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Thiffault, Isabelle

One or more keywords matched the following items that are connected to Thiffault, Isabelle

Item Type	Name
Concept	Genetic Predisposition to Disease
Academic Article	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article	Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Academic Article	On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Academic Article	The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.
Academic Article	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Academic Article	Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Academic Article	The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Academic Article	Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Academic Article	Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis.
Academic Article	An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.
Academic Article	The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Academic Article	The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.
Academic Article	The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone.
Academic Article	Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Academic Article	Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
Academic Article	Diversity of ARSACS mutations in French-Canadians.
Academic Article	Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Academic Article	Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
Academic Article	BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Academic Article	Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Academic Article	Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Academic Article	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Academic Article	Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Academic Article	The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Academic Article	Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Academic Article	Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank Study.

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Genetic Predisposition to Disease