Literature DB >> 7692051

Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.

T Bienvenu, C Beldjord, M Adjiman, J C Kaplan.   

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Year:  1993        PMID： 7692051      PMCID： PMC1016546          DOI： 10.1136/jmg.30.9.797

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Cystic fibrosis and congenital absence of the vas deferens.

Authors:  J M Rigot; J J Lafitte; V Dumur; R Gervais; S Manouvrier; J Biserte; E Mazeman; P Roussel
Journal:  N Engl J Med       Date:  1991-07-04       Impact factor: 91.245

2.  Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens.

Authors:  V Dumur; R Gervais; J M Rigot; J J Lafitte; S Manouvrier; J Biserte; E Mazeman; P Roussel
Journal:  Lancet       Date:  1990-08-25       Impact factor: 79.321

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Authors:  A Anguiano; R D Oates; J A Amos; M Dean; B Gerrard; C Stewart; T A Maher; M B White; A Milunsky
Journal:  JAMA       Date:  1992-04-01       Impact factor: 56.272

5.  Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Authors:  M Dean; M B White; J Amos; B Gerrard; C Stewart; K T Khaw; M Leppert
Journal:  Cell       Date:  1990-06-01       Impact factor: 41.582

6.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  6 in total
  6 in total

1.  Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.

Authors:  J P Cheadle; A L Meredith; L Millar-Jones; M C Goodchild
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

2.  Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.

Authors:  V Dumur; R Gervais; J M Rigot; E Delomel-Vinner; B Decaestecker; J J Lafitte; P Roussel
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

3.  The continuum of causality in human genetic disorders.

Authors:  Nicholas Katsanis
Journal:  Genome Biol       Date:  2016-11-17       Impact factor: 13.583

4.  Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His.

Authors:  Michal Shteinberg; Damian G Downey; Diane Beattie; John McCaughan; Alastair Reid; Nili Stein; J Stuart Elborn
Journal:  ERJ Open Res       Date:  2017-03-31

5.  Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR.

Authors:  Neng Chen; Anne E Prada
Journal:  PeerJ       Date:  2014-07-08       Impact factor: 2.984

6.  A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Authors:  Satu Wedenoja; Ahlam Khamaysi; Liana Shimshilashvili; Shireen Anbtawe-Jomaa; Outi Elomaa; Jorma Toppari; Pia Höglund; Kristiina Aittomäki; Christer Holmberg; Outi Hovatta; Juha S Tapanainen; Ehud Ohana; Juha Kere
Journal:  Sci Rep       Date:  2017-10-27       Impact factor: 4.379
  6 in total

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