Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities

American Journal of Medical Genetics, Part A

Volumn 143, Issue 6, 2007, Pages 558-563

  Quintero Rivera, Fabiola ^a,d,e   Chan, Alicia ^b   Donovan, Diana J ^c   Gusella, James F ^a,d   Ligon, Azra H ^c,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Neurodevelopment; Reciprocal translocation; Seizures; Synaptotagmin

Indexed keywords

GENE PRODUCT; SYNAPTOTAGMIN;

ARTICLE; BIOSENSOR; BRAIN ATROPHY; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CONTROLLED STUDY; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC ASSOCIATION; HORMONE RESPONSE; HUMAN; HUMAN TISSUE; MACROCEPHALY; NERVE CELL DIFFERENTIATION; NEUROTRANSMISSION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SEIZURE; SOUTHERN BLOTTING; SYT14 GENE;

ABNORMALITIES, MULTIPLE; ATROPHY; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; BRAIN; CHILD; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; SEIZURES; SYNAPTOTAGMINS; TRANSLOCATION, GENETIC;

EID: 33847353750     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31618     Document Type: Article

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