyglandular autoimmune syndrome
-
Michele TM, Fleckenstein J, Sgrignoli AR, Thuluvath PJ. Chronic active hepatitis in the type I polyglandular autoimmune syndrome. Postgrad Med J 1994;70(820):128-131 (Pubitemid 24074636)
-
(1994)
Postgraduate Medical Journal
, vol.70
, Issue.820
, pp. 128-131
-
-
Michele, T.M.1
Fleckenstein, J.2
Sgrignoli, A.R.3
Thuluvath, P.J.4
-
84
-
-
0029781657
-
Liver disease in polyglandular autoimmune disease type one: Clinicopathologic study of three patients and review of the literature
-
DOI 10.1080/107710496175552
-
Goldstein NS, Rosenthal P, Sinatra F, Dehner LP. Liver disease in polyglandular autoimmune disease type one: Clinicopathologic study of three patients and review of the literature. Pediatr Pathol Lab Med 1996;16(4):625-636 (Pubitemid 26268693)
-
(1996)
Pediatric Pathology and Laboratory Medicine
, vol.16
, Issue.4
, pp. 625-636
-
-
Goldstein, N.S.1
Rosenthal, P.2
Sinatra, F.3
Dehner, L.P.4
-
85
-
-
0034823985
-
Hepatic autoantigens in patients with autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy
-
Obermayer-Straub P, Perheentupa J, Braun S, Kayser A, Barut A, Loges S, Harms A, Dalekos, Strassburg CP, Manns MP. Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Gastroenterology 2001;121(3):668-677
-
(2001)
Gastroenterology
, vol.121
, Issue.3
, pp. 668-677
-
-
Obermayer-Straub, P.1
Perheentupa, J.2
Braun, S.3
Kayser, A.4
Barut, A.5
Loges, S.6
Harms, A.7
Dalekos Strassburg, C.P.8
Manns, M.P.9
-
86
-
-
0030919380
-
Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1
-
Clemente MG, Obermayer-Straub P, Meloni A, Strassburg CP, Arangino V, Tukey RH, De Virgiliis S, Manns MP. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1997;82(5):1353-1361
-
(1997)
J Clin Endocrinol Metab
, vol.82
, Issue.5
, pp. 1353-1361
-
-
Clemente, M.G.1
Obermayer-Straub, P.2
Meloni, A.3
Strassburg, C.P.4
Arangino, V.5
Tukey, R.H.6
De Virgiliis, S.7
Manns, M.P.8
-
87
-
-
0141869674
-
Cyclosporine nephrotoxicity
-
Burdmann EA, Andoh TF, Yu L, Bennett WM. Cyclosporine nephrotoxicity. Semin Nephrol 2003;23(5):465-476
-
(2003)
Semin Nephrol
, vol.23
, Issue.5
, pp. 465-476
-
-
Burdmann, E.A.1
Andoh, T.F.2
Yu, L.3
Bennett, W.M.4
-
88
-
-
0025940829
-
Autoimmune polyendocrine candidiasis syndrome with associated chronic diarrhea caused by intestinal infection and pancreas insufficiency
-
Scire G, Magliocca FM, Cianfarani S, Scalamandre A, Petrozza V, Bonamico M. Autoimmune polyendocrine candidiasis syndrome with associated chronic diarrhea caused by intestinal infection and pancreas insufficiency. J Pediatr Gastroenterol Nutr 1991;13(2):224-227
-
(1991)
J Pediatr Gastroenterol Nutr
, vol.13
, Issue.2
, pp. 224-227
-
-
Scire, G.1
Magliocca, F.M.2
Cianfarani, S.3
Scalamandre, A.4
Petrozza, V.5
Bonamico, M.6
-
89
-
-
2942752294
-
A patient with a polyglandular autoimmune syndrome involving the salivary glands, thyroid, intestine, and pancreas
-
Buchman AL, Rao SM. A patient with a polyglandular autoimmune syndrome involving the salivary glands, thyroid, intestine, and pancreas. Dig Dis Sci 2004;49(4):590-593
-
(2004)
Dig Dis Sci
, vol.49
, Issue.4
, pp. 590-593
-
-
Buchman, A.L.1
Rao, S.M.2
-
90
-
-
0028962635
-
Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea
-
Bereket A, Lowenheim M, Blethen SL, Kane P, Wilson TA. Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea. J Clin Endocrinol Metab 1995;80(3):933-935
-
(1995)
J Clin Endocrinol Metab
, vol.80
, Issue.3
, pp. 933-935
-
-
Bereket, A.1
Lowenheim, M.2
Blethen, S.L.3
Kane, P.4
Wilson, T.A.5
-
91
-
-
43049096047
-
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: A report of 2 cases
-
Makharia GK, Tandon N, Stephen Nde J, Gupta SD, Tandon RK. Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. Indian J Gastroenterol 2007;26(6):293-295 (Pubitemid 351629635)
