Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Journal of Applied Genetics

Volumn 55, Issue 1, 2014, Pages 125-144

  Bartnik, Magdalena ^a   Nowakowska, Beata ^a   Derwińska, Katarzyna ^a   Wiśniowiecka Kowalnik, Barbara ^a   Kedzior, Marta ^a   Bernaciak, Joanna ^a   Ziemkiewicz, Kamila ^a   Gambin, Tomasz ^b   Sykulski, Maciej ^c   Bezniakow, Natalia ^a   Korniszewski, Lech ^d   Kutkowska Kaźmierczak, Anna ^a   Klapecki, Jakub ^a   Szczałuba, Krzysztof ^a   Shaw, Chad A ^e   Mazurczak, Tadeusz ^a   Gambin, Anna ^f   Obersztyn, Ewa ^a   Bocian, Ewa ^a   Stankiewicz, Paweł ^a,e  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^c UNIVERSITY OF WARSAW   (Poland)

^d INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Chromosomal microarray analysis; Copy number variation; Microdeletion; Microduplication

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 10Q; CHROMOSOME 13Q; CHROMOSOME 17Q; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DNA ISOLATION; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; SCHOOL CHILD; COHORT ANALYSIS; EXON; GENE DELETION; GENE DOSAGE; GENETICS; HUMAN GENOME; INFANT; KARYOTYPING; PHENOTYPE; POLAND; PROCEDURES;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE DOSAGE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; PHENOTYPE; POLAND; SEQUENCE DELETION;

EID: 84893608665     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-013-0181-x     Document Type: Article

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