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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

117 related articles for article (PubMed ID: 30703223)

  • 1. [Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
    Xia Y; Mei S; Hu S; Wu Q; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):103-107. PubMed ID: 30703223
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY; Zhang YF; Gu XF
    Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 36(6):366-74. PubMed ID: 23027774
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

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

  • 6. [Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
    Gao YJ; Yu BQ; Lu L; Tong AL; Chen S; Mao JF; Wang X; Wu XY; Nie M
    Zhonghua Yi Xue Za Zhi; 2019 Feb; 99(6):432-437. PubMed ID: 30786337
    [No 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; 526(2):239-45. PubMed ID: 23570880
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R; Baradaran-Heravi A; Barid-Fatehi B; Gholamin M; Ghaemi N; Abbaszadegan MR
    Horm Res; 2005; 63(3):119-24. PubMed ID: 15775714
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Molecular and clinical study on homozygous or heterozygous large deletion of
    Gao YJ; Yu BQ; Lu L; Tong AL; Chen S; Mao JF; Wang X; Wu XY; Nie M
    Zhonghua Yi Xue Za Zhi; 2019 Mar; 99(12):912-917. PubMed ID: 30917440
    [No Abstract]   [Full Text] [Related]  

  • 10. 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; 165(Pt A):51-56. PubMed ID: 27041116
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [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]  

  • 13. Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
    Xu Z; Chen W; Merke DP; McDonnell NB
    J Mol Diagn; 2013 Nov; 15(6):745-53. PubMed ID: 24071710
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
    Su L; Yin X; Cheng J; Cai Y; Wu D; Feng Z; Liu L
    Clin Chim Acta; 2018 Nov; 486():142-150. PubMed ID: 30048636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].
    Su Y; Chen H; Zhu W; Wang J; Zhou J; Chen Y; Zhao H; Zeng Y; Lin F; Zhang H; Lin Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec; 33(6):786-791. PubMed ID: 27984606
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 402(1-2):164-70. PubMed ID: 19263525
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 16(2):82-90. PubMed ID: 22017335
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Analysis of copy number variation of
    Gao YJ; Yu BQ; Lu L; Wu XY; Mao JF; Wang X; Tong AL; Chen S; Nie M
    Zhonghua Yi Xue Za Zhi; 2019 Dec; 99(48):3765-3769. PubMed ID: 31874511
    [No Abstract]   [Full Text] [Related]  

  • 19. [Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
    Zheng R; Zhao Z; Wang Y; Yuan H; Wang S; Su Y; Ma Y; Hu Z; Tian R; Wang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):289-93. PubMed ID: 24928004
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
    Sadeghi F; Yurur-Kutlay N; Berberoglu M; Cetinkaya E; Aycan Z; Kara C; Ilgin Ruhi H; Ocal G; Siklar Z; Elhan A; Tukun A
    J Pediatr Endocrinol Metab; 2008 Aug; 21(8):781-7. PubMed ID: 18825878
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.