Literature DB >> 7539080

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

J P Cheadle, A L Meredith, L Millar-Jones, M C Goodchild.   

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Year:  1995        PMID： 7539080      PMCID： PMC1050244          DOI： 10.1136/jmg.32.2.158

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


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  12 in total

1.  Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

Authors:  J Cheadle; L al-Jader; M Goodchild; A L Meredith
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

2.  Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

Authors:  W Lissens; S Desmyttere; M Bonduelle; I Dab; I Liebaers; B Mercier; M P Audrezet; C Ferec
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

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

Authors:  T Bienvenu; C Beldjord; M Adjiman; J C Kaplan
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Authors:  H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

5.  Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

Authors:  J Zielenski; D Bozon; D Markiewicz; G Aubin; F Simard; J M Rommens; L C Tsui
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

6.  Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.

Authors:  J Hull; S Shackleton; A Harris
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

7.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

8.  Severity of chest disease in cystic fibrosis patients in relation to their genotypes.

Authors:  L N al-Jader; A L Meredith; H C Ryley; J P Cheadle; S Maguire; G Owen; M C Goodchild; P S Harper
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

9.  Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  T V Strong; L S Smit; S Nasr; D L Wood; J L Cole; M C Iannuzzi; R C Stern; F S Collins
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

10.  Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Authors:  T Shoshani; A Augarten; E Gazit; N Bashan; Y Yahav; Y Rivlin; A Tal; H Seret; L Yaar; E Kerem
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025
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  1 in total

1.  Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.

Authors:  M De Braekeleer; C Allard; J P Leblanc; F Simard; G Aubin
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318
  1 in total

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