Literature DB >> 33901292

Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".

Qizong Lao1, Deborah P Merke1,2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2021        PMID： 33901292      PMCID： PMC8427707          DOI： 10.1210/clinem/dgab280

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


× No keyword cloud information.
  8 in total

1.  Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Gabriela P Finkielstain; Wuyan Chen; Sneha P Mehta; Frank K Fujimura; Reem M Hanna; Carol Van Ryzin; Nazli B McDonnell; Deborah P Merke
Journal:  J Clin Endocrinol Metab       Date:  2010-10-06       Impact factor: 5.958

2.  High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.

Authors:  Qizong Lao; Brittany Brookner; Deborah P Merke
Journal:  J Mol Diagn       Date:  2019-06-21       Impact factor: 5.568

3.  Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Authors:  Roxana Marino; Natalia Perez Garrido; Pablo Ramirez; Guillermo Notaristéfano; Angélica Moresco; Maria Sol Touzon; Elisa Vaiani; Gabriela Finkielstain; María Gabriela Obregón; Viviana Balbi; Ianina Soria; Alicia Belgorosky
Journal:  J Clin Endocrinol Metab       Date:  2021-06-16       Impact factor: 5.958

4.  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

5.  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

6.  The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.

Authors:  Yinjie Gao; Lin Lu; Bingqing Yu; Jiangfeng Mao; Xi Wang; Min Nie; Xueyan Wu
Journal:  J Clin Endocrinol Metab       Date:  2020-07-01       Impact factor: 5.958

7.  EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Authors:  Sabina Baumgartner-Parzer; Martina Witsch-Baumgartner; Wolfgang Hoeppner
Journal:  Eur J Hum Genet       Date:  2020-07-02       Impact factor: 4.246
  8 in total
  1 in total

Review 1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.