메뉴 건너뛰기




Volumn 16, Issue 4, 2009, Pages 387-390

Mild cystic fibrosis: Genetics - extending follow-up is necessary;Les formes atténuées de la mucoviscidose : génétique - suivi prolongé nécessaire

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 62649089631     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2008.12.008     Document Type: Article
Times cited : (1)

References (12)
  • 1
    • 29144508282 scopus 로고
    • Electrolyte abnormalities of sweat in fibrocystic disease of the pancreas
    • Darling R.C., di Sant'Agenese P.A., Perera G.A., et al. Electrolyte abnormalities of sweat in fibrocystic disease of the pancreas. Am J Med Sci 225 (1953) 67-70
    • (1953) Am J Med Sci , vol.225 , pp. 67-70
    • Darling, R.C.1    di Sant'Agenese, P.A.2    Perera, G.A.3
  • 2
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    • Riordan J.R., Rommens J.M., Kerem B., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989) 1066-1073
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3
  • 3
    • 43549114493 scopus 로고    scopus 로고
    • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    • Castellani C., Cuppens H., Macek Jr. M., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7 (2008) 179-196
    • (2008) J Cyst Fibros , vol.7 , pp. 179-196
    • Castellani, C.1    Cuppens, H.2    Macek Jr., M.3
  • 4
    • 0033860259 scopus 로고    scopus 로고
    • Spectrum of CFTR mutations in cystic fibrosis and in absence of the vas deferens in France
    • Claustres M., Guittard C., Bozon D., et al. Spectrum of CFTR mutations in cystic fibrosis and in absence of the vas deferens in France. Hum Mutat 16 (2000) 143-156
    • (2000) Hum Mutat , vol.16 , pp. 143-156
    • Claustres, M.1    Guittard, C.2    Bozon, D.3
  • 5
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations - correlation with incidence data and application to screening
    • Bobadilla J.L., Mace Jr. K.M., Fine J.P., et al. Cystic fibrosis: A worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 19 (2002) 575-606
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Mace Jr., K.M.2    Fine, J.P.3
  • 7
    • 34249697608 scopus 로고    scopus 로고
    • Cystic fibrosis and formes frustes of CFTR-related disease
    • Southern W.K. Cystic fibrosis and formes frustes of CFTR-related disease. Respiration 74 (2007) 241-251
    • (2007) Respiration , vol.74 , pp. 241-251
    • Southern, W.K.1
  • 8
    • 33846051977 scopus 로고    scopus 로고
    • Strategies for identifying modifier genes in cystic fibrosis
    • Boyle M.P. Strategies for identifying modifier genes in cystic fibrosis. Proc Am Thorac Soc 4 (2007) 52-57
    • (2007) Proc Am Thorac Soc , vol.4 , pp. 52-57
    • Boyle, M.P.1
  • 9
    • 14744303133 scopus 로고    scopus 로고
    • The CFTR 3849 + 10kbC > T and 2789 + 5G > A alleles are associated with a mild CF phenotype
    • Duguépéroux I., and De Braekeleer M. The CFTR 3849 + 10kbC > T and 2789 + 5G > A alleles are associated with a mild CF phenotype. Eur Respir J 25 (2005) 468-473
    • (2005) Eur Respir J , vol.25 , pp. 468-473
    • Duguépéroux, I.1    De Braekeleer, M.2
  • 10
    • 38349101872 scopus 로고    scopus 로고
    • Diversity of the basic defect of homozygous CFTR mutation genotypes in humans
    • Stanke F., Ballmann M., Bronsveld I., et al. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans. J Med Genet 45 (2008) 47-54
    • (2008) J Med Genet , vol.45 , pp. 47-54
    • Stanke, F.1    Ballmann, M.2    Bronsveld, I.3
  • 11
    • 62649129890 scopus 로고    scopus 로고
    • A French collaborative study indicative of a very low classical-CF penetrance of R117H; implication for genetic counselling
    • Thauvin-Robinet C., Munck A., Huet F., et al. A French collaborative study indicative of a very low classical-CF penetrance of R117H; implication for genetic counselling. J Cystic Fibrosis 7S2 (2008) 44
    • (2008) J Cystic Fibrosis , vol.7 S2 , pp. 44
    • Thauvin-Robinet, C.1    Munck, A.2    Huet, F.3
  • 12
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes
    • Cuppens H., Lin W., Jaspers M., et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J Clin Invest 101 (1998) 487-496
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.