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Journal Abstract Search

194 related items for PubMed ID: 19773403

  • 1. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct; 94(10):3954-8. PubMed ID: 19773403
    [Abstract] [Full Text] [Related]

  • 2. Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.
    Kharrat M, Riahi A, Maazoul F, M'rad R, Chaabouni H.
    Diagn Mol Pathol; 2011 Jun; 20(2):123-7. PubMed ID: 21532487
    [Abstract] [Full Text] [Related]

  • 3. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM, Fischer G, Vierhapper H.
    J Clin Endocrinol Metab; 2007 Mar; 92(3):1164-7. PubMed ID: 17164306
    [Abstract] [Full Text] [Related]

  • 4. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.
    Ezquieta B, Beneyto M, Muñoz-Pacheco R, Barrio R, Oyarzabal M, Lechuga JL, Luzuriaga C, Hermoso F, Quinteiro S, Martinez S.
    Prenat Diagn; 2006 Dec; 26(12):1172-8. PubMed ID: 17042033
    [Abstract] [Full Text] [Related]

  • 5. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
    Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.
    J Perinatol; 2013 Jan; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

  • 6. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
    Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F.
    Clin Endocrinol (Oxf); 2006 Mar; 64(3):330-6. PubMed ID: 16487445
    [Abstract] [Full Text] [Related]

  • 7. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA.
    Front Endocrinol (Lausanne); 2023 Mar; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 8. Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.
    Grubic Z, Maskalan M, Stingl Jankovic K, Zvecic S, Dumic Kubat K, Krnic N, Zunec R, Ille J, Kusec V, Dumic M.
    HLA; 2016 Nov; 88(5):239-244. PubMed ID: 27709802
    [Abstract] [Full Text] [Related]

  • 9. A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
    Baumgartner-Parzer SM, Nowotny P, Waldhäusl W, Vierhapper H.
    J Clin Endocrinol Metab; 2003 Jun; 88(6):2794-6. PubMed ID: 12788889
    [Abstract] [Full Text] [Related]

  • 10. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
    Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP.
    Gene; 2019 Mar 01; 687():30-34. PubMed ID: 30419250
    [Abstract] [Full Text] [Related]

  • 11. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 12. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
    [Abstract] [Full Text] [Related]

  • 13. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
    Lee YJ, Tsai LP, Niu DM, Shu SG, Chao MC, Lee HH.
    Mol Genet Metab; 2009 May 22; 97(1):75-9. PubMed ID: 19201236
    [Abstract] [Full Text] [Related]

  • 14. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
    Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E.
    Clin Chim Acta; 2009 Apr 22; 402(1-2):164-70. PubMed ID: 19263525
    [Abstract] [Full Text] [Related]

  • 15. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
    Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.
    Clin Chem Lab Med; 2008 Apr 22; 46(12):1707-13. PubMed ID: 18973462
    [Abstract] [Full Text] [Related]

  • 16. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

  • 17. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
    Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, Doleschall Z, Németh K, Török D, Prohászka Z, Gereben B, Fekete G, Gláz E, Igaz P, Korbonits M, Tóth M, Rácz K, Patócs A.
    Eur J Hum Genet; 2017 Jun 01; 25(6):702-710. PubMed ID: 28401898
    [Abstract] [Full Text] [Related]

  • 18. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov 01; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 01; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of the CYP21A2 gene in the Iranian population.
    Rabbani B, Mahdieh N, Ashtiani MT, Larijani B, Akbari MT, New M, Parsa A, Schouten JP, Rabbani A.
    Genet Test Mol Biomarkers; 2012 Feb 01; 16(2):82-90. PubMed ID: 22017335
    [Abstract] [Full Text] [Related]

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