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Journal Abstract Search

338 related items for PubMed ID: 21932610

  • 1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.
    Kollios K, Tsolaki A, Antachopoulos C, Moix I, Morris MA, Papadopoulou M, Roilides E.
    J Pediatr Endocrinol Metab; 2011; 24(7-8):599-601. PubMed ID: 21932610
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  • 2. [One case of type 1 auto-immune polyendocrinopathy or APECED].
    Puzenat E, Pepin L, Bertrand AM, Pelletier F, Monnier D, Levang J, Mermet I, Humbert P, Aubin F.
    Ann Dermatol Venereol; 2010 Dec; 137(12):794-8. PubMed ID: 21134582
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  • 3. 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, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C.
    Clin Endocrinol (Oxf); 2009 Mar; 70(3):421-8. PubMed ID: 18616706
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  • 4. A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).
    Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M.
    Gene; 2012 Dec 10; 511(1):113-7. PubMed ID: 23000069
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  • 5. Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.
    Jamee M, Mahdaviani SA, Mansouri D, Azizi G, Joneidi N, Ghaffaripour H, Eskandarzade S, Ghaini M, Marjani M, Moniri A, Migaud M, Casanova J, Puel A, Velayati A.
    Immunol Invest; 2020 Apr 10; 49(3):299-306. PubMed ID: 31588815
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  • 6. Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
    Fierabracci A, Lanzillotta M, Vorgučin I, Palma A, Katanić D, Betterle C.
    Ital J Pediatr; 2021 Jun 02; 47(1):126. PubMed ID: 34078422
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  • 7. Novel homozygous AIRE mutation in a German patient with severe APECED.
    von Schnurbein J, Lahr G, Posovszky C, Debatin KM, Wabitsch M.
    J Pediatr Endocrinol Metab; 2008 Oct 02; 21(10):1003-9. PubMed ID: 19209622
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  • 8. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
    Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, Masiero S, Fierabracci A, Bizzarri C, Crinò A, Cappa M, Valenzise M, Meloni A, De Bellis AM, Giordano C, Presotto F, Perniola R, Capalbo D, Salerno MC, Stigliano A, Radetti G, Camozzi V, Greggio NA, Bogazzi F, Chiodini I, Pagotto U, Black SK, Chen S, Rees Smith B, Furmaniak J, Weber G, Pigliaru F, De Sanctis L, Scaroni C, Betterle C.
    J Endocrinol Invest; 2021 Nov 02; 44(11):2493-2510. PubMed ID: 34003463
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  • 10. Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.
    Betterle C, Ghizzoni L, Cassio A, Baronio F, Cervato S, Garelli S, Barbi E, Tonini G.
    J Endocrinol Invest; 2012 Nov 02; 35(10):877-81. PubMed ID: 22104652
    [Abstract] [Full Text] [Related]

  • 11. Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
    Fierabracci A, Arena A, Toto F, Gallo N, Puel A, Migaud M, Kumar M, Chengappa KG, Gulati R, Negi VS, Betterle C.
    J Endocrinol Invest; 2021 Apr 02; 44(4):661-677. PubMed ID: 32767280
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  • 14. 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.
    Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K.
    Endocr J; 2002 Dec 02; 49(6):625-33. PubMed ID: 12625412
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  • 17. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
    Sato U, Horikawa R, Katsumata N, Asakura Y, Kitanaka S, Tanaka T.
    J Pediatr Endocrinol Metab; 2004 Jun 02; 17(6):917-21. PubMed ID: 15270412
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  • 18. Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
    Giordano C, Modica R, Allotta ML, Guarnotta V, Cervato S, Masiero S, Giordano R, Garelli S, Betterle C.
    J Endocrinol Invest; 2012 Apr 02; 35(4):384-8. PubMed ID: 22024611
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  • 19. Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease.
    Fierabracci A.
    Int J Mol Sci; 2016 Jul 12; 17(7):. PubMed ID: 27420045
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