Literature DB >> 7573058

CFTR gene variant for patients with congenital absence of vas deferens.

J Zielenski, P Patrizio, M Corey, B Handelin, D Markiewicz, R Asch, L C Tsui.   

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Year:  1995        PMID： 7573058      PMCID： PMC1801510     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  15 in total

1.  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

2.  Genital abnormalities in male patients with cystic fibrosis.

Authors:  D S Holsclaw; A D Perlmutter; H Jockin; H Shwachman
Journal:  J Urol       Date:  1971-10       Impact factor: 7.450

3.  High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.

Authors:  R Gervais; V Dumur; J M Rigot; J J Lafitte; P Roussel; M Claustres; J Demaille
Journal:  N Engl J Med       Date:  1993-02-11       Impact factor: 91.245

4.  Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; D Bozon; B Kerem; D Markiewicz; P Durie; J M Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

5.  Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

Authors:  C S Chu; B C Trapnell; S Curristin; G R Cutting; R G Crystal
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

6.  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

7.  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

8.  Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors:  P Kristidis; D Bozon; M Corey; D Markiewicz; J Rommens; L C Tsui; P Durie
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

9.  Aetiology of congenital absence of vas deferens: genetic study of three generations.

Authors:  P Patrizio; R H Asch; B Handelin; S J Silber
Journal:  Hum Reprod       Date:  1993-02       Impact factor: 6.918

10.  Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.

Authors:  T M Schellen; A van Straaten
Journal:  Fertil Steril       Date:  1980-10       Impact factor: 7.329
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  25 in total

1.  Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

Authors:  P W Miller; A Hamosh; M Macek; P A Greenberger; J MacLean; S M Walden; R G Slavin; G R Cutting
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  CFTR gene variant IVS8-5T in disseminated bronchiectasis.

Authors:  P F Pignatti; C Bombieri; M Benetazzo; A Casartelli; E Trabetti; L S Gilè; L C Martinati; A L Boner; M Luisetti
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  Update and Review: Cystic Fibrosis.

Authors:  T Brown; E L Schwind
Journal:  J Genet Couns       Date:  1999-06       Impact factor: 2.537

4.  Divergent signature motifs of nucleotide binding domains of ABC multidrug transporter, CaCdr1p of pathogenic Candida albicans, are functionally asymmetric and noninterchangeable.

Authors:  Antresh Kumar; Suneet Shukla; Ajeet Mandal; Sudhanshu Shukla; Suresh V Ambudkar; Rajendra Prasad
Journal:  Biochim Biophys Acta       Date:  2010-05-28

Review 5.  Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Authors:  D A S de Souza; F R Faucz; L Pereira-Ferrari; V S Sotomaior; S Raskin
Journal:  Andrology       Date:  2017-12-07       Impact factor: 3.842

6.  Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Authors:  Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; M Daniele Fallin; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Ken Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek; Mireille Claustres; Garry R Cutting
Journal:  Am J Hum Genet       Date:  2003-12-18       Impact factor: 11.025

7.  Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Authors:  Danieli Barino Salinas; Colleen Azen; Suzanne Young; Thomas G Keens; Martin Kharrazi; Richard B Parad
Journal:  Genet Test Mol Biomarkers       Date:  2016-07-22

8.  Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population.

Authors:  Qin Huang; Wei Ding; Mu-Xin Wei
Journal:  World J Gastroenterol       Date:  2008-03-28       Impact factor: 5.742

9.  Assessing the Disease-Liability of Mutations in CFTR.

Authors:  Claude Ferec; Garry R Cutting
Journal:  Cold Spring Harb Perspect Med       Date:  2012-12-01       Impact factor: 6.915

10.  Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  Valeria Faà; Federica Incani; Alessandra Meloni; Denise Corda; Maddalena Masala; A Maria Baffico; Manuela Seia; Antonio Cao; M Cristina Rosatelli
Journal:  J Biol Chem       Date:  2009-09-15       Impact factor: 5.157
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