Literature DB >> 15161727

Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia.

Hsien-Hsiung Lee1, Yann-Jinn Lee, Peter Chan, Ching-Yu Lin.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15161727     DOI： 10.1373/clinchem.2003.028597

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


× No keyword cloud information.
  10 in total

1.  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

2.  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 3.  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

4.  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

Review 5.  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 6.  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

7.  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

Review 8.  Genetics of congenital adrenal hyperplasia.

Authors:  Nils Krone; Wiebke Arlt
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2009-04       Impact factor: 4.690

9.  Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Authors:  Luigi Laino; Silvia Majore; Nicoletta Preziosi; Barbara Grammatico; Carmelilia De Bernardo; Salvatore Scommegna; Anna Maria Rapone; Giacinto Marrocco; Irene Bottillo; Paola Grammatico
Journal:  Endocr Connect       Date:  2014-09-23       Impact factor: 3.335

10.  MicroRNA-153 suppresses human laryngeal squamous cell carcinoma migration and invasion by targeting the SNAI1 gene.

Authors:  Binbin Zhang; Tao Fu; Lun Zhang
Journal:  Oncol Lett       Date:  2018-08-13       Impact factor: 2.967
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.