-
1
-
-
85030607013
-
Enfermedad endocrina y autoinmunidad
-
Pombo M, Audí L, Bregada C, Bueno M, editores. Madrid: McGraw Hill
-
a ed. Madrid: McGraw Hill; 2002. p. 121-39.
-
(2002)
a Ed.
, pp. 121-139
-
-
Castaǹo, L.1
Bilbao, J.R.2
Calvo, B.3
-
3
-
-
0002676550
-
Metabolismo fosfocálcico (II). Hipoparatiroidismo e hiperparatiroidismo
-
Argenté J. Carrascosa A, Gracia R, Rodríguez F, editores. Barcelona: Doyma
-
a ed. Barcelona: Doyma, 2000. p. 1143-54.
-
(2000)
a Ed.
, pp. 1143-1154
-
-
González, I.1
Gracia, R.2
-
4
-
-
0036171124
-
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinophaty-candidiasis-ectodermal-dystrophy patients from Southern Italy
-
Meloni A, Perniola R, Faá V, Corvaglia E, Cao A, Rosatelli MC. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinophaty-candidiasis-ectodermal-dystrophy patients from Southern Italy. J Clin Endocrinol Metab. 2002;87:841-6.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 841-846
-
-
Meloni, A.1
Perniola, R.2
Faá, V.3
Corvaglia, E.4
Cao, A.5
Rosatelli, M.C.6
-
5
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy (APECED) in a series of 68 patients
-
Ahonen P, Muyarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinophaty-candidiasis-ectodermal-dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322:1829-36.
-
(1990)
N Engl J Med
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Muyarniemi, S.2
Sipila, I.3
Perheentupa, J.4
-
6
-
-
0026481974
-
Polyglandular autoimmune síndrome type 1 among Iranian Jews
-
Zlotogora J, Shapiro MS. Polyglandular autoimmune síndrome 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
-
7
-
-
0031753977
-
A common mutation in Sardanian autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy patients
-
Rosatelli MC, Meloni A, Devoto M, Scott HS, Peterson P, Heino M, et al. A common mutation in Sardanian autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy patients. Hum Genet. 1998;103:428-34.
-
(1998)
Hum Genet
, vol.103
, pp. 428-434
-
-
Rosatelli, M.C.1
Meloni, A.2
Devoto, M.3
Scott, H.S.4
Peterson, P.5
Heino, M.6
-
8
-
-
0037961060
-
Autoimmune polyendocrinophaty-candidiasis-ectodermal-dystrophy syndrome: Time to review diagnostic criteria?
-
Buzi F, Badolato C, Mazza C, Giliani S, Notarangelo LD, Radetti G, et al. Autoimmune polyendocrinophaty-candidiasis-ectodermal-dystrophy syndrome: Time to review diagnostic criteria? J Clin Endocrinol Metab. 2003;88:3146-8.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 3146-3148
-
-
Buzi, F.1
Badolato, C.2
Mazza, C.3
Giliani, S.4
Notarangelo, L.D.5
Radetti, G.6
-
9
-
-
0346599403
-
Dystrophy TF-GACAP-C-E. An autoimmune disease, APECED, caused by mutations in a novel gene featuring tow PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy
-
Dystrophy TF-GACAP-C-E. An autoimmune disease, APECED, caused by mutations in a novel gene featuring tow PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy. Nat Genet. 1997;17:399-403.
-
(1997)
Nat Genet
, vol.17
, pp. 399-403
-
-
-
10
-
-
16944367194
-
Positional cloning of the APECED gene
-
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, et al. Positional cloning of the APECED gene. Nat Genet. 1997;17:393-8.
-
(1997)
Nat Genet
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
-
11
-
-
28444438159
-
Autoimmune polyendocrinopathy syndrome tipe 1 (APS-1) and AIRE gene: New views on molecular basis of autoimmunity
-
Peteson P, Peltonen L. Autoimmune polyendocrinopathy syndrome tipe 1 (APS-1) and AIRE gene: New views on molecular basis of autoimmunity. J Autoimmun. 2005;25:49-55.
-
(2005)
J Autoimmun
, vol.25
, pp. 49-55
-
-
Peteson, P.1
Peltonen, L.2
-
12
-
-
0036236464
-
The genetic background of autoimmune polyendocrinophaty-candidiasis- ectodermal-dystrophy and its autoimmune disease components
-
Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manus MP. The genetic background of autoimmune polyendocrinophaty-candidiasis-ectodermal- dystrophy and its autoimmune disease components. J Mol Med. 2002;80:201-11.
-
(2002)
J Mol Med
, vol.80
, pp. 201-211
-
-
Vogel, A.1
Strassburg, C.P.2
Obermayer-Straub, P.3
Brabant, G.4
Manus, M.P.5
-
13
-
-
0034456540
-
Novel mutations of the autoimmune regulator gene in tow siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in tow siblings with autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000;85:2922-6.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 2922-2926
-
-
Ishii, T.1
Suzuki, Y.2
Ando, N.3
Matsuo, N.4
Ogata, T.5
-
15
-
-
2442595192
-
AIRE downregulates multiple molecules that have contradicting immune-enhancing and immune-supressive functions
-
Sato K, Sato U, Taeishi S, Kubo K, Horikawa R, Minura T, et al. AIRE downregulates multiple molecules that have contradicting immune-enhancing and immune-supressive functions. Biochemical and Biophysical Research Communications. 2004;318:935-410.
-
(2004)
Biochemical and Biophysical Research Communications
, vol.318
, pp. 935-1410
-
-
Sato, K.1
Sato, U.2
Taeishi, S.3
Kubo, K.4
Horikawa, R.5
Minura, T.6
-
16
-
-
18444378139
-
AIRE mutations and human leukocyte as determinans of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kämpe O, et al. AIRE mutations and human leukocyte as determinans of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2002;87:2568-74.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2568-2574
-
-
Halonen, M.1
Eskelin, P.2
Myhre, A.G.3
Perheentupa, J.4
Husebye, E.S.5
Kämpe, O.6
-
17
-
-
0242407709
-
Transcription factors in autoimmunity
-
Ramsdell F, Ziegler S. Transcription factors in autoimmunity. Curr Opin Immunol. 2003;15:718-24.
-
(2003)
Curr Opin Immunol
, vol.15
, pp. 718-724
-
-
Ramsdell, F.1
Ziegler, S.2
-
18
-
-
0036227139
-
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocre syndrome tipe 1
-
Boe AS, Knappskog PM, Myhre AG, Sorheim JI, Husebye ES. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocre syndrome tipe 1. Eur J Endocrinol. 2002;146:519-22.
-
(2002)
Eur J Endocrinol
, vol.146
, pp. 519-522
-
-
Boe, A.S.1
Knappskog, P.M.2
Myhre, A.G.3
Sorheim, J.I.4
Husebye, E.S.5
-
19
-
-
0034869235
-
APECED mutations in the autoimmune regulador (AIRE) gene
-
Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS. APECED mutations in the autoimmune regulador (AIRE) gene. Hum Mutat. 2001;18:205-11.
-
(2001)
Hum Mutat
, vol.18
, pp. 205-211
-
-
Heino, M.1
Peterson, P.2
Kudoh, J.3
Shimizu, N.4
Antonarakis, S.E.5
Scott, H.S.6
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