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Volumn 10, Issue 6, 2008, Pages 544-548

WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 55949100479     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.080028     Document Type: Article
Times cited : (11)

References (14)
  • 1
    • 36348994265 scopus 로고    scopus 로고
    • Comprehensive and rapid genotyping of mutations and haplotypes in CBAVD and other CFTR-related disorders
    • Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M: Comprehensive and rapid genotyping of mutations and haplotypes in CBAVD and other CFTR-related disorders. J Mol Diagn 2007, 9:582-588
    • (2007) J Mol Diagn , vol.9 , pp. 582-588
    • Bareil, C.1    Guittard, C.2    Altieri, J.P.3    Templin, C.4    Claustres, M.5    des Georges, M.6
  • 4
    • 33646068392 scopus 로고    scopus 로고
    • Ferec C, Casals T, Chuzhanova N, Macek M Jr., Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006, 14:567-576
    • Ferec C, Casals T, Chuzhanova N, Macek M Jr., Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006, 14:567-576
  • 5
    • 85031391304 scopus 로고    scopus 로고
    • Girardet A, Guittard C, Altieri J-P, Templin C, Stremler N, Beroud C, des Georges M, Claustres M: Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements. Clin Genet 2007, 72:1-4
    • Girardet A, Guittard C, Altieri J-P, Templin C, Stremler N, Beroud C, des Georges M, Claustres M: Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements. Clin Genet 2007, 72:1-4
  • 6
    • 34249654482 scopus 로고    scopus 로고
    • Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007, 8:22-27
    • Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007, 8:22-27
  • 7
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten J, McElgunn C, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl Acids Res 2002, 30:e57
    • (2002) Nucl Acids Res , vol.30
    • Schouten, J.1    McElgunn, C.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 10
    • 33645976875 scopus 로고    scopus 로고
    • Diagnosing cystic fibrosis in South Africa
    • Westwood T, Henderson B, Ramsay M: Diagnosing cystic fibrosis in South Africa. S Afr Med J 2006, 96:304-305
    • (2006) S Afr Med J , vol.96 , pp. 304-305
    • Westwood, T.1    Henderson, B.2    Ramsay, M.3
  • 11
    • 33748608530 scopus 로고    scopus 로고
    • A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: Implications for population screening
    • Faa V, Bettoli PP, Demurtas M, Zanda M, Ferri V, Cao A, Rosatelli MC: A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening. J Mol Diagn 2006, 8:499-503
    • (2006) J Mol Diagn , vol.8 , pp. 499-503
    • Faa, V.1    Bettoli, P.P.2    Demurtas, M.3    Zanda, M.4    Ferri, V.5    Cao, A.6    Rosatelli, M.C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.