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Journal Abstract Search

322 related items for PubMed ID: 28540407

  • 1. A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
    Zhu W, Hu Z, Liao X, Chen X, Huang W, Zhong Y, Zeng Z.
    Immunogenetics; 2017 Oct; 69(10):643-651. PubMed ID: 28540407
    [Abstract] [Full Text] [Related]

  • 2. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
    Zhang J, Liu H, Liu Z, Liao Y, Guo L, Wang H, He L, Zhang X, Xing Q.
    PLoS One; 2013 Oct; 8(1):e53981. PubMed ID: 23342054
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  • 3. 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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  • 4. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
    Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N.
    Clin Immunol; 2002 Jun 10; 103(3 Pt 1):277-83. PubMed ID: 12173302
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  • 8. [AIRE gene mutation in polyglandular syndrome type 1].
    Martínez López MM, González Casado I, Alvarez Doforno R, Delgado Cerviño E, Gracia Bouthelier R.
    An Pediatr (Barc); 2006 Jun 10; 64(6):583-7. PubMed ID: 16792967
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  • 9. Autoimmune Polyglandular Syndrome Type 1: a case report.
    Sajjadi-Jazi SM, Soltani A, Enayati S, Kakavand Hamidi A, Amoli MM.
    BMC Med Genet; 2019 Aug 16; 20(1):143. PubMed ID: 31420020
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  • 10. Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
    Shikama N, Nusspaumer G, Holländer GA.
    Endocrinol Metab Clin North Am; 2009 Jun 16; 38(2):273-88, vii. PubMed ID: 19328411
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  • 11. New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
    Mora M, Hanzu FA, Pradas-Juni M, Aranda GB, Halperin I, Puig-Domingo M, Aguiló S, Fernández-Rebollo E.
    PLoS One; 2014 Jun 16; 9(7):e101616. PubMed ID: 24988226
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  • 12. 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 16; 21(10):1003-9. PubMed ID: 19209622
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  • 13. 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 16; 44(11):2493-2510. PubMed ID: 34003463
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  • 14. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation.
    Resende E, Gόmez GN, Nascimento M, Loidi L, Saborido Fiaño R, Cabanas Rodrίguez P, Castro-Feijoo L, Barreiro Conde J.
    Hormones (Athens); 2015 Nov 16; 14(2):312-6. PubMed ID: 25402387
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  • 16. 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 Nov 16; 24(7-8):599-601. PubMed ID: 21932610
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  • 18. Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
    Orlova EM, Sozaeva LS, Kareva MA, Oftedal BE, Wolff ASB, Breivik L, Zakharova EY, Ivanova ON, Kämpe O, Dedov II, Knappskog PM, Peterkova VA, Husebye ES.
    J Clin Endocrinol Metab; 2017 Sep 01; 102(9):3546-3556. PubMed ID: 28911151
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  • 19. 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 01; 49(3):299-306. PubMed ID: 31588815
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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 01; 102(3):163-8. PubMed ID: 23643663
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