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Journal Abstract Search

245 related items for PubMed ID: 28401898

  • 1. 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]

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

  • 3. 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]

  • 4. 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; 131(12):1889-94. PubMed ID: 22886582
    [Abstract] [Full Text] [Related]

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

  • 6. 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 Dec; 5(1):98-112. PubMed ID: 23241443
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 01; 94(10):3954-8. PubMed ID: 19773403
    [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. 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]

  • 11. 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]

  • 12. 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 10; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 64(12):104369. PubMed ID: 34718183
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 10; 33(1):76-8. PubMed ID: 23269230
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun 10; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
    Muthuvel B, Gautam A, Pal R, Panigrahi I, Dayal D.
    Pediatr Endocrinol Diabetes Metab; 2020 Nov 01; 26(1):58-62. PubMed ID: 32272826
    [Abstract] [Full Text] [Related]

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