These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

405 related articles for article (PubMed ID: 11600535)

  • 1. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.
    Cetani F; Barbesino G; Borsari S; Pardi E; Cianferotti L; Pinchera A; Marcocci C
    J Clin Endocrinol Metab; 2001 Oct; 86(10):4747-52. PubMed ID: 11600535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 102(3):163-8. PubMed ID: 23643663
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.
    Kisand K; Peterson P
    Ann N Y Acad Sci; 2011 Dec; 1246():77-91. PubMed ID: 22236432
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 511(1):113-7. PubMed ID: 23000069
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.
    Vogel A; Strassburg CP; Obermayer-Straub P; Brabant G; Manns MP
    J Mol Med (Berl); 2002 Apr; 80(4):201-11. PubMed ID: 11976729
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
    Collins SM; Dominguez M; Ilmarinen T; Costigan C; Irvine AD
    Br J Dermatol; 2006 Jun; 154(6):1088-93. PubMed ID: 16704638
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
    Podkrajsek KT; Bratanic N; Krzisnik C; Battelino T
    J Clin Endocrinol Metab; 2005 Aug; 90(8):4930-5. PubMed ID: 15886230
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
    Ilmarinen T; Eskelin P; Halonen M; Rüppell T; Kilpikari R; Torres GD; Kangas H; Ulmanen I
    Hum Mutat; 2005 Oct; 26(4):322-31. PubMed ID: 16114041
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
    Ishii T; Suzuki Y; Ando N; Matsuo N; Ogata T
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2922-6. PubMed ID: 10946904
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
    Meloni A; Perniola R; Faà V; Corvaglia E; Cao A; Rosatelli MC
    J Clin Endocrinol Metab; 2002 Feb; 87(2):841-6. PubMed ID: 11836330
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy.
    Ward L; Paquette J; Seidman E; Huot C; Alvarez F; Crock P; Delvin E; Kämpe O; Deal C
    J Clin Endocrinol Metab; 1999 Mar; 84(3):844-52. PubMed ID: 10084559
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
    Saugier-Veber P; Drouot N; Wolf LM; Kuhn JM; Frébourg T; Lefebvre H
    Eur J Endocrinol; 2001 Apr; 144(4):347-51. PubMed ID: 11275943
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
    Scott HS; Heino M; Peterson P; Mittaz L; Lalioti MD; Betterle C; Cohen A; Seri M; Lerone M; Romeo G; Collin P; Salo M; Metcalfe R; Weetman A; Papasavvas MP; Rossier C; Nagamine K; Kudoh J; Shimizu N; Krohn KJ; Antonarakis SE
    Mol Endocrinol; 1998 Aug; 12(8):1112-9. PubMed ID: 9717837
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy.
    Notarangelo LD; Mazza C; Forino C; Mazzolari E; Buzi F
    Curr Opin Allergy Clin Immunol; 2004 Dec; 4(6):491-6. PubMed ID: 15640689
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 29(8):979-83. PubMed ID: 27105486
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
    Meriluoto T; Halonen M; Pelto-Huikko M; Kangas H; Korhonen J; Kolmer M; Ulmanen I; Eskelin P
    Keio J Med; 2001 Dec; 50(4):225-39. PubMed ID: 11806500
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
    Stolarski B; Pronicka E; Korniszewski L; Pollak A; Kostrzewa G; Rowińska E; Włodarski P; Skórka A; Gremida M; Krajewski P; Ploski R
    Clin Genet; 2006 Oct; 70(4):348-54. PubMed ID: 16965330
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.