Literature DB >> 12560361

Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.

Hsien-Hsiung Lee1, Shwu-Fen Chang, Yann-Jinn Lee, Salmo Raskin, Shio-Jean Lin, Mei-Chyn Chao, Fu-Sung Lo, Ching-Yu Lin.   

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Year:  2003        PMID： 12560361     DOI： 10.1373/49.2.319

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


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  8 in total

Review 1.  The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.

Authors:  Hsien-Hsiung Lee
Journal:  J Hum Genet       Date:  2004-01-17       Impact factor: 3.172

2.  Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.

Authors:  P Balraj; P G Lim; H Sidek; L L Wu; A S B Khoo
Journal:  J Endocrinol Invest       Date:  2012-10-01       Impact factor: 4.256

3.  Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Authors:  Wuyan Chen; Zhi Xu; Annie Sullivan; Gabriela P Finkielstain; Carol Van Ryzin; Deborah P Merke; Nazli B McDonnell
Journal:  Clin Chem       Date:  2011-12-07       Impact factor: 8.327

4.  Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.

Authors:  Zhi Xu; Wuyan Chen; Deborah P Merke; Nazli B McDonnell
Journal:  J Mol Diagn       Date:  2013-09-23       Impact factor: 5.568

Review 5.  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

Review 6.  The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

Authors:  Duarte Pignatelli; Berta L Carvalho; Aida Palmeiro; Alberto Barros; Susana G Guerreiro; Djuro Macut
Journal:  Front Endocrinol (Lausanne)       Date:  2019-07-04       Impact factor: 5.555

Review 7.  Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.

Authors:  Cinzia Carrozza; Laura Foca; Elisa De Paolis; Paola Concolino
Journal:  Front Endocrinol (Lausanne)       Date:  2021-07-30       Impact factor: 5.555

8.  A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.

Authors:  Paola Concolino; Enrica Mello; Angelo Minucci; Emiliano Giardina; Cecilia Zuppi; Vincenzo Toscano; Ettore Capoluongo
Journal:  BMC Med Genet       Date:  2009-07-22       Impact factor: 2.103
  8 in total

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