Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders-Reference-Cited by-同舟云学术

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Published:2007-11 Issue:5 Volume:9 Page:582-588
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Bareil Corinne,Guittard Caroline,Altieri Jean-Pierre,Templin Carine,Claustres Mireille,des Georges Marie

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference31 articles.

1. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms;Audrézet;Hum Mutat,2004

2. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis;Niel;J Med Genet,2004

3. Frequency of large CFTR gene rearrangements in Italian CF patients;Bombieri;Eur J Hum Genet,2005

4. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening;Hantash;Hum Genet,2006

5. A large deletion in the CFTR gene in CBAVD;Hantash;Genet Med,2006

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR;Genes;2023-09-09

2. Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract;Diagnostics;2021-01-25

3. Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping;Fertility and Sterility;2020-09

4. External and Genetic Conditions Determining Male Infertility;International Journal of Molecular Sciences;2020-07-24

5. Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders;Archives de Pédiatrie;2020-02