Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation

European Neurology

Volumn 65, Issue 5, 2011, Pages 264-269

  Lo Vasco, Vincenza Rita ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

1p36 deletion syndrome; Mental retardation; Phospholipase C 2; Signaling

Indexed keywords

3 AMINO 2 METHYLPROPIONIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; GAMMA AMINOBUTYRIC ACID A RECEPTOR DELTA; MATRIX METALLOPROTEINASE; MATRIX METALLOPROTEINASE 23 A; MATRIX METALLOPROTEINASE 23 B; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE PHOSPHODIESTERASE; PHOSPHOINOSITIDE SPECIFIC PHOSPHOLIPASE C ETA 2; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

ALLELE; BEHAVIOR DISORDER; BLEPHAROPHIMOSIS; BRACHYDACTYLY; BRAIN MALFORMATION; CALCIUM MOBILIZATION; CHOANA ATRESIA; CHROMOSOME 1P; CHROMOSOME 1P36.3; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL CATARACT; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; EAR INFECTION; EYE MALFORMATION; FACE DYSMORPHIA; GENE DISRUPTION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; KARYOTYPE; LEARNING DISORDER; MENTAL DEFICIENCY; MICROCEPHALY; MIDFACE HYPOPLASIA; MONOSOMY; OBESITY; ONCOGENE; OPTIC NERVE ATROPHY; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROGNATHIA; PSYCHOMOTOR RETARDATION; PTOSIS; RESPIRATORY TRACT INFECTION; REVIEW; SCOLIOSIS; SEGMENTAL DUPLICATION; SEIZURE; SHORT INTERSPERSED REPEAT; SHORT STATURE; SKELETON MALFORMATION; SLEEP DISORDER; SMITH MAGENIS SYNDROME; TOOTH MALFORMATION; TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY; VIRILIZATION;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; MALE; MENTAL RETARDATION; PHOSPHOINOSITIDE PHOSPHOLIPASE C;

EID: 79953715390     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000327307     Document Type: Review

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