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Last Posted: Mar 15, 2023

• Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
  Qu Xiaowei, et al. Scientific reports 2023 0 (1) 64
• [Homozygous 5T alleles, clinical presentation and genetic analysis within a family with congenital bilateral absence of the vas deferens].
  Feng J R, et al. Zhonghua yi xue za zhi 2018 0 (18) 1414-1418
• SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.
  Wu Yi-No, et al. BioMed research international 2019 0 3562719
• Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
  Liu Keqiang, et al. Orphanet journal of rare diseases 2020 0 (1) 150
• Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
  Rudnik-Schöneborn S, et al. Human reproduction (Oxford, England) 2020 0 (3) 551-559
• Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.
  Hou Jian-Wen, et al. Asian journal of andrology 2022 6
• Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.
  Cheng Hongbo, et al. Journal of assisted reproduction and genetics 2022 2
• Current updates and future perspectives in the evaluation of azoospermia: A systematic review.
  Punjani Nahid et al. Arab journal of urology 2021 19(3) 206-214
• [Correlation between CFTR 5T polymorphisms and the risk of congenital bilateral absence of the vas deferens].
  Zhao Guo-Guo, et al. Zhonghua nan ke xue = National journal of andrology 2019 3 (3) 231-237
• Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.
  Wang Hongxiang, et al. Andrology 2020 2
• Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?
  Gallego Ángel, et al. Archivos espanoles de urologia 2019 12 (10) 1038-1042
• The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis.
  Yang Luchen, et al. Andrologia 2019 12 e13475
• A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population.
  Asadi Fatemeh, et al. Iranian biomedical journal 2018 7
• The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens.
  Bai Song, et al. Gene 2018 6
• Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population.
  Yang B, et al. Andrology 2017 8
• The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens.
  Gaikwad A, et al. Andrologia 2017 8
• Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
  Patat Olivier, et al. American journal of human genetics 2016 8 (2) 437-42
• Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study.
  Fathy M, et al. Andrologia 2016 3
• Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.
  Xu Xuting, et al. Journal of clinical bioinformatics 2014 0 11
• Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia.
  Ocak Zeynep, et al. Turkish journal of medical sciences 2014 0 (2) 347-51
• Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
  
• Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.
  Sharma Himanshu, et al. Gene 2014 9 (1) 43-7
• The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.
  Du Qiang, et al. BioMed research international 2014 0 689185
• p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
  Martinez Brigitte, et al. Journal of human genetics 2014 4 (4) 206-10
• CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
  Thauvin-Robinet C, et al. Journal of medical genetics 2013 2
• The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.
  Ni Wu-Hua, et al. Asian journal of andrology 2012 9 (5) 687-90
• The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.
  Peleg Leah, et al. Journal of medical screening 2011 0 (4) 169-72
• Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.
  Saldaña-Alvarez Yolanda, et al. Genetic testing and molecular biomarkers 2012 4 (4) 292-6
• CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis.
  Yu Jianmin, et al. Human reproduction (Oxford, England) 2012 1 (1) 25-35
• Screening of ?F508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD.
  Ghorbel M, et al. Andrologia 2012 5 376-82
• Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
  Steiner Bernhard, et al. Human mutation 2011 8 (8) 912-20
• Congenital bilateral absence of the vas deferens
  From NCATS Genetic and Rare Diseases Information Center
• Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.
  Kim Kyung Won, et al. Yonsei medical journal 2010 11 (6) 912-7
• p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
  René Céline, et al. European journal of human genetics : EJHG 2011 1 (1) 36-42
• The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.
  Kosova Gülüm, et al. PLoS genetics 2010 6 (6) e1000974
• Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
  Havasi Viktoria, et al. Fertility and sterility 2010 11 (6) 2122-7
• CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis.
  Chiang H-S, et al. Clinical genetics 2009 9 (3) 282-6
• The role of the F508C mutation in congenital bilateral absence of the vas deferens.
  Havasi Viktoria, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2008 12 (12) 910-4
• Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.
  Costa Catherine, et al. Clinical chemistry 2008 9 (9) 1564-7
• 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.
  Bareil Corinne, et al. The Journal of molecular diagnostics : JMD 2007 11 (5) 582-8
• Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype.
  Radpour Ramin, et al. Journal of andrology 0 0 (1) 35-40
• Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
  Ratbi Ilham, et al. Human reproduction (Oxford, England) 2007 5 (5) 1285-91
• Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.
  Radpour Ramin, et al. Molecular human reproduction 2006 7 (7) 469-73
• Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
  Radpour Ramin, et al. Journal of andrology 0 0 (4) 541-7
• Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.
  Radpour Ramin, et al. Molecular human reproduction 2006 11 (11) 717-21
• CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.
  Anzai Chieko, et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2003 3 (1) 14-8
• Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood.
  Gilljam Marita, et al. Chest 2004 10 (4) 1215-24
• Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens.
  Uzun Semire, et al. The Tohoku journal of experimental medicine 2005 12 (4) 279-85
• Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
  Wu Chien-Chih, et al. Human reproduction (Oxford, England) 2005 9 (9) 2470-5
• Rational approach to genetic testing of cystic fibrosis (CF) in infertile men.
  Mennicke K, et al. Andrologia 2005 2 (1) 1-9

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