Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+ 15kbdel5.3kb (or CFTRdele19)

Clinical Chemistry

Volumn 46, Issue 9, 2000, Pages 1417-1420

  Costes, B ^a   Girodon, E ^a   Vidaud, D ^a   Flori, E ^a   Ardalan, A ^a   Conteville, P ^a   Fanen, P ^a   Niel, F ^a   Vidaud, M ^a   Goossens, M ^a  

^a HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA DETERMINATION; GENE DELETION; GENE DOSAGE; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; ULTRASOUND;

EID: 0033816638     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.9.1417     Document Type: Article

References (21)

1. Cystic fibrosis
2. Identification of the cystic fibrosis gene: Genetic analysis
3. Prognostic implications of fetal echogenic bowel
4. Bowel abnormalities in the fetus-correlation of prenatal ultrasonographic findings with outcome
5. Cystic fibrosis screening: A fetus with hyperechogenic bowel may be the index case
6. Hyperechogenic fetal bowel: An ultrasonographic marker for adverse fetal and neonatal outcome
7. A large deletion mutation in the CFTR gene (3120+1 kbdel8.6 kb): A founder mutation in the Palestinian Arabs
8. Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
9. Novel approach to quantitative polymerase chain reaction using real-time detection: Application to the detection of gene amplification in breast cancer
10. Function of the second nucleotide-binding fold in the CFTR chloride channel
11. Association of crossover points with topoisomerase I cleavage sites: A model for nonhomologous recombination
12. Nonhomologous recombination in the human genome: Deletions in the human factor VIII gene
13. Forty kilobase deletion (CF40 kbdel4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
14. Novel cystic fibrosis mutation involving deletion of exons 14b through 18 (CF?20 kbdel 14b-18) in a cystic fibrosis patient of German descent from Upstate New York
15. Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): Identification of a 50 kilobase deletion
16. TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency
17. A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females
18. Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis
19. High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling
20. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy