Literature DB >> 2035541

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.

A L Beaudet, R G Perciaccante, G R Cutting.   

Abstract

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Year:  1991        PMID： 2035541      PMCID： PMC1683113     

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


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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.  The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Authors:  E Kerem; M Corey; B S Kerem; J Rommens; D Markiewicz; H Levison; L C Tsui; P Durie
Journal:  N Engl J Med       Date:  1990-11-29       Impact factor: 91.245

3.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

4.  Uniparental disomy as a mechanism for human genetic disease.

Authors:  J E Spence; R G Perciaccante; G M Greig; H F Willard; D H Ledbetter; J F Hejtmancik; M S Pollack; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025
  4 in total
  9 in total

1.  Rare etiology of autosomal recessive disease in a child with noncarrier parents.

Authors:  R V Lebo; L R Shapiro; E Y Fenerci; J M Hoover; J L Chuang; D T Chuang; D F Kronn
Journal:  Am J Hum Genet       Date:  2000-07-27       Impact factor: 11.025

2.  The ratio of maternal to paternal UPD associated with recessive diseases.

Authors:  Angela M Vianna-Morgante
Journal:  Hum Genet       Date:  2005-05-14       Impact factor: 4.132

3.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

4.  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

5.  Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Authors:  A Hamosh; B C Trapnell; P L Zeitlin; C Montrose-Rafizadeh; B J Rosenstein; R G Crystal; G R Cutting
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

Review 6.  Williams syndrome starts making sense.

Authors:  J Ashkenas
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

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.  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

Review 9.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Authors:  Joel Zlotogora
Journal:  Hum Genet       Date:  2004-03-16       Impact factor: 4.132
  9 in total

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