BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 20661889)

  • 21. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
    Ma D; Ge H; Li X; Jiang T; Chen F; Zhang Y; Hu P; Chen S; Zhang J; Ji X; Xu X; Jiang H; Chen M; Wang W; Xu Z
    Gene; 2014 Jul; 544(2):252-8. PubMed ID: 24768736
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 31(2):71-82. PubMed ID: 21258279
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Congenital adrenal hyperplasia. Molecular characterization.
    Ko TM; Kao CH; Ho HN; Tseng LH; Hwa HL; Hsu PM; Chuang SM; Lee TY
    J Reprod Med; 1998 Apr; 43(4):379-86. PubMed ID: 9583072
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
    Toraman B; Ökten A; Kalay E; Karagüzel G; Dinçer T; Açıkgöz EG; Karagüzel A
    Gene; 2013 Jan; 513(1):202-8. PubMed ID: 23142378
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
    Anastasovska V; Kocova M; Zdraveska N; Stojiljkovic M; Skakic A; Klaassen K; Pavlovic S
    Endocrine; 2021 Jul; 73(1):196-202. PubMed ID: 33715135
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z; Hrubá Z; St'ahlová Hrabincová E; Pouchlá S; Votava F; Kolousková S; Fajkusová L
    Int J Mol Med; 2010 Oct; 26(4):595-603. PubMed ID: 20818501
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
    Arriba M; Ezquieta B
    Front Endocrinol (Lausanne); 2022; 13():834549. PubMed ID: 35422767
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
    Pasqualini T; Alonso G; Tomasini R; Galich AM; Buzzalino N; Fernandez C; Minutolo C; Alba L; Dain L
    Medicina (B Aires); 2007; 67(3):253-61. PubMed ID: 17628913
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW
    Am J Pharmacogenomics; 2001; 1(2):101-10. PubMed ID: 12174671
    [TBL] [Abstract][Full Text] [Related]  

  • 30. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
    Hong G; Park HD; Choi R; Jin DK; Kim JH; Ki CS; Lee SY; Song J; Kim JW
    Ann Lab Med; 2015 Sep; 35(5):535-9. PubMed ID: 26206692
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
    Gao YJ; Yu BQ; Lu L; Wu XY; Mao JF; Wang X; Tong AL; Chen S; Nie M
    Zhonghua Yi Xue Za Zhi; 2020 Mar; 100(8):586-592. PubMed ID: 32164112
    [No Abstract]   [Full Text] [Related]  

  • 32. [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; 35(6):832-835. PubMed ID: 30512157
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
    Silveira EL; Elnecave RH; dos Santos EP; Moura V; Pinto EM; van der Linden Nader I; Mendonca BB; Bachega TA
    Clin Genet; 2009 Dec; 76(6):503-10. PubMed ID: 19930153
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S; Tardy V; Chowdhury MR; Gupta N; Jain V; Deka D; Sharma P; Morel Y; Kabra M
    Indian J Med Res; 2017 Feb; 145(2):194-202. PubMed ID: 28639595
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
    Wedell A
    Acta Paediatr; 1998 Feb; 87(2):159-64. PubMed ID: 9512201
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. CYP21A2 intronic variants causing 21-hydroxylase deficiency.
    Concolino P; Rizza R; Costella A; Carrozza C; Zuppi C; Capoluongo E
    Metabolism; 2017 Jun; 71():46-51. PubMed ID: 28521877
    [TBL] [Abstract][Full Text] [Related]  

  • 39. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
    Parajes S; Quinteiro C; Domínguez F; Loidi L
    PLoS One; 2008 May; 3(5):e2138. PubMed ID: 18478071
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
    Mao R; Nelson L; Kates R; Miller CE; Donaldson DL; Tang W; Ward K
    Prenat Diagn; 2002 Dec; 22(13):1171-6. PubMed ID: 12478627
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.