-
1
-
-
67650770693
-
Polyglandular autoimmune syndromes
-
Kahaly GJ. Polyglandular autoimmune syndromes. Eur J Endocrinol 2009;161:11-20.
-
(2009)
Eur J Endocrinol
, vol.161
, pp. 11-20
-
-
Kahaly, G.J.1
-
2
-
-
28444438159
-
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity
-
DOI 10.1016/j.jaut.2005.09.022, PII S0896841105001307
-
Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun 2005;25:49-55. (Pubitemid 41728045)
-
(2005)
Journal of Autoimmunity
, vol.25
, Issue.SUPPL.
, pp. 49-55
-
-
Peterson, P.1
Peltonen, L.2
-
3
-
-
78751616196
-
Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity
-
Fierabracci A. Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity. Autoimmun Rev 2011;10:137-43.
-
(2011)
Autoimmun Rev
, vol.10
, pp. 137-143
-
-
Fierabracci, A.1
-
4
-
-
78449283131
-
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED
-
Cervato S, Morlin L, Albergoni MP et al. AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. Clin Endocrinol 2010;73:630-6.
-
(2010)
Clin Endocrinol
, vol.73
, pp. 630-636
-
-
Cervato, S.1
Morlin, L.2
Albergoni, M.P.3
-
5
-
-
0026481974
-
Polyglandular autoimmune syndrome type 1 among Iranian Jews
-
Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type 1 among Iranian Jews. J Med Genet 1992;29:824-6.
-
(1992)
J Med Genet
, vol.29
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
-
6
-
-
60349085274
-
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED) and in their relatives
-
Cervato S, Mariniello B, Lazzarotto F, et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clin Endocrinol 2009;70:421-8.
-
(2009)
Clin Endocrinol
, vol.70
, pp. 421-428
-
-
Cervato, S.1
Mariniello, B.2
Lazzarotto, F.3
-
7
-
-
0031753977
-
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy patients
-
DOI 10.1007/s004390050846
-
Rosatelli MC, Meloni A, Meloni A, et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998;103:428-34. (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
-
8
-
-
0036171124
-
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy
-
DOI 10.1210/jc.87.2.841
-
Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 2002; 87: 841-6. (Pubitemid 34158261)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.2
, pp. 841-846
-
-
Meloni, A.1
Perniola, R.2
Faa, V.3
Corvaglia, E.4
Cao, A.5
Rosatelli, M.C.6
-
9
-
-
85047684725
-
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction
-
DOI 10.1210/er.23.3.327
-
Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndrome: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002;23:327-64. (Pubitemid 34651950)
-
(2002)
Endocrine Reviews
, vol.23
, Issue.3
, pp. 327-364
-
-
Betterle, C.1
Dal, P.C.2
Mantero, F.3
Zanchetta, R.4
-
10
-
-
84862876939
-
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives
-
Capalbo D, Mazza C, Giordano R, et al. Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis- ectodermal-distrophy patients from Campania and in their relatives. J Endocrinol Invest 2012;35:169-73.
-
(2012)
J Endocrinol Invest
, vol.35
, pp. 169-173
-
-
Capalbo, D.1
Mazza, C.2
Giordano, R.3
-
11
-
-
51849147152
-
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers
-
De Luca F, Valenzise M, Alaggio R, et al. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. Eur J Pediatr 2008;167:1283-8.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 1283-1288
-
-
De Luca, F.1
Valenzise, M.2
Alaggio, R.3
-
12
-
-
84860259364
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in Sicily: Confirmation that R203X is the peculiar AIRE gene mutation
-
Giordano C, Modica R, Alloua ML, et al. Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation. J Endocrinol Invest 2012;35:384-8.
-
(2012)
J Endocrinol Invest
, vol.35
, pp. 384-388
-
-
Giordano, C.1
Modica, R.2
Alloua, M.L.3
-
13
-
-
58149089555
-
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune polyendocrine-candidiasis-ectodermal dystrophy
-
Valenzise M, Meloni A, Betterle C, et al. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune polyendocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr 2009;168:237-40.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 237-240
-
-
Valenzise, M.1
Meloni, A.2
Betterle, C.3
-
14
-
-
84867638087
-
A novel heterozygous mutation of the AIRE gene in a patient with autoimmune-polyendocrinopathy-candidiasis-ecto-dermal dystrophy syndrome (APECED)
-
Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M. A novel heterozygous mutation of the AIRE gene in a patient with autoimmune-polyendocrinopathy-candidiasis-ecto-dermal dystrophy syndrome (APECED). Gene 2012; 511:113-7.
-
(2012)
Gene
, vol.511
, pp. 113-117
-
-
Fierabracci, A.1
Bizzarri, C.2
Palma, A.3
Milillo, A.4
Bellacchio, E.5
Cappa, M.6
-
15
-
-
46149114371
-
An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): Identification of a new homozygous mutation in the autoimmune regulator gene (aire)
-
DOI 10.1007/s00431-007-0599-4
-
Lintas C, Cappa M, Comparcola D, Nobili V, Fierabracci A. An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (aire). Eur J Pediatr 2008; 167: 949-53. (Pubitemid 351904591)
-
(2008)
European Journal of Pediatrics
, vol.167
, Issue.8
, pp. 949-953
-
-
Lintas, C.1
Cappa, M.2
Comparcola, D.3
Nobili, V.4
Fierabracci, A.5
|