Literature DB >> 8644755

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

P F Pignatti, C Bombieri, M Benetazzo, A Casartelli, E Trabetti, L S Gilè, L C Martinati, A L Boner, M Luisetti.   

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Year:  1996        PMID： 8644755      PMCID： PMC1914690     

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


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  6 in total

1.  Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia.

Authors:  K Jarvi; J Zielenski; M Wilschanski; P Durie; M Buckspan; E Tullis; D Markiewicz; L C Tsui
Journal:  Lancet       Date:  1995-06-17       Impact factor: 79.321

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

Authors:  J Zielenski; P Patrizio; M Corey; B Handelin; D Markiewicz; R Asch; L C Tsui
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

3.  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

4.  Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Authors:  P F Pignatti; C Bombieri; C Marigo; M Benetazzo; M Luisetti
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

5.  A mutation in CFTR produces different phenotypes depending on chromosomal background.

Authors:  S Kiesewetter; M Macek; C Davis; S M Curristin; C S Chu; C Graham; A E Shrimpton; S M Cashman; L C Tsui; J Mickle
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

6.  Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Authors:  M Chillón; T Casals; B Mercier; L Bassas; W Lissens; S Silber; M C Romey; J Ruiz-Romero; C Verlingue; M Claustres
Journal:  N Engl J Med       Date:  1995-06-01       Impact factor: 91.245
  6 in total
  20 in total

1.  CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Authors:  C Castellani; A Bonizzato; G Mastella
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Update and Review: Cystic Fibrosis.

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

Review 3.  Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction in Chronic Bronchitis and Other Diseases of Mucus Clearance.

Authors:  S Vamsee Raju; George M Solomon; Mark T Dransfield; Steven M Rowe
Journal:  Clin Chest Med       Date:  2015-12-24       Impact factor: 2.878

4.  Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Edward Kloza; Elaine Sugarman; Barbara Pettersen; Trisha Brown; Kim Jensen; Seth Marcus; Joy Redman
Journal:  J Genet Couns       Date:  2005-02       Impact factor: 2.537

5.  The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

Authors:  N Rave-Harel; E Kerem; M Nissim-Rafinia; I Madjar; R Goshen; A Augarten; A Rahat; A Hurwitz; A Darvasi; B Kerem
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

6.  Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Authors:  H Cuppens; W Lin; M Jaspers; B Costes; H Teng; A Vankeerberghen; M Jorissen; G Droogmans; I Reynaert; M Goossens; B Nilius; J J Cassiman
Journal:  J Clin Invest       Date:  1998-01-15       Impact factor: 14.808

Review 7.  Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Authors:  Aleksandra Nikolic
Journal:  Lung       Date:  2018-05-12       Impact factor: 2.584

Review 8.  Chronic obstructive pulmonary disease. 1: Susceptibility factors for COPD the genotype-environment interaction.

Authors:  A J Sandford; E K Silverman
Journal:  Thorax       Date:  2002-08       Impact factor: 9.139

Review 9.  [Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology].

Authors:  B Tümmler; M Stuhrmann
Journal:  Internist (Berl)       Date:  2003-06       Impact factor: 0.743

Review 10.  Atypical cystic fibrosis and CFTR-related diseases.

Authors:  Shruti M Paranjape; Pamela L Zeitlin
Journal:  Clin Rev Allergy Immunol       Date:  2008-12       Impact factor: 8.667
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