Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
about
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeMolecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyA conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsConsensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceComplete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociBest practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsNotable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomaliesSpectrum of mutations in Gitelman syndrome.LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruptionPrenatal screening of Cystic Fibrosis: a single centre experience.Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genomeToward the pharmacogenomics of cystic fibrosis--an update.Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.Cystic fibrosis: terminology and diagnostic algorithmsA multi-SNP locus-association method reveals a substantial fraction of the missing heritability.CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisInterpreting noncoding genetic variation in complex traits and human disease.Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.An alternative pathway for Alu retrotransposition suggests a role in DNA double-strand break repairDiagnostic CFTR mutation analysis.Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosisMultiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.Clinical and genetic features in patients with cystic fibrosis in southwestern iran.Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Large genomic rearrangements in the CFTR gene contribute to CBAVD.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.Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?Elucidation of the complex structure and origin of the human trypsinogen locus triplication.A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.A large deletion in the CFTR gene in CBAVD.Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
P2860
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P2860
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Genomic rearrangements in the ...... diverse mutational mechanisms.
@en
Genomic rearrangements in the ...... diverse mutational mechanisms.
@nl
type
label
Genomic rearrangements in the ...... diverse mutational mechanisms.
@en
Genomic rearrangements in the ...... diverse mutational mechanisms.
@nl
prefLabel
Genomic rearrangements in the ...... diverse mutational mechanisms.
@en
Genomic rearrangements in the ...... diverse mutational mechanisms.
@nl
P2093
P2860
P356
P1433
P1476
Genomic rearrangements in the ...... diverse mutational mechanisms.
@en
P2093
Claude Férec
Cédric Le Maréchal
Isabelle Quéré
Jian-Min Chen
Karine Giteau
Marie-Pierre Audrézet
Odile Raguénès
P2860
P304
P356
10.1002/HUMU.20009
P577
2004-04-01T00:00:00Z