The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

Genetics in Medicine

Volumn 17, Issue 9, 2015, Pages 719-725

  Al Qattan, Sarah M ^a   Wakil, Salma M ^a   Anazi, Shamsa ^a   Alazami, Anas M ^a   Patel, Nisha ^a   Shaheen, Ranad ^a   Shamseldin, Hanan E ^a   Hagos, Samya T