-
(2007)
Indian Journal of Gastroenterology
, vol.26
, Issue.6
, pp. 293-295
-
-
Makharia, G.K.1
Tandon, N.2
Stephen, N.D.J.R.3
Gupta, S.D.4
Tandon, R.K.5
-
92
-
-
0030841659
-
Severe malabsorption in autoimmune polyendocrinopathy-candidosis- Ectodermal dystrophy syndrome successfully treated with immunosuppression
-
Padeh S, Theodor R, Jonas A, Passwell JH. Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression. Arch Dis Child 1997;76(6):532-534 (Pubitemid 27334725)
-
(1997)
Archives of Disease in Childhood
, vol.76
, Issue.6
, pp. 532-534
-
-
Padeh, S.1
Theodor, R.2
Jonas, A.3
Passwell, J.H.4
-
93
-
-
57249097253
-
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
-
Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 2008;122(6):1105-1112
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.6
, pp. 1105-1112
-
-
Gambineri, E.1
Perroni, L.2
Passerini, L.3
Bianchi, L.4
Doglioni, C.5
Meschi, F.6
Bonfanti, R.7
Sznajer, Y.8
Tommasini, A.9
Lawitschka, A.10
Junker, A.11
Dunstheimer, D.12
Heidemann, P.H.13
Cazzola, G.14
Cipolli, M.15
Friedrich, W.16
Janic, D.17
Azzi, N.18
Richmond, E.19
Vignola, S.20
Barabino, A.21
Chiumello, G.22
Azzari, C.23
Roncarolo, M.G.24
Bacchetta, R.25
more..
-
94
-
-
26444555981
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation
-
Tawfik S, Azim MA, Peterson P, Donaldson MD. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation. Horm Res 2005;64(2):96-99
-
(2005)
Horm Res
, vol.64
, Issue.2
, pp. 96-99
-
-
Tawfik, S.1
Azim, M.A.2
Peterson, P.3
Donaldson, M.D.4
-
95
-
-
0033833151
-
Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis- ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis
-
Merenmies L, Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand 2000;78(5):532-535
-
(2000)
Acta Ophthalmol Scand
, vol.78
, Issue.5
, pp. 532-535
-
-
Merenmies, L.1
Tarkkanen, A.2
-
96
-
-
0035096545
-
Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
-
Tarkkanen A, Merenmies L. Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand 2001;79(2):204-207
-
(2001)
Acta Ophthalmol Scand
, vol.79
, Issue.2
, pp. 204-207
-
-
Tarkkanen, A.1
Merenmies, L.2
-
97
-
-
34547458622
-
Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: Case report and historical literature review
-
Shah M, Holland E, Chan CC. Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: case report and historical literature review. Cornea 2007;26(5):632-635
-
(2007)
Cornea
, vol.26
, Issue.5
, pp. 632-635
-
-
Shah, M.1
Holland, E.2
Chan, C.C.3
-
98
-
-
0033384981
-
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I
-
DOI 10.1046/j.1523-1747.1999.00778.x
-
Hedstrand H, Perheentupa J, Ekwall O, Gustafsson J, Michaelsson G, Husebye E, Rorsman F, Kampe O. Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. J Invest Dermatol 1999;113(6):1054-1058 (Pubitemid 30013352)
-
(1999)
Journal of Investigative Dermatology
, vol.113
, Issue.6
, pp. 1054-1058
-
-
Hedstrand, H.1
Perheentupa, J.2
Ekwall, O.3
Gustafsson, J.4
Michaelsson, G.5
Husebye, E.6
Rorsman, F.7
Kampe, O.8
-
99
-
-
0018191896
-
Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism
-
DOI 10.1016/0030-4220(78)90147-0
-
Myllarniemi S, Perheentupa J. Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism. Oral Surg Oral Med Oral Pathol 1978;45(5):721-729 (Pubitemid 8344425)
-
(1978)
Oral Surgery Oral Medicine and Oral Pathology
, vol.45
, Issue.5
, pp. 721-729
-
-
Myllarniemi, S.1
Perheentupa, J.2
-
100
-
-
0032126065
-
Assessment of enamel hypoplasia in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED)
-
Perniola R, Tamborrino G, Marsigliante S, De Rinaldis C. Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J Oral Pathol Med 1998;27(6):278-282
