Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders

Molecular Syndromology

Volumn 4, Issue 5, 2013, Pages 213-226

  Poot, M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Autism; Copy number variation; Personalized medicine; Polygenic mode; Single nucleotide variation; Transgenic mouse models

Indexed keywords

BRANCHED CHAIN KETO ACID DEHYDROGENASE KINASE; CLONAZEPAM; CONTACTIN; CONTACTIN ASSOCIATED PROTEIN 2; CYFIP1 PROTEIN; ENGRAILED 2 PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; GLUTAMATE RECEPTOR; NEUREXIN; NEUROLIGIN; OXIDOREDUCTASE; PROTEIN; RAPAMYCIN; RISPERIDONE; SCAFFOLD PROTEIN; SEROTONIN TRANSPORTER; SHANK2 PROTEIN; SODIUM CHANNEL NAV1.1; SOMATOMEDIN C; TRANSCRIPTION FACTOR; TSC1 PROTEIN; UNCLASSIFIED DRUG; NUCLEOTIDE;

AUTISM; COPY NUMBER VARIATION; CORTICAL DYSPLASIA FOCAL EPILEPSY SYNDROME; FAMILIAL HEMIPLEGIC MIGRAINE; FEBRILE CONVULSION; FOCAL EPILEPSY; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; GRAND MAL EPILEPSY; HUMAN; MEDICAL GENETICS; NERVE CELL PLASTICITY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SINGLE NUCLEOTIDE POLYMORPHISM; SYNAPTIC TRANSMISSION; TUBEROUS SCLEROSIS; CLINICAL PRACTICE; FRAGILE X SYNDROME; GENOMICS; LIFE CYCLE; LOSS OF FUNCTION MUTATION; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; NEUROMODULATION; PERSONALIZED MEDICINE; RECURRENCE RISK; SMITH LEMLI OPITZ SYNDROME; STEREOTYPY; UNIVERSITY HOSPITAL;

ANIMALIA; MUS; MUS MUSCULUS;

EID: 84880003036     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000350041     Document Type: Review

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