Genotype analysis for ΔF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease
John Warner
Hepatology, 1992
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Cystic fibrosis: The ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study
G. Mastella
European Journal of Pediatrics, 1993
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Genetic Modifiers of Liver Disease in Cystic Fibrosis
Claire Wainwright
JAMA, 2009
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Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype
Donatello Salvatore, Teresa Santostasi
American Journal of Medical Genetics, 2001
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Frequency of delta F508 in a Mexican sample of cystic fibrosis patients
Maggi Moreno Chavez
Journal of Medical Genetics, 1993
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Genotype-phenotype relationship in Iranian patients with cystic fibrosis
alireza moraveji
The Turkish Journal of Gastroenterology, 2015
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Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients
Paulo Marostica
Brazilian Journal of Medical and Biological Research, 1998
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Detection of mutation delta F508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry
Pertti Hurskainen
Genome Research, 1992
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Delta F508 in cystic fibrosis: willing but not able
Kevin Southern
Archives of Disease in Childhood, 1997
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Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation
Teresa Santostasi, Luigi Mappa
American Journal of Medical Genetics Part A, 2005
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Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis
Jose Dirceu Ribeiro
Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia
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High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508
Sabina Gallati
European Respiratory Journal, 2001
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Frequency of the deltaF508 mutation in 108 cystic fibrosis patients in São Paulo: comparison with reported Brazilian data
Thelma Okay
Clinics, 2005
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Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype
Rossella Tomaiuolo
Journal of Cystic Fibrosis, 2006
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Prevalence of ∆F508 cystic fibrosis carriers in a Romanian population group
Constantin Ionuț Coroamă
Revista Romana de Medicina de Laborator, 2021
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An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study
Dario Degiorgio
Digestive and Liver Disease, 2009
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Nutrional status and dietary factors in cystic fibrosis patients with delta F508 mutation
Thais Steemburgo
Revista de Nutrição, 2015
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p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil
Geraldo Filho
Brazilian Journal of Medical and Biological Research, 2008
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Liver involvement in cystic fibrosis
Andrea Crosignani
Journal of Hepatology, 1999
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Identification of the commonest cystic fibrosis transmembrane regulator gene ΔF508 mutation: evaluation of PCR–single-strand conformational polymorphism and polyacrylamide gel electrophoresis
Ioannis Kanakis
Biomedical Chromatography, 2006
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Cystic fibrosis liver disease - from diagnosis to risk factors
Liviu Tamas
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2014
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Frequency of the ∆ ∆∆ ∆∆F508 Mutation in 108 Cystic Fibrosis Patients in São Paulo: Comparison with Reported Brazilian Data
Thelma Okay
Clinics, 2005
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Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene ( CFTR ): identification of a 50 kilobase deletion
N. Cobos
Human Molecular Genetics, 1993
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Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
Olga Scudiero
American Journal of Medical Genetics, 2002
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Clinical expression of cystic fibrosis in a large cohort of Italian siblings
Arianna Bisogno
2018
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Association between Haplotypes and Specific Mutations in Swiss Cystic Fibrosis Families
Michael Morris
Pediatric Research, 1991
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