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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

164 related items for PubMed ID: 37324257

  • 1. 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; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 2. 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; 25(6):702-710. PubMed ID: 28401898
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 5. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
    Concolino P.
    Mol Biol Rep; 2020 Apr; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
    Saraf S, Srivastava P, Panigrahi I, Seenappa V, Kumar R, Yadav J, Daniel R, Dayal D.
    Indian J Pediatr; 2024 Feb 10; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
    Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S.
    Eur J Med Genet; 2022 Dec 01; 65(12):104654. PubMed ID: 36343887
    [Abstract] [Full Text] [Related]

  • 10. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
    Li H, Zhu X, Yang Y, Wang W, Mao A, Li J, Bao S, Li J.
    Clin Chim Acta; 2023 Jul 01; 547():117419. PubMed ID: 37276943
    [Abstract] [Full Text] [Related]

  • 11. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
    Carrozza C, Foca L, De Paolis E, Concolino P.
    Front Endocrinol (Lausanne); 2021 Jul 01; 12():709758. PubMed ID: 34394006
    [Abstract] [Full Text] [Related]

  • 12. Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP.
    Hum Genet; 2012 Dec 01; 131(12):1889-94. PubMed ID: 22886582
    [Abstract] [Full Text] [Related]

  • 13. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Luo C, Jiang T, Zhang J, Li L, Sun Y, Liu G, Wang Y, Cheng J, Ma D, Xu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec 10; 35(6):832-835. PubMed ID: 30512157
    [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 10; 402(1-2):164-70. PubMed ID: 19263525
    [Abstract] [Full Text] [Related]

  • 15. Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.
    Bánlaki Z, Szabó JA, Szilágyi Á, Patócs A, Prohászka Z, Füst G, Doleschall M.
    Genome Biol Evol; 2013 Apr 10; 5(1):98-112. PubMed ID: 23241443
    [Abstract] [Full Text] [Related]

  • 16. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
    Prado MJ, de Castro SM, Kopacek C, de Mello MP, Rispoli T, Grandi T, da Silva CMD, Rossetti MLR.
    Mol Diagn Ther; 2017 Dec 10; 21(6):663-675. PubMed ID: 28819757
    [Abstract] [Full Text] [Related]

  • 17. Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.
    Wang W, Han R, Yang Z, Zheng S, Li H, Wan Z, Qi Y, Sun S, Ye L, Ning G.
    J Steroid Biochem Mol Biol; 2021 Jul 10; 211():105899. PubMed ID: 33864926
    [Abstract] [Full Text] [Related]

  • 18. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Concolino P, Perrucci A, Carrozza C, Urbani A.
    Mol Diagn Ther; 2023 Sep 10; 27(5):621-630. PubMed ID: 37548905
    [Abstract] [Full Text] [Related]

  • 19. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
    Jang JH, Jin DK, Kim JH, Tan HK, Kim JW, Lee SY, Ki CS, Park HD.
    Ann Clin Lab Sci; 2011 Sep 10; 41(1):44-7. PubMed ID: 21325254
    [Abstract] [Full Text] [Related]

  • 20. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul 10; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.