Investigation of NRXN1 deletions: Clinical and molecular characterization

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 717-731

  Dabell, Mindy Preston ^a   Rosenfeld, Jill A ^a   Bader, Patricia ^b   Escobar, Luis F ^c   El Khechen, Dima ^c   Vallee, Stephanie E ^d   Dinulos, Mary Beth Palko ^d   Curry, Cynthia ^e   Fisher, Jamie ^e   Tervo, Raymond ^f   Hannibal, Mark C ^g   Siefkas, Kiana ^h   Wyatt, Philip R ⁱ   Hughes, Lauren ⁱ   Smith, Rosemarie ^j   Ellingwood, Sara ^j   Lacassie, Yves ^k   Stroud, Tracy ^l   Farrell, Sandra A ^m   Sanchez Lara, Pedro A ⁿ   Randolph, Linda M ⁿ   Niyazov, Dmitriy ^o   Stevens, Cathy A ^p   Schoonveld, Cheri ^q   Skidmore, David ^r   Mackay, Sara ^r   Miles, Judith H ^s   Moodley, Manikum ^t   Huillet, Adam ^u   Neill, Nicholas J ^a   Ellison, Jay W ^a   Ballif, Blake C ^a   Shaffer, Lisa G ^a   more..

^a PERKINELMER INC   (United States)

^b Northeast Indiana Genetic Counseling Center   (United States)

^c Peyton Manning Children's Hospital   (United States)

^d DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^e Genetic Medicine Central California   (United States)

^f GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^h Children's Village and Yakima Valley Memorial Hospital   (United States)

ⁱ Orillia Soldiers' Memorial Hospital   (Canada)

^j MAINE MEDICAL CENTER   (United States)

^k LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF MISSOURI   (United States)

^m CREDIT VALLEY HOSPITAL   (Canada)

ⁿ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^o Ochsner Children's Health Center   (United States)

^p UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^q UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^r IWK HEALTH CENTRE   (Canada)

^s University of Missouri   (United States)

^t LERNER RESEARCH INSTITUTE   (United States)

^u MADIGAN ARMY MEDICAL CENTER   (United States)

more..

Author keywords

2p16.3; Autism; Developmental delay; Dysmorphic; Microarray; Neurexin 1; Schizophrenia

Indexed keywords

NEUREXIN;

ADOLESCENT; ADULT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BODY DYSMORPHIC DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; ENVIRONMENTAL FACTOR; EPILEPSY; EXON; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEREDITY; HUMAN; INFANT; MALE; MOLECULAR PATHOLOGY; NRXN1 GENE; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AUTISTIC DISORDER; CELL ADHESION MOLECULES, NEURONAL; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; EXONS; FACIES; FEMALE; GENE DELETION; GENE-ENVIRONMENT INTERACTION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PENETRANCE; PHENOTYPE; SCHIZOPHRENIA; YOUNG ADULT;

EID: 84875543486     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35780     Document Type: Article

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