Literature DB >> 12906319

Atypical cystic fibrosis--diagnostic and management dilemmas.

Colin Wallis1.   

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Year:  2003        PMID： 12906319      PMCID： PMC1308781     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


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  40 in total

1.  Time to think again: cystic fibrosis is not an "all or none" disease.

Authors:  A Bush; C Wallis
Journal:  Pediatr Pulmonol       Date:  2000-08

2.  Cystic fibrosis diagnosis: new dilemmas for an old disorder.

Authors:  Beryl J Rosenstein
Journal:  Pediatr Pulmonol       Date:  2002-02

3.  What is cystic fibrosis?

Authors:  Michael R Knowles; Peter R Durie
Journal:  N Engl J Med       Date:  2002-08-08       Impact factor: 91.245

Review 4.  Pancreatitis and cystic fibrosis gene mutations.

Authors:  C P Choudari; G A Lehman; S Sherman
Journal:  Gastroenterol Clin North Am       Date:  1999-09       Impact factor: 3.806

5.  Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.

Authors:  F Mekus; M Ballmann; I Bronsveld; J Bijman; H Veeze; B Tümmler
Journal:  Twin Res       Date:  2000-12

6.  Airway function in infants newly diagnosed with cystic fibrosis.

Authors:  S C Ranganathan; C Dezateux; A Bush; S B Carr; R A Castle; S Madge; J Price; J Stroobant; A Wade; C Wallis; J Stocks
Journal:  Lancet       Date:  2001-12-08       Impact factor: 79.321

7.  Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition.

Authors:  M R Kosorok; L Zeng; S E West; M J Rock; M L Splaingard; A Laxova; C G Green; J Collins; P M Farrell
Journal:  Pediatr Pulmonol       Date:  2001-10

8.  Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

Authors:  A Abdul Wahab; G Al Thani; S T Dawod; M Kambouris; M Al Hamed
Journal:  J Trop Pediatr       Date:  2001-04       Impact factor: 1.165

9.  Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Authors:  Joshua D Groman; Michelle E Meyer; Robert W Wilmott; Pamela L Zeitlin; Garry R Cutting
Journal:  N Engl J Med       Date:  2002-08-08       Impact factor: 91.245

Review 10.  Phenotype of CF and the effects of possible modifier genes.

Authors:  J D Acton; R W Wilmott
Journal:  Paediatr Respir Rev       Date:  2001-12       Impact factor: 2.726
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  8 in total

1.  Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.

Authors:  Francisco Mora-Lopez; Manuel Bernal-Quiros; Alfonso M Lechuga-Sancho; Jose Luis Lechuga-Campoy; Nestor Hernandez-Trujillo; Antonio Nieto
Journal:  Eur J Pediatr       Date:  2012-02-28       Impact factor: 3.183

2.  Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.

Authors:  R Sebro; H Levy; K Schneck; D Dimmock; B A Raby; C L Cannon; U Broeckel; N J Risch
Journal:  Clin Genet       Date:  2011-11-29       Impact factor: 4.438

3.  Hoping to live a "normal" life whilst living with unpredictable health and fear of death: impact of cystic fibrosis on young adults.

Authors:  Lorraine Higham; Shenaz Ahmed; Mushtaq Ahmed
Journal:  J Genet Couns       Date:  2012-12-14       Impact factor: 2.537

4.  Prevalence of rhinosinusitis among atypical cystic fibrosis patients.

Authors:  Tal Marshak; Y Rivlin; L Bentur; O Ronen; N Uri
Journal:  Eur Arch Otorhinolaryngol       Date:  2010-09-15       Impact factor: 2.503

5.  Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

Authors:  Joshua D Groman; Barbara Karczeski; Molly Sheridan; Terry E Robinson; M Daniele Fallin; Garry R Cutting
Journal:  J Pediatr       Date:  2005-05       Impact factor: 4.406

6.  Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

Authors:  Sofia S Ramalho; Iris A L Silva; Margarida D Amaral; Carlos M Farinha
Journal:  Int J Mol Sci       Date:  2021-12-21       Impact factor: 5.923

7.  Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.

Authors:  Maria F Servidoni; Marisa Sousa; Adriana M Vinagre; Silvia R Cardoso; Maria A Ribeiro; Luciana R Meirelles; Rita B de Carvalho; Karl Kunzelmann; Antônio F Ribeiro; José D Ribeiro; Margarida D Amaral
Journal:  BMC Gastroenterol       Date:  2013-05-20       Impact factor: 3.067

8.  Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

Authors:  Vinícius Buaes Dal'Maso; Lucas Mallmann; Marina Siebert; Laura Simon; Maria Luiza Saraiva-Pereira; Paulo de Tarso Roth Dalcin
Journal:  J Bras Pneumol       Date:  2013 Mar-Apr       Impact factor: 2.624
  8 in total

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