Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD-Reference-Cited by-同舟云学术

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Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Published:2020-09-19 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ma Chengquan¹²,Wang Ruyi²³,Li Tengyan³,Li Hongjun¹,Wang Binbin²³^ORCID

Affiliation:

1. Department of Urology Peking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical Sciences Beijing P. R. China

2. Graduate School of Peking Union Medical College Beijing P. R. China

3. Center for Genetics National Research Institute for Family Planning Beijing P. R. China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1506

Reference29 articles.

1. CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies

2. Chevalier‐Porst F. &Bozon D.(2000). Retrieved fromwww.genet.sickkids.on.ca/MutationDetailPage.external?sp=1106

3. Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

4. A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

5. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

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1. Genetic and genomic tests of infertile males;Male Infertility;2025

2. One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study;Clinica Chimica Acta;2024-01

3. Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome;International Journal of Molecular Sciences;2023-11-14

4. Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis;Asian Journal of Andrology;2023

5. Cystic fibrosis transmembrane conductance regulator (CFTR): beyond cystic fibrosis;Egyptian Journal of Medical Human Genetics;2022-05-16

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