相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Translating the genetics of cystic fibrosis to personalized medicine
Harriet Corvol et al.
TRANSLATIONAL RESEARCH (2016)
Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics Analysis of 30,769 Genotypes
Jonatan Blais et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2015)
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR
Daniel Trujillano et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2015)
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay
F. Nuzzo et al.
HAEMOPHILIA (2015)
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes
M. D. Ramos et al.
CLINICAL GENETICS (2014)
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
Valeria Rimoldi et al.
GENE (2014)
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Neeraj Sharma et al.
HUMAN MUTATION (2014)
Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene
Lucy Costantino et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2013)
Digital PCR as a Novel Technology and Its Potential Implications for Molecular Diagnostics
Jim F. Huggett et al.
CLINICAL CHEMISTRY (2013)
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D. Trujillano et al.
JOURNAL OF MEDICAL GENETICS (2013)
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay et al.
NATURE GENETICS (2013)
The Cystic Fibrosis Gene: A Molecular Genetic Perspective
Lap-Chee Tsui et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2013)
Assessing the Disease-Liability of Mutations in CFTR
Claude Ferec et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
Identification of the roles of conserved charged residues in the extracellular domain of an epithelial sodium channel (ENaC) subunit by alanine mutagenesis
Oded Edelheit et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2011)
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients
Lucy Costantino et al.
JOURNAL OF CYSTIC FIBROSIS (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease
I. Fajac et al.
EUROPEAN RESPIRATORY JOURNAL (2009)
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
Abul Kalam Azad et al.
HUMAN MUTATION (2009)
Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
Valeria Faa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Large genomic rearrangements in the CFTR gene contribute to CBAVD
Magali Taulan et al.
BMC MEDICAL GENETICS (2007)
A survey of newborn screening for cystic fibrosis in Europe
Kevin W. Southern et al.
JOURNAL OF CYSTIC FIBROSIS (2007)
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
MB Sheridan et al.
HUMAN MOLECULAR GENETICS (2005)
Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of Exon 9: A functional link with disease penetrance
E Buratti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay
M Baralle et al.
JOURNAL OF MEDICAL GENETICS (2003)
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
F Pagani et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)