Recent advances in the genetic etiology of brain malformations

Current Neurology and Neuroscience Reports

Volumn 13, Issue 8, 2013, Pages

  Dyment, David A ^a   Sawyer, Sarah L ^a   Chardon, Jodi Warman ^a   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Cerebellum; Heterotopia; Holoprosencephaly; Lissencephaly; Megalencephaly; Microcephaly; Next generation sequencing; Polymicrogyria

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR SIX3; TRANSFORMING GROWTH FACTOR;

AGYRIA; ALEXANDER DISEASE; ARTICLE; BRAIN MALFORMATION; CEREBELLAR ATAXIA; CEREBELLUM; COPY NUMBER VARIATION; DANDY WALKER SYNDROME; EXOME; GENE LOCUS; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HETEROTOPIA; HOLOPROSENCEPHALY; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MICROGYRIA; NEXT GENERATION SEQUENCING; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; BRAIN; CONGENITAL MALFORMATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; NERVOUS SYSTEM MALFORMATION; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW;

BRAIN; HUMANS; NERVOUS SYSTEM MALFORMATIONS; SIGNAL TRANSDUCTION;

EID: 84879054211     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0364-1     Document Type: Article

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