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157 related items for PubMed ID: 38441846

  • 1. High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.
    Ravichandran L, Paul S, A R, Hs A, Mathai S, Simon A, Danda S, Thomas N, Chapla A.
    Endocrine; 2024 Jul; 85(1):363-369. PubMed ID: 38441846
    [Abstract] [Full Text] [Related]

  • 2. Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
    Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A.
    Eur J Med Genet; 2021 Dec; 64(12):104369. PubMed ID: 34718183
    [Abstract] [Full Text] [Related]

  • 3. High carrier frequency of 21-hydroxylase deficiency in Cyprus.
    Phedonos AA, Shammas C, Skordis N, Kyriakides TC, Neocleous V, Phylactou LA.
    Clin Genet; 2013 Dec; 84(6):585-8. PubMed ID: 23600966
    [Abstract] [Full Text] [Related]

  • 4. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
    Oh Y, Park SW, Chun SM, Lim N, Ahn KS, Ka JO, Jin DK, Han BD.
    Mol Diagn Ther; 2009 Dec 01; 13(6):397-405. PubMed ID: 19925038
    [Abstract] [Full Text] [Related]

  • 5. Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.
    Ravichandran L, Asha HS, Mathai S, Thomas N, Chapla A.
    Indian J Endocrinol Metab; 2024 Dec 01; 28(2):117-128. PubMed ID: 38911104
    [Abstract] [Full Text] [Related]

  • 6. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.
    Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H.
    J Clin Endocrinol Metab; 2005 Feb 01; 90(2):775-8. PubMed ID: 15572419
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Clin Chim Acta; 2017 Jan 10; 464():189-194. PubMed ID: 27890570
    [Abstract] [Full Text] [Related]

  • 9. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 10; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 10. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
    Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A.
    Endocrine; 2021 Jan 10; 71(1):189-198. PubMed ID: 32948948
    [Abstract] [Full Text] [Related]

  • 11. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
    Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W.
    J Pediatr Endocrinol Metab; 2020 Jul 28; 33(7):893-900. PubMed ID: 32614782
    [Abstract] [Full Text] [Related]

  • 12. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
    Shammas C, Byrou S, Phelan MM, Toumba M, Stylianou C, Skordis N, Neocleous V, Phylactou LA.
    Hormones (Athens); 2016 Apr 28; 15(2):235-242. PubMed ID: 27376426
    [Abstract] [Full Text] [Related]

  • 13. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
    Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.
    J Endocrinol Invest; 2013 Jun 28; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 14. 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 28; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

  • 15. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
    Front Endocrinol (Lausanne); 2023 Jan 28; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

  • 16. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
    Tsai LP, Cheng CF, Hsieh JP, Teng MS, Lee HH.
    Clin Chim Acta; 2009 Dec 28; 410(1-2):48-53. PubMed ID: 19778530
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
    Anastasovska V, Kocova M.
    Prilozi; 2010 Jul 22; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 19. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Jul 22; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 20. CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
    Concolino P, Mello E, Zuppi C, Toscano V, Capoluongo E.
    Diagn Mol Pathol; 2013 Mar 22; 22(1):48-51. PubMed ID: 23370425
    [Abstract] [Full Text] [Related]

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