15q11.2-13 duplication, mitochondrial dysfunction, and developmental disorders

Journal of Child Neurology

Volumn 24, Issue 10, 2009, Pages 1316-1320

  Frye, Richard E ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

15q11 13 duplication; Autism; Mitochondrial disorders

Indexed keywords

3 O METHYLDOPA; 5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; CARNITINE; CITRATE SYNTHASE; ETIRACETAM; HOMOVANILLIC ACID; NEOPTERIN; NICOTINIC ACID; NUCLEAR RESPIRATORY FACTOR 1; OXCARBAZEPINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SMALL NUCLEAR RIBONUCLEOPROTEIN; TETRAHYDROBIOPTERIN; THIAMINE; TOPIRAMATE; UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUITIN PROTEIN LIGASE E3; ZONISAMIDE; SNRPN PROTEIN, HUMAN; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

APOPTOSIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG DOSE INCREASE; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EVOKED BRAIN STEM AUDITORY RESPONSE; FACE DYSMORPHIA; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE INTERACTION; GENETIC ANALYSIS; HOSPITAL ADMISSION; HUMAN; INFANT; LUMBAR PUNCTURE; METABOLIC STRESS; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; BRAIN; CHROMOSOME 15; DISEASE COURSE; GENETICS; MALE; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; GENE DUPLICATION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; NUCLEAR RESPIRATORY FACTOR 1; SNRNP CORE PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 74949109775     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809333531     Document Type: Article

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