A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Published:2013-09 Issue:2 Volume:526 Page:239-245
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Coeli-Lacchini Fernanda Borchers,Turatti Wendy,Elias Paula Conde Lamparelli,Elias Lucila Leico Kagohara,Martinelli Carlos Eduardo,Moreira Ayrton Custodio,Antonini Sonir Roberto,de Castro Margaret

Funder

FAPESP

CNPq

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference40 articles.

1. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency;Araujo;J. Clin. Endocrinol. Metab.,2007

2. Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency;Bachega;Hum. Hered.,1999

3. 21-Hydroxylase deficiency in Brazil;Bachega;Braz. J. Med. Biol. Res.,2000

4. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency;Balsamo;J. Clin. Endocrinol. Metab.,2003

5. A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency;Billerbeck;J. Clin. Endocrinol. Metab.,1999

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1. Novel and Rapid Molecular Diagnosis Methods in Comprehensive Genetic Analysis of 21-hydroxylase Deficiency;2024-04-02

2. Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency;Archives of Gynecology and Obstetrics;2023-02-11

3. Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review;Archives of Endocrinology and Metabolism;2023-02-03

4. Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency;2022-12-06

5. Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children;Frontiers in Genetics;2022-03-02