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Journal Abstract Search

436 related items for PubMed ID: 34078422

  • 1. 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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  • 2. 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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  • 4. 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 02; 49(3):299-306. PubMed ID: 31588815
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  • 7. 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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  • 8. 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 Dec 10; 24(7-8):599-601. PubMed ID: 21932610
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  • 9. [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 10; 137(12):794-8. PubMed ID: 21134582
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  • 10. 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, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J.
    J Clin Endocrinol Metab; 2002 Jun 10; 87(6):2568-74. PubMed ID: 12050215
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  • 11. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
    Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD.
    Br J Dermatol; 2006 Jun 10; 154(6):1088-93. PubMed ID: 16704638
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  • 14. 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 10; 44(11):2493-2510. PubMed ID: 34003463
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  • 15. [The challenge for dermatologists of early APECED diagnosis].
    Puzenat E, Bellaud G, Saugier-Veber P, Crémillieux C, Mignot B, Humbert P, Aubin F.
    Ann Dermatol Venereol; 2014 Apr 10; 141(4):290-4. PubMed ID: 24703644
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  • 16. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
    Seifi-Alan M, Shamsi R, Setoodeh A, Sayarifard F, Aghasi P, Kompani F, Ghafouri-Fard S, Abbasi F.
    J Pediatr Endocrinol Metab; 2016 Aug 01; 29(8):979-83. PubMed ID: 27105486
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  • 17. 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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  • 18. 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 12; 17(6):917-21. PubMed ID: 15270412
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  • 19. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
    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.
    Hum Genet; 1998 Oct 12; 103(4):428-34. PubMed ID: 9856486
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  • 20. Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.
    Palma A, Gianchecchi E, Palombi M, Luciano R, Di Carlo P, Crinò A, Cappa M, Fierabracci A.
    Genomics; 2013 Sep 12; 102(3):163-8. PubMed ID: 23643663
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