Journal ArticleDOI
Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens
Viviane Dumur,Radj Gervais,Jean-Marc Rigot,Jean-Jacques Lafitte,Sylvie Manouvrier,Jaques Biserte,E. Mazeman,Philippe Roussel +7 more
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This article is published in The Lancet.The article was published on 1990-08-25. It has received 182 citations till now. The article focuses on the topics: Vasography & Congenital absence of the vas deferens.read more
Citations
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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
Miguel Chillón,Teresa Casals,Bernard Mercier,Lluís Bassas,Willy Lissens,Sherman J. Silber,Marie-Catherine Romey,Javier Ruiz-Romero,C. Verlingue,Mireille Claustres,V. Nunes,Claude Férec,Xavier Estivill +12 more
TL;DR: The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD.
Journal ArticleDOI
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Carlo Castellani,Harry Cuppens,Milan Macek,J J Cassiman,Eitan Kerem,Peter R. Durie,Elizabeth Tullis,B.M. Assael,Cristina Bombieri,A. Brown,Teresa Casals,Mireille Claustres,Garry R. Cutting,Els Dequeker,John A Dodge,Iolo Doull,Philip M. Farrell,Claude Férec,E. Girodon,M. Johannesson,Batsheva Kerem,Michael R. Knowles,Anne Munck,Pier Franco Pignatti,Dragica Radojkovic,Paolo Rizzotti,Martin Schwarz,Manfred Stuhrmann,Maria Tzetis,Julian Zielenski,Joseph Elborn +30 more
TL;DR: The conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings are described, including the use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended.
Journal ArticleDOI
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
Arturo Anguiano,Robert D. Oates,Jean A. Amos,Michael Dean,Bernard Gerrard,Claudia Stewart,Thomas A. Maher,Marga Belle White,Aubrey Milunsky +8 more
TL;DR: Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF, and CF mutation analysis should be recommended for them and their partners, as well as for their relatives.
Journal ArticleDOI
Correlation between genotype and phenotype in patients with cystic fibrosis.
TL;DR: Prenatal and prognostic counseling for patients with the R117H/delta F508 genotype should include the likelihood that they will have long-term pancreatic sufficiency, and Patients with the other genotypes should expect the early onset of pancreatic insufficiency.
Journal ArticleDOI
Genotype and phenotype in cystic fibrosis.
TL;DR: Expansion of the spectrum of disease associated with the CFTR mutant genes creates a need for revision of the diagnostic criteria for CF and a dilemma for setting nosologic boundaries between CF and other diseases with CFTR etiology.
References
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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
John R. Riordan,Johanna M. Rommens,Batsheva Kerem,Noa Alon,Richard Rozmahel,Zbyszko Grzelczak,Julian Zielenski,Si Lok,Natasa Plavsic,Jia Ling Chou,Mitchell L. Drumm,Michael C. Iannuzzi,Francis S. Collins,Lap-Chee Tsui +13 more
TL;DR: A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
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Reproductive Failure in Males with Cystic Fibrosis
Elvin Kaplan,Harry Shwachman,Alan D. Perlmutter,Allyn H. Rule,Kon-Taik Khaw,Douglas S. Holsclaw +5 more
TL;DR: Adult males with cystic fibrosis are infertile because of failure of normal development of the vas deferens, a finding not previously recognized.
Journal ArticleDOI
Genital abnormalities in male patients with cystic fibrosis.
Journal ArticleDOI
Abnormal distribution of cystic fibrosis ΔF508 allele in adults with chronic bronchial hypersecretion
Viviane Dumur,Jean-Jacques Lafitte,Radj Gervais,Dominique Debaecker,Maryse Kesteloot,Guy Lalau,Philippe Roussel +6 more
TL;DR: Chromosomal aberrations suggestive of mutagen-related leukemia after 21 years of "therapeutic" radon exposure are found and dose distribution received on inhalation of 222Rn and its decay products is determined.