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

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scientific article published on 22 May 2019

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) artículu científicu espublizáu en mayu de 2019 (ast) im Mai 2019 veröffentlichter wissenschaftlicher Artikel (de) наукова стаття, опублікована в травні 2019 (uk) scientific article published on 22 May 2019 (en)
publication date	wds:Q64279313-0A51FBDE-D863-43FD-B1A4-E564B3DE4A8F
publication date	2019-05-22 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q64279313-E735BA14-4E76-4EBD-9AAB-A62335FBDEB9
language of work or name	English
cites work	wds:Q64279313-0F93A8B3-0CB5-4CF9-9380-10A2862D6751 wds:Q64279313-119A738C-ED44-4BB9-9B6C-BD1DD64B61F1 wds:Q64279313-1721BD76-AD72-482B-8A92-17A13F602181 wds:Q64279313-28530610-E7D2-40E2-8DFC-B3D4A7BB0BB8 wds:Q64279313-3337516F-48D1-4624-83B6-CE9D92B9B6E4 wds:Q64279313-34442AD2-5A9E-43CE-8180-91AE4D46CC18 wds:Q64279313-398AFE60-AA32-46BC-8223-B6CA707D9118 wds:Q64279313-42008FAF-CF6E-4C32-B7F5-A5C2ED63CBB6 wds:Q64279313-4695B129-2B6C-4454-9235-2261E460CB00 wds:Q64279313-487AA944-44E7-48DE-BD8A-48BBA51DA40A wds:Q64279313-59CDA44B-1B6F-4BDF-8643-51CE1FAC0448 wds:Q64279313-60B489C6-F31F-4A7A-9199-736964D742CC wds:Q64279313-6C4056EE-0E00-403A-9A98-517F3B1DC252 wds:Q64279313-7166F921-20B8-4269-9428-1D7531ED455A wds:Q64279313-8564F950-15B2-4612-80B6-6AD9ED62260C wds:Q64279313-8C74F1FC-F974-4E30-99B1-490B6ABC0F5D wds:Q64279313-94AB962D-7796-4FA9-91D7-DE596420AA64 wds:Q64279313-9DB1C010-A3FB-4085-9500-4B9A08FD1F13 wds:Q64279313-B3150C11-FE48-4646-B21E-F4343FD75E71 wds:Q64279313-B38D1A9E-36E5-4548-8C55-558A78E248DB wds:Q64279313-C046A538-04D7-4E05-B67C-F2665577752E wds:Q64279313-C4F1922D-5BDB-42DD-8722-C7DC1B4B6185 wds:Q64279313-C6B6A967-1E4B-48F1-9662-3364EC6BB48E wds:Q64279313-CEA8AE53-1847-4A35-B3CC-47F8E8168761 wds:Q64279313-D13EBD29-134F-43D6-8BB2-2ACA9B6E698B wds:Q64279313-D9FD4493-02CD-4226-9AA6-3BCA1E14C981 wds:Q64279313-DE30855D-FA7A-470B-8E8C-644059BBA085 wds:Q64279313-E20BCFE2-8EE6-4A09-AC8D-154DFAFDB483 wds:Q64279313-F26FBF1A-55D3-4337-B679-0F5BB0101962
cites work	The Ensembl Variant Effect Predictor Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Translational readthrough induction of pathogenic nonsense mutations Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations De novo mutations in human genetic disease Cystic fibrosis genetics: from molecular understanding to clinical application A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21 Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A) Timing, rates and spectra of human germline mutation A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles. Cystic fibrosis in Latin America-Improving the awareness CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology. Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis. The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis Tobramycin is a suppressor of premature termination codons Identification and frequencies of cystic fibrosis mutations in central Argentina 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 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals A new insight into CFTR allele frequency in Brazil through next generation sequencing Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis Identification of the I507 deletion by site-directed mutagenesis CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.
author name string	wds:Q64279313-02B3C133-2D1D-4A9A-8201-93C09D22C8AF wds:Q64279313-0B1EFD74-AC3E-40D0-86F2-7E5B1E9FB2DE wds:Q64279313-362B5523-4486-4054-AE0D-5D9344ECBC10 wds:Q64279313-63F6B2FE-57F1-4F3F-937A-BF51BEA79668 wds:Q64279313-7B83FE98-3437-42EA-99D1-DAC0CE954563 wds:Q64279313-EB4885B5-D2EB-4461-84D5-2B928BF674CE wds:Q64279313-F0241E83-0196-4566-BC1C-94A168D56FC6
author name string	Cecilia Contreras-Cubas Angélica Martínez-Hernández Francisco Barajas-Olmos Elaheh Mirzaeicheshmeh José Luis Lezana Elvia C Mendoza-Caamal Julieta Larrosa
rdfs:label	Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (en) Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (nl)
skos:prefLabel	Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (en) Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (nl)
name	Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (en) Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (nl)
author	wds:Q64279313-4774CAA7-1549-433E-AEBA-778F594082CE wds:Q64279313-6605C2C0-8001-4EB8-B2AC-5B15385D403D
author	Lorena Orozco Humberto García-Ortiz
title	wds:Q64279313-1C66B287-6948-4334-B895-BD3F2D27DF35
title	Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report (en)
page(s)	wds:Q64279313-0C370729-F4B1-442C-B8DB-433F07BC50DD
page(s)	68
instance of	wds:Q64279313-014DBD0B-F471-468C-9A45-6E4A60D9D34B wds:Q64279313-c0815377-b025-4e35-b52f-ba2e67965957
instance of	scholarly article case report

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