Literature DB >> 1727830

Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

P C White1, M I New.   

Abstract

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Year:  1992        PMID： 1727830     DOI： 10.1210/jcem.74.1.1727830

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  10 in total

1.  HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.

Authors:  F Parlato; G Pisano; G Misiano; E Cosentini; C Cacciapuoti; M R Cavalcanti; M Brai; A Bellastella
Journal:  J Endocrinol Invest       Date:  1992-06       Impact factor: 4.256

2.  Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.

Authors:  Hui-Jie Zhang; Jun Yang; Man-Na Zhang; Chang-Qin Liu; Min Xu; Xue-Jun Li; Shu-Yu Yang; Xiao-Ying Li
Journal:  Endocrine       Date:  2010-10-27       Impact factor: 3.633

3.  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

Review 4.  21-Hydroxylase deficiency: from molecular genetics to clinical presentation.

Authors:  E Trakakis; D Laggas; E Salamalekis; G Creatsas
Journal:  J Endocrinol Invest       Date:  2005-02       Impact factor: 4.256

5.  Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.

Authors:  L Pascoe; K M Curnow; L Slutsker; J M Connell; P W Speiser; M I New; P C White
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-01       Impact factor: 11.205

6.  Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  S A Wudy; J Homoki; W M Teller
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183

7.  Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.

Authors:  B Ezquieta; A Oliver; R Gracia; P G Gancedo
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

8.  Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Authors:  K M Curnow; L Slutsker; J Vitek; T Cole; P W Speiser; M I New; P C White; L Pascoe
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-15       Impact factor: 11.205

Review 9.  Endobiogeny: a global approach to systems biology (part 1 of 2).

Authors:  Jean-Claude Lapraz; Kamyar M Hedayat
Journal:  Glob Adv Health Med       Date:  2013-01

10.  Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.

Authors:  Violeta Anastasovska; Tatjana Milenković; Mirjana Kocova
Journal:  J Med Biochem       Date:  2014-10-08       Impact factor: 3.402
  10 in total

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