Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingThe relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated alleleAsthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based studyU2AF65 adapts to diverse pre-mRNA splice sites through conformational selection of specific and promiscuous RNA recognition motifs.Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study GroupRecent advances in cystic fibrosisThe complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.Immunolocalization and regulation of cystic fibrosis transmembrane conductance regulator in the adult rat epididymis.Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceThirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.Rheumatic disease and cystic fibrosis.The pathogenic consequences of a single mutated CFTR gene.A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.Screening practices for mutations in the CFTR gene ABCC7.CFTR gene mutations and male infertility.Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignDefective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermiaHypermutability at a poly(A/T) tract in the human germlinePulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.Naturally occurring mutations in the canine CFTR gene.The cystic fibrosis transmembrane regulator gene and male infertility.Genetically determined male infertility and assisted reproduction techniques.Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis.Molecular diagnosis of cystic fibrosis.A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART).Comprehensive 5-year study of cytogenetic aberrations in 668 infertile menBest practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsThe CFTR frameshift mutation 3905insT and its effect at transcript and protein level.CFTR mutations and polymorphisms in male infertility.Idiopathic acute recurrent pancreatitis.Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channelsEstablishing a diagnosis of cystic fibrosis.
P2860
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P2860
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh-hant
name
Mutations in the cystic fibros ...... l absence of the vas deferens.
@en
Mutations in the cystic fibros ...... l absence of the vas deferens.
@nl
type
label
Mutations in the cystic fibros ...... l absence of the vas deferens.
@en
Mutations in the cystic fibros ...... l absence of the vas deferens.
@nl
prefLabel
Mutations in the cystic fibros ...... l absence of the vas deferens.
@en
Mutations in the cystic fibros ...... l absence of the vas deferens.
@nl
P2093
P1476
Mutations in the cystic fibros ...... l absence of the vas deferens.
@en
P2093
Claustres M
Ruiz-Romero J
Verlingue C
P304
P356
10.1056/NEJM199506013322204
P407
P577
1995-06-01T00:00:00Z