High resolution chromosomal microarray in undiagnosed neurological disorders

Journal of Paediatrics and Child Health

Volumn 49, Issue 9, 2013, Pages 716-724

  Howell, Katherine B ^a   Kornberg, Andrew J ^a   Harvey, A Simon ^a,b,c   Ryan, Monique M ^a,b,c   Mackay, Mark T ^a,b   Freeman, Jeremy L ^a,b   Rodriguez Casero, M Victoria ^a   Collins, Kevin J ^a   Hayman, Michael ^a   Mohamed, Ahmad ^a   Ware, Tyson L ^a   Clark, Damian ^a   Bruno, Damien L ^b,c,d   Burgess, Trent ^d   Slater, Howard ^b,c,d   McGillivray, George ^c,d   Leventer, Richard J ^a,b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d VICTORIAN CLINICAL GENETICS SERVICES   (Australia)

Author keywords

chromosomal microarray; copy number variant; long continuous stretch homozygosity; single nucleotide polymorphism microarray.

Indexed keywords

ARTICLE; ATAXIA; AUTISM; BRAIN MALFORMATION; CLINICAL ASSESSMENT; CONTROLLED STUDY; COPY NUMBER VARIATION; CORTICAL DYSPLASIA; EPILEPSY; HIGH RESOLUTION CHROMOSOMAL MICROARRAY; HOMOZYGOSITY; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MICROCEPHALY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMAL MICROARRAY; COPY NUMBER VARIANT; LONG CONTINUOUS STRETCH HOMOZYGOSITY; SINGLE NUCLEOTIDE POLYMORPHISM MICROARRAY.;

CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; NERVOUS SYSTEM DISEASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES;

EID: 84883785072     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/jpc.12256     Document Type: Article

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