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Journal Abstract Search

219 related items for PubMed ID: 12173302

  • 1. 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; 103(3 Pt 1):277-83. PubMed ID: 12173302
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  • 3. 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; 21(10):1003-9. PubMed ID: 19209622
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  • 4. 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
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  • 7. 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 Oct; 14(2):312-6. PubMed ID: 25402387
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  • 9. 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; 44(11):2493-2510. PubMed ID: 34003463
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  • 10. [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; 64(6):583-7. PubMed ID: 16792967
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  • 11. 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; 87(6):2568-74. PubMed ID: 12050215
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  • 12. Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.
    Fardi Golyan F, Ghaemi N, Abbaszadegan MR, Dehghan Manshadi SH, Vakili R, Druley TE, Rahimi HR, Ghahraman M.
    Immunobiology; 2019 Nov; 224(6):728-733. PubMed ID: 31526676
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  • 13. Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
    Chen J, Lu T, Liu C, Zhao Y, Huang A, Hu X, Li M, Xiang R, Feng M, Lu H.
    BMC Endocr Disord; 2021 Aug 03; 21(1):154. PubMed ID: 34344344
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  • 14. Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.
    Meyer G, Donner H, Herwig J, Böhles H, Usadel KH, Badenhoop K.
    Clin Endocrinol (Oxf); 2001 Mar 03; 54(3):335-8. PubMed ID: 11298085
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  • 15. 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 03; 70(3):421-8. PubMed ID: 18616706
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  • 16. 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 03; 102(3):163-8. PubMed ID: 23643663
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  • 17. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
    Bøe AS, Knappskog PM, Myhre AG, Sørheim JI, Husebye ES.
    Eur J Endocrinol; 2002 Apr 03; 146(4):519-22. PubMed ID: 11916620
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  • 18. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.
    Orlova EM, Bukina AM, Kuznetsova ES, Kareva MA, Zakharova EU, Peterkova VA, Dedov II.
    Horm Res Paediatr; 2010 Apr 03; 73(6):449-57. PubMed ID: 20407228
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  • 19. 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 Apr 03; 8(1):e53981. PubMed ID: 23342054
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  • 20. 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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