Literature DB >> 1518030

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

J Cheadle1, L al-Jader, M Goodchild, A L Meredith.   

Abstract

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Year:  1992        PMID： 1518030      PMCID： PMC1016073          DOI： 10.1136/jmg.29.8.597

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


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  4 in total

1.  Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; L C Tsui; H H Kazazian; S E Antonarakis
Journal:  N Engl J Med       Date:  1990-12-13       Impact factor: 91.245

2.  A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Authors:  J Bal; M Stuhrmann; M Schloesser; J Schmidtke; J Reiss
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.

Authors:  M Bonduelle; W Lissens; I Liebaers; A Malfroot; I Dab
Journal:  Lancet       Date:  1991-07-20       Impact factor: 79.321

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
  4 in total
  9 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.  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.  Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Authors:  M Desgeorges; M Laussel; B Rollin; J Demaille; M Claustres
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

4.  Update and Review: Cystic Fibrosis.

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

Review 5.  Recent advances in cystic fibrosis research.

Authors:  R Dinwiddie; O Crawford
Journal:  J R Soc Med       Date:  1993       Impact factor: 5.344

6.  Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.

Authors:  Hui-Ju Chen; Shuan-Pei Lin; Hung-Chang Lee; Chih-Ping Chen; Nan-Chang Chiu; Han-Yang Hung; Schu-Rern Chern; Chih-Kuang Chuang
Journal:  J Hum Genet       Date:  2005-11-10       Impact factor: 3.172

7.  Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Authors:  G Castaldo; E Rippa; G Sebastio; V Raia; P Ercolini; G de Ritis; D Salvatore; F Salvatore
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

8.  Clinical features of cystic fibrosis patients with rare genotypes.

Authors:  G Castaldo; E Rippa; V Raia; D Salvatore; C Massa; G de Ritis; F Salvatore
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

9.  Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.

Authors:  R Rolfini; G Cabrini
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808
  9 in total

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