Literature DB >> 21507910

Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.

Paola Concolino, Enrica Mello, Angelo Minucci, Cecilia Zuppi, Ettore Capoluongo.   

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Year:  2011        PMID: 21507910     DOI: 10.1373/clinchem.2011.162230

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


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  8 in total

1.  Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.

Authors:  Paola Concolino
Journal:  Mol Diagn Ther       Date:  2019-10       Impact factor: 4.074

Review 2.  Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Authors:  Paola Concolino; Alessandra Costella
Journal:  Mol Diagn Ther       Date:  2018-06       Impact factor: 4.074

3.  Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

Authors:  Paola Concolino; Rosa Maria Paragliola
Journal:  Mol Diagn Ther       Date:  2021-03-12       Impact factor: 4.074

Review 4.  Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Jin-Ho Choi; Gu-Hwan Kim; Han-Wook Yoo
Journal:  Ann Pediatr Endocrinol Metab       Date:  2016-03-31

5.  Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.

Authors:  Christopher N Greene; Suzanne K Cordovado; Daniel P Turner; Lisa M Keong; Dorothy Shulman; Patricia W Mueller
Journal:  Mol Genet Metab Rep       Date:  2014-08-08

6.  Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.

Authors:  Sudhisha Dubey; Veronique Tardy; Madhumita Roy Chowdhury; Neerja Gupta; Vandana Jain; Deepika Deka; Pankaj Sharma; Yves Morel; Madhulika Kabra
Journal:  Indian J Med Res       Date:  2017-02       Impact factor: 2.375

7.  PIM1, CYP1B1, and HSPA2 Targeted by Quercetin Play Important Roles in Osteoarthritis Treatment by Achyranthes bidentata.

Authors:  Dujun Ma; Tian Yu; Liping Peng; Lixin Wang; Zhouwei Liao; Wenming Xu
Journal:  Evid Based Complement Alternat Med       Date:  2019-07-15       Impact factor: 2.629

8.  The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.

Authors:  Yang Liu; Jie Zheng; Nan Liu; Xiaowei Xu; Xinjie Zhang; Ying Zhang; Guoxu Li; Geli Liu; Chunquan Cai; Jianbo Shu
Journal:  Mol Genet Genomic Med       Date:  2020-09-21       Impact factor: 2.183

  8 in total

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