Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
about
Estimating the inbreeding depression on cognitive behavior: a population based study of child cohortExome sequencing identifies ZNF644 mutations in high myopiaSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingAdaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureCracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesDisease gene identification strategies for exome sequencingGenetic mapping and exome sequencing identify variants associated with five novel diseasesTwo modes of regulation of the fatty acid elongase ELOVL6 by the 3-ketoacyl-CoA reductase KAR in the fatty acid elongation cycleExome sequencing: a transformative technologyGenomics, intellectual disability, and autismDual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.The promise of whole-exome sequencing in medical genetics.Metabolism of very long-chain Fatty acids: genes and pathophysiology.Deep sequencing of patient genomes for disease diagnosis: when will it become routine?Disclosure of genetic research results to members of a founder population.Exome sequencing and the genetics of intellectual disability.Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityBiomedical impact of splicing mutations revealed through exome sequencing.DNA sequencing: clinical applications of new DNA sequencing technologies.Genome-wide association study identifies candidate genes for male fertility traits in humansA population-based study of autosomal-recessive disease-causing mutations in a founder populationMutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profileA nutritional supplement containing lactoferrin stimulates the immune system, extends lifespan, and reduces amyloid β peptide toxicity in Caenorhabditis elegansUnlocking Mendelian disease using exome sequencing.TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeMaking headway with genetic diagnostics of intellectual disabilities.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Exome sequencing greatly expedites the progressive research of Mendelian diseases.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Adverse effects of 5α-reductase inhibitors: What do we know, don't know, and need to know?Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.An estimate of the average number of recessive lethal mutations carried by humans.Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationA quantitative description of the peptide sharing between poliovirus and Homo sapiens.Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.
P2860
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P2860
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
description
2011 nî lūn-bûn
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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2011 թվականի ապրիլին հրատարակված գիտական հոդված
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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name
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@ast
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@en
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@nl
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label
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@ast
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@en
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@nl
prefLabel
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@ast
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@en
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@nl
P2093
P2860
P50
P356
P1476
Exome sequencing reveals a nov ...... TECR gene on chromosome 19p13
@en
P2093
Darrel Waggoner
Dietrich Matern
Khalid Shakir
Kiran Garimella
Mark A dePristo
Minal Çalışkan
Peixian Chen
Rebecca Anderson
P2860
P304
P356
10.1093/HMG/DDQ569
P407
P577
2011-04-01T00:00:00Z