Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene-Reference-Cited by-同舟云学术

Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene

Published:2008-11 Issue:5 Volume:90 Page:2004.e23-2004.e26
ISSN:0015-0282
Container-title:Fertility and Sterility
language:en
Short-container-title:Fertility and Sterility

Author:

Brugnon Florence,Bilan Frederic,Heraud Marie-Christine,Grizard Genevieve,Janny Laurent,Creveaux Isabelle

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology,Reproductive Medicine

Reference13 articles.

1. No differences in outcome after intracytoplasmic sperm injection with fresh or with frozen-thawed epididymal spermatozoa;Tournaye;Hum Reprod,1999

2. Symposium: Genetic aspects of male (in)fertility: molecular pathology of the CFTR locus in male infertility;Claustres;RBMonline,2005

3. Are p.II48T, p.R74W and p.D1270N cystic fibrosis causing mutations?;Claustres;BMC Med Genet,2004

4. Laboratory manual for the examination of human semen and semen–cervical mucus interaction;World Health Organization,1999

5. Identification of 12 novel mutations in the CFTR gene;Audrezet;Hum Mol Genet,1993

Cited by 6 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. CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24;International Journal of Molecular Sciences;2023-03-08

2. Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature;Global Journal of Rare Diseases;2020-08-18

3. Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon;Molecular Genetics & Genomic Medicine;2019-01-01

4. Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles;Journal of Medical Genetics;2016-10-13

5. Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator;The Journal of Molecular Diagnostics;2011-09