Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
about
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesNationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencingDevelopment of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation AnalysisTargeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityCFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisSmall-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.Cystic Fibrosis in the African Diaspora.Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
P2860
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P2860
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Next generation diagnostics of ...... coverage resequencing of CFTR.
@ast
Next generation diagnostics of ...... coverage resequencing of CFTR.
@en
Next generation diagnostics of ...... coverage resequencing of CFTR.
@nl
type
label
Next generation diagnostics of ...... coverage resequencing of CFTR.
@ast
Next generation diagnostics of ...... coverage resequencing of CFTR.
@en
Next generation diagnostics of ...... coverage resequencing of CFTR.
@nl
prefLabel
Next generation diagnostics of ...... coverage resequencing of CFTR.
@ast
Next generation diagnostics of ...... coverage resequencing of CFTR.
@en
Next generation diagnostics of ...... coverage resequencing of CFTR.
@nl
P2093
P2860
P50
P1476
Next generation diagnostics of ...... coverage resequencing of CFTR.
@en
P2093
D Trujillano
G Escaramis
J González
L Armengol
P2860
P304
P356
10.1136/JMEDGENET-2013-101602
P407
P577
2013-05-17T00:00:00Z