Whole exome sequencing of suspected mitochondrial patients in clinical practice.
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Mitochondrial disorders in children: toward development of small-molecule treatment strategiesGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityPrimary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberNovel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab EmiratesThe genetics and pathology of mitochondrial disease.Leigh map: A novel computational diagnostic resource for mitochondrial disease.Leigh syndrome: One disorder, more than 75 monogenic causes.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Genetic diagnosis of Mendelian disorders via RNA sequencing.De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG."Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.The role of the clinician in the multi-omics era: are you ready?The functional genomics laboratory: functional validation of genetic variants.PREPL deficiency: delineation of the phenotype and development of a functional blood assay.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.Revisiting mitochondrial diagnostic criteria in the new era of genomics.Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseMitochondrial Genomics: A complex field now coming of ageApplying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate
P2860
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P2860
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@ast
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@en
type
label
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@ast
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@en
prefLabel
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@ast
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
@en
P2093
P2860
P1476
Whole exome sequencing of suspected mitochondrial patients in clinical practice
@en
P2093
David A Koolen
Jan A Smeitink
Saskia B Wortmann
P2860
P2888
P304
P356
10.1007/S10545-015-9823-Y
P577
2015-03-04T00:00:00Z