Literature DB >> 1993951

Cystic fibrosis: relationship between clinical status and F508 deletion.

P W Campbell1, J A Phillips, M R Krishnamani, K J Maness, T A Hazinski.   

Abstract

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Year:  1991        PMID： 1993951     DOI： 10.1016/s0022-3476(05)80490-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis.

Authors:  Sabina Schmitt-Grohé; Frank Stüber; Malte Book; Joachim Bargon; Thomas O Wagner; Christian Naujoks; Ralf Schubert; Michael J Lentze; Stefan Zielen
Journal:  Lung       Date:  2006 Mar-Apr       Impact factor: 2.584

2.  Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis.

Authors:  S R Miller; R H Schwartz
Journal:  Am J Public Health       Date:  1992-02       Impact factor: 9.308

3.  Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.

Authors:  R B Parad; C J Gerard; D Zurakowski; D P Nichols; G B Pier
Journal:  Infect Immun       Date:  1999-09       Impact factor: 3.441

Review 4.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

5.  Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Authors:  A Hamosh; T M King; B J Rosenstein; M Corey; H Levison; P Durie; L C Tsui; I McIntosh; M Keston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

6.  Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.

Authors:  G Borgo; P Gasparini; A Bonizzato; G Cabrini; G Mastella; P F Pignatti
Journal:  Eur J Pediatr       Date:  1993-12       Impact factor: 3.183

7.  Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

Authors:  X Estivill; L Ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; J Giménez; V Nunes
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132
  7 in total

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