Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report

[1]  K. Lackner,et al.  Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology , 2018, Clinical chemistry and laboratory medicine.

[2]  A. Baranova,et al.  Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis , 2018, BMC Medical Genomics.

[3]  P. Fergelot,et al.  CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants , 2017, Human mutation.

[4]  Marco Lucarelli,et al.  A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology. , 2017, The Journal of molecular diagnostics : JMD.

[5]  G. Yamamoto,et al.  A new insight into CFTR allele frequency in Brazil through next generation sequencing , 2017, Pediatric pulmonology.

[6]  P. Fergelot,et al.  The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible , 2017, Clinical case reports.

[7]  C. Castaños,et al.  Cystic fibrosis in Latin America-Improving the awareness. , 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[8]  V. Raia,et al.  Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles , 2016, Journal of Medical Genetics.

[9]  R. Tremblay,et al.  Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals , 2016, PloS one.

[10]  S. Pierandrei,et al.  The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis. , 2016, The Journal of molecular diagnostics : JMD.

[11]  P. Fergelot,et al.  8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible , 2016 .

[12]  F. Cunningham,et al.  The Ensembl Variant Effect Predictor , 2016, bioRxiv.

[13]  C. Tyler-Smith,et al.  Ancient DNA and the rewriting of human history: be sparing with Occam’s razor , 2016, Genome Biology.

[14]  Arthur Wuster,et al.  Timing, rates and spectra of human germline mutation , 2015, Nature Genetics.

[15]  Garry R. Cutting,et al.  Cystic fibrosis genetics: from molecular understanding to clinical application , 2014, Nature Reviews Genetics.

[16]  R. Gambari,et al.  Tobramycin is a suppressor of premature termination codons. , 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[17]  M. Macek,et al.  Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. , 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[18]  J. Veltman,et al.  De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.

[19]  A. Sobczyńska-Tomaszewska,et al.  Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype. , 2011, The Journal of pediatrics.

[20]  L. Orozco,et al.  CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. , 2010, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.

[21]  T. Tomita,et al.  The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia , 2010, BMC Medical Genetics.

[22]  M. Claustres,et al.  Occurrence of CFTR de novo mutations is not so rare , 2008 .

[23]  R. Kellermayer.  Translational readthrough induction of pathogenic nonsense mutations. , 2006, European journal of medical genetics.

[24]  L. Tsui,et al.  Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) , 2000, Human Genetics.

[25]  M. Ferrari,et al.  Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis , 1996, Human Genetics.

[26]  L. Orozco,et al.  Identification of the I507 deletion by site-directed mutagenesis. , 1994, American journal of medical genetics.

[27]  B. Kerem,et al.  Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. , 1994, Human molecular genetics.

[28]  M. Leppert,et al.  A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene. , 1991, Genomics.

[29]  L. Silverman,et al.  Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. , 1991, Clinical chemistry.

[30]  L. Tsui,et al.  Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA , 1989, Science.

[31]  V. Bours,et al.  Identification and frequencies of cystic fibrosis mutations in central Argentina. , 2016, Clinical biochemistry.

[32]  Manfred Stuhrmann,et al.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations , 2009, European Journal of Human Genetics.

[33]  X. Estivill,et al.  Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis , 1998, Human Mutation.

[34]  L. Tsui,et al.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. , 1989, Science.