BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 21508664)

  • 1. Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
    Capalbo D; Mazza C; Giordano R; Improda N; Arvat E; Cervato S; Morlin L; Pignata C; Betterle C; Salerno M
    J Endocrinol Invest; 2012 Feb; 35(2):169-73. PubMed ID: 21508664
    [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. 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; 35(10):877-81. PubMed ID: 22104652
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 35(4):384-8. PubMed ID: 22024611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Peculiar genotypes of the autoimmune regulator gene in Italian patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
    Palma A; Crinó A; Palombi M; Cappa M; Fierabracci A
    Clin Lab; 2013; 59(5-6):675-80. PubMed ID: 23865369
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
    Cihakova D; Trebusak K; Heino M; Fadeyev V; Tiulpakov A; Battelino T; Tar A; Halász Z; Blümel P; Tawfik S; Krohn K; Lebl J; Peterson P
    Hum Mutat; 2001 Sep; 18(3):225-32. PubMed ID: 11524733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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; 47(1):126. PubMed ID: 34078422
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
    Valenzise M; Fierabracci A; Cappa M; Porcelli P; Barcellona R; De Luca F; Barollo S; Garelli S; Betterle C
    Horm Res Paediatr; 2014; 82(2):127-32. PubMed ID: 25059117
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes.
    Valenzise M; Wasniewska M; Mirabelli S; De Luca F; Cervato S; Betterle C
    Gene; 2012 May; 499(2):343-6. PubMed ID: 22450362
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
    Setoodeh A; Panjeh-Shahi S; Bahmani F; Vand-Rajabpour F; Jalilian N; Sayarifard F; Abbasi F; Sayarifard A; Rostami P; Parvaneh N; Akhavan-Niaki H; Ahmadifard M; Tabrizi M
    Orphanet J Rare Dis; 2022 Jan; 17(1):10. PubMed ID: 34991662
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 44(4):661-677. PubMed ID: 32767280
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 17(6):917-21. PubMed ID: 15270412
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.