-
(1998)
J Oral Pathol Med
, vol.27
, Issue.6
, pp. 278-282
-
-
Perniola, R.1
Tamborrino, G.2
Marsigliante, S.3
De Rinaldis, C.4
-
101
-
-
65849346378
-
Oral health in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
-
McGovern E, Fleming P, Costigan C, Dominguez M, Coleman DC, Nunn J. Oral health in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Eur Arch Paediatr Dent 2008;9(4):236-244
-
(2008)
Eur Arch Paediatr Dent
, vol.9
, Issue.4
, pp. 236-244
-
-
McGovern, E.1
Fleming, P.2
Costigan, C.3
Dominguez, M.4
Coleman, D.C.5
Nunn, J.6
-
102
-
-
0035052924
-
Natural history of asplenism in APECED-patient report
-
Starzyk J, Kumorowicz-Kopiec M, Kowalczyk M, Starzyk B, Rybakowa M, Dziatkowiak H. Natural history of asplenism in APECED-patient report. J Pediatr Endocrinot Metab 2001;14(4):443-449
-
(2001)
J Pediatr Endocrinot Metab
, vol.14
, Issue.4
, pp. 443-449
-
-
Starzyk, J.1
Kumorowicz-Kopiec, M.2
Kowalczyk, M.3
Starzyk, B.4
Rybakowa, M.5
Dziatkowiak, H.6
-
103
-
-
30344444284
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: Impact of posttransplant immunosuppression on disease activity
-
Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, Chabbert-Buffet N, Bensman A, Deschenes G, Giurgea I. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab 2006;91(1):192-195
-
(2006)
J Clin Endocrinol Metab
, vol.91
, Issue.1
, pp. 192-195
-
-
Ulinski, T.1
Perrin, L.2
Morris, M.3
Houang, M.4
Cabrol, S.5
Grapin, C.6
Chabbert-Buffet, N.7
Bensman, A.8
Deschenes, G.9
Giurgea, I.10
-
104
-
-
33645967778
-
Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): Findings in 25 adults
-
Oxf
-
Makitie O, Sochett EB, Bondestam S, Sipila I, Perheentupa J. Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults. Clin Endocrinol (Oxf) 2006;64(5):489-494
-
(2006)
Clin Endocrinol
, vol.64
, Issue.5
, pp. 489-494
-
-
Makitie, O.1
Sochett, E.B.2
Bondestam, S.3
Sipila, I.4
Perheentupa, J.5
-
105
-
-
0242351857
-
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: Clinical and molecular studies
-
Harris M, Kecha O, Deal C, Howlett CR, Deiss D, Tobias V, Simoneau-Roy J, Walker J. Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. J Clin Endocrinol Metab 2003;88(10):4576-4585
-
(2003)
J Clin Endocrinol Metab
, vol.88
, Issue.10
, pp. 4576-4585
-
-
Harris, M.1
Kecha, O.2
Deal, C.3
Howlett, C.R.4
Deiss, D.5
Tobias, V.6
Simoneau-Roy, J.7
Walker, J.8
-
106
-
-
56749169403
-
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1
-
Podkrajsek KT, Milenkovic T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T. Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur J Endocrinol 2008;159(5):633-639
-
(2008)
Eur J Endocrinol
, vol.159
, Issue.5
, pp. 633-639
-
-
Podkrajsek, K.T.1
Milenkovic, T.2
Odink, R.J.3
Claasen-van Der Grinten, H.L.4
Bratanic, N.5
Hovnik, T.6
Battelino, T.7
-
107
-
-
63149126091
-
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
-
Alimohammadi M, Dubois N, Skoldberg F, Hallgren A, Tardivel I, Hedstrand H, Haavik J, Husebye ES, Gustafsson J, Rorsman F, Meloni A, Janson C, Vialettes B, Kajosaari M, Egner W, Sargur R, Ponten F, Amoura Z, Grimfeld A, De Luca F, Betterle C, Perheentupa J, Kampe O, Carel JC. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proc Natl Acad Sci U S A 2009;106(11):4396-4401
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.11
, pp. 4396-4401
-
-
Alimohammadi, M.1
Dubois, N.2
Skoldberg, F.3
Hallgren, A.4
Tardivel, I.5
Hedstrand, H.6
Haavik, J.7
Husebye, E.S.8
Gustafsson, J.9
Rorsman, F.10
Meloni, A.11
Janson, C.12
Vialettes, B.13
Kajosaari, M.14
Egner, W.15
Sargur, R.16
Ponten, F.17
Amoura, Z.18
Grimfeld, A.19
De Luca, F.20
Betterle, C.21
Perheentupa, J.22
Kampe, O.23
Carel, J.C.24
more..
-
108
-
-
0141997136
-
Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome
-
Korniszewski L, Kurzyna M, Stolarski B, Torbicki A, Smerdel A, Ploski R. Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome. Eur Respir J 2003;22(4):709-711
-
(2003)
Eur Respir J
, vol.22
, Issue.4
, pp. 709-711
-
-
Korniszewski, L.1
Kurzyna, M.2
Stolarski, B.3
Torbicki, A.4
Smerdel, A.5
Ploski, R.6
-
109
-
-
0036962339
-
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: Case report and review of the literature in Japan
-
DOI 10.1507/endocrj.49.625
-
Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Endocr J 2002;49(6):625-633 (Pubitemid 36119582)
-
(2002)
Endocrine Journal
, vol.49
, Issue.6
, pp. 625-633
-
-
Sato, K.1
Nakajima, K.2
Imamura, H.3
Deguchi, T.4
Horinouchi, S.5
Yamazaki, K.6
Yamada, E.7
Kanaji, Y.8
Takano, K.9
-
110
-
-
58149089555
-
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy
-
Valenzise M, Meloni A, Betterle C, Giometto B, Autunno M, Mazzeo A, Cao A, De Luca F. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr 2009;168(2):237-240
-
(2009)
Eur J Pediatr
, vol.168
, Issue.2
, pp. 237-240
-
-
Valenzise, M.1
Meloni, A.2
Betterle, C.3
Giometto, B.4
Autunno, M.5
Mazzeo, A.6
Cao, A.7
De Luca, F.8
-
111
-
-
49649114637
-
Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE
-
Oxf
-
Capalbo D, Elefante A, Spagnuolo Ml, Mazza C, Betterle C, Pignata C, Salerno M. Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE. Clin Endocrinol (Oxf) 2008;69(3):511-513
-
(2008)
Clin Endocrinol
, vol.69
, Issue.3
, pp. 511-513
-
-
Capalbo, D.1
Elefante, A.2
Ml, S.3
Mazza, C.4
Betterle, C.5
Pignata, C.6
Salerno, M.7
-
112
-
-
39749093093
-
Chronic mucocutaneous candidiasis and oesophageal cancer
-
Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocutaneous candidiasis and oesophageal cancer. Med Mycol 2008;46(1):85-91
-
(2008)
Med Mycol
, vol.46
, Issue.1
, pp. 85-91
-
-
Rosa, D.D.1
Pasqualotto, A.C.2
Denning, D.W.3
-
113
-
-
51849147152
-
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and tethal lung disease in one of the affected brothers
-
De Luca F, Valenzise M, Alaggio R, Arrigo T, Crisafulli G, Salzano G, Cervato S, Mariniello B, Lazzarotto F, Betterle C. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and tethal lung disease in one of the affected brothers. Eur J Pediatr 2008; 167(11):1283-1288
-
(2008)
Eur J Pediatr
, vol.167
, Issue.11
, pp. 1283-1288
-
-
De Luca, F.1
Valenzise, M.2
Alaggio, R.3
Arrigo, T.4
Crisafulli, G.5
Salzano, G.6
Cervato, S.7
Mariniello, B.8
Lazzarotto, F.9
Betterle, C.10
-
114
-
-
43149088454
-
Autoimmune polyendocrine syndrome type I in Slovakia: Relevance of screening patients with autoimmune Addison's disease
-
N FM, Pura M, A SBW, Vanuga P, Meager A, P MK, Husebye ES. Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. Eur J Endocrinol 2008;158(5):705-709
-
(2008)
Eur J Endocrinol
, vol.158
, Issue.5
, pp. 705-709
-
-
N, F.M.1
Pura, M.2
A, S.B.W.3
Vanuga, P.4
Meager, A.5
P, M.K.6
Husebye, E.S.7
-
115
-
-
3242695096
-
Fatal toxic epidermal necrolysis in autoimmune polyglandular syndrome Type I
-
Porzionato A, Zancaner S, Betterle C, Ferrara SD. Fatal toxic epidermal necrolysis in autoimmune polyglandular syndrome type I. J Endocrinol Invest 2004;27(5):475-479 (Pubitemid 38961262)
-
(2004)
Journal of Endocrinological Investigation
, vol.27
, Issue.5
, pp. 475-479
-
-
Porzionato, A.1
Zancaner, S.2
Betterle, C.3
Ferrara, S.D.4
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