Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 162, Issue 4, 2013, Pages 388-403

  Béna, Frédérique ^a   Bruno, Damien L ^b,c   Eriksson, Mats ^d   van Ravenswaaij Arts, Conny ^e   Stark, Zornitza ^b,c   Dijkhuizen, Trijnie ^e   Gerkes, Erica ^e   Gimelli, Stefania ^a   Ganesamoorthy, Devika ^b,c   Thuresson, Ann Charlotte ^f   Labalme, Audrey ^g   Till, Marianne ^g   Bilan, Frédéric ^h   Pasquier, Laurent ⁱ   Kitzis, Alain ^h   Dubourgm, Christele ⁱ   Rossi, Massimiliano ^g   Bottani, Armand ^a   Gagnebin, Maryline ^a   Sanlaville, Damien ^g,j   Gilbert Dussardier, Brigitte ^h   Guipponi, Michel ^a   van Haeringen, Arie ^k   Kriek, Marjolein ^k   Ruivenkamp, Claudia ^k   Antonarakis, Stylianos E ^a,l   Anderlid, Britt Marie ^d,m   Slater, Howard R ^b,c   Schoumans, Jacqueline ^d,n   more..

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f UPPSALA UNIVERSITY   (Sweden)

^g HOSPICES CIVILS DE LYON   (France)

^h POITIERS UNIVERSITY HOSPITAL   (France)

ⁱ SERVICE DE RHUMATOLOGIE   (France)

^j UNIVERSITÉ LYON 1   (France)

^k LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY OF GENEVA   (Switzerland)

^m KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁿ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

more..

Author keywords

Autism; Deletion; Exon; Neurexin; NRXN1; Review; Seizures

Indexed keywords

NEUREXIN; NEUREXIN 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTISM; CARBOXY TERMINAL SEQUENCE; CEPHALOMETRY; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; COPY NUMBER VARIATION; DISEASE SEVERITY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LOSS OF FUNCTION MUTATION; MALE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PEER REVIEW; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

AUTISTIC DISORDER; CELL ADHESION MOLECULES, NEURONAL; COHORT STUDIES; EXONS; HETEROZYGOTE; HUMANS; KARYOTYPING; NERVE TISSUE PROTEINS; SEIZURES; SEQUENCE DELETION;

EID: 84878244184     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32148     Document Type: Article

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