Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
about
Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an exampleAsthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based studyCFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patientsSpontaneous rescue from cystic fibrosis in a mouse model.Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceMeta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsCFTR mutations and polymorphisms in male infertility.Establishing a diagnosis of cystic fibrosis.RNA structure replaces the need for U2AF2 in splicing.p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.SNaPshot assay for the detection of the most common CFTR mutations in infertile men.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms.Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial.Alternative pre-mRNA splicing in the human system: unexpected role of repetitive sequences as regulatory elements.Cystic fibrosis: terminology and diagnostic algorithmsCFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Assessing the Disease-Liability of Mutations in CFTRDefective splicing, disease and therapy: searching for master checkpoints in exon definition.CFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and NanjingAnalysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicingWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population.Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.CFTR: A New Horizon in the Pathomechanism and Treatment of Pancreatitis.Genetic testing in couples undergoing assisted reproduction technique protocols.Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His.Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.
P2860
Q24810250-B82C9476-C271-45D0-93BE-992D9A12F9B3Q24814073-4F401C05-A5ED-47BE-BD5C-3331E2ABA2ECQ28658587-CFFBBF64-7ECF-47DA-A4AB-AB812279D74EQ33237932-F9F6B6E2-F7F3-4DA1-A565-C486B98AE3BDQ33259522-F8C87D6E-4F90-4230-B0B7-D097B8C4E9A1Q33598529-9C2289EB-445B-41BB-952A-08DA86E6DDDAQ33608581-E61950AD-B6E5-4BE8-859A-CEA1CCEDB0FAQ33608587-59FD0E84-65BD-4630-911E-54387DE3CDDEQ34103034-6AF22D09-B1C6-4E64-9EF6-E34D4065E55FQ34325346-F35FAF28-877A-41C2-B863-9FDC6FE413A8Q34349874-D1FD7FCC-AFF7-4E37-947E-77D206872004Q34466692-47897A62-6332-4943-940C-7B166FBC83B9Q34501702-2D26A184-9F91-46AF-ABFE-33666AF9E6F7Q34576284-AA84C38C-61C7-45D9-985A-26673B0493BBQ34728517-85D82926-F8CC-4550-ABEC-E0539CA6711AQ34728748-B88DAA53-8734-44B9-B4DC-4DD3EE8061E2Q34755868-144D0A10-F7CC-47B4-818A-EF179C2ADDEDQ35409860-BB3A141E-F646-4631-A918-63E776A465A1Q35449040-C3D6F216-7084-4FC6-9782-B7612AE6CD7BQ35597808-0CEDA237-3B0C-4EEA-B36D-C08FA0FF88C2Q35789769-8E12AF8D-5199-4CFB-81DE-2E9BD6B96A84Q36269320-DD403F5E-28B1-4FBB-9A61-DC4FCBFDE12CQ36334941-542DE784-CF60-41D0-8A42-7B6CF6A3CB01Q36356490-BF533C1B-3E03-4832-8B4F-CDB18F36E222Q36398902-C79AE370-489B-45E0-92C8-04750F99981DQ36526518-FB7EEDE1-FAA0-44F0-84AF-8B812E161A55Q36541361-F7BE4672-4694-40CD-BDF2-014DE988B84EQ36797117-7B1561B1-3985-45F5-A6A6-46D65C43F8DAQ36918738-9B5CA7E4-C1E6-45A5-8D73-BF10A0F7CCACQ37058059-964EB940-913A-4172-991C-0DE02377B4DFQ37073945-3EE181E5-E455-4050-9677-9EAC7DC81414Q37187461-EB9C7CAA-B5EA-40BA-8430-4EB1C91A9590Q37235575-BFB7FB27-2B42-404D-A1D3-A2880688CFB4Q37519305-D9BB91FF-F808-4B7B-BCBD-E4CFCBD594B3Q37583400-75B7B818-3DA6-4F5E-B4E3-62CA60CEB060Q38089822-1DC54BE3-0DF3-455A-99FE-63784CD2ACE7Q38135327-F00496E1-55E8-4DEB-83A0-17C6E5A99190Q38300717-8808C875-0AE1-4CFD-A580-951CBCA14CF4Q38606186-B6267FBF-4DA1-4F2E-B66D-EB73447BFACBQ38685892-C50085A4-24C6-4529-85BB-53FAD986ED1A
P2860
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Variation in a repeat sequence ...... r gene is pathogenic or benign
@ast
Variation in a repeat sequence ...... r gene is pathogenic or benign
@en
type
label
Variation in a repeat sequence ...... r gene is pathogenic or benign
@ast
Variation in a repeat sequence ...... r gene is pathogenic or benign
@en
prefLabel
Variation in a repeat sequence ...... r gene is pathogenic or benign
@ast
Variation in a repeat sequence ...... r gene is pathogenic or benign
@en
P2093
P2860
P50
P356
P1476
Variation in a repeat sequence ...... r gene is pathogenic or benign
@en
P2093
Agnieszka Sobczynska-Tomaszewska
Caroline Guittard
Cristina Bombieri
Emmanuel Kanavakis
Garry R Cutting
Gyorgy Fekete
Joshua D Groman
Ken Friedman
Krisztina Nemeth
Lluís Bassas
P2860
P304
P356
10.1086/381001
P407
P577
2003-12-18T00:00:00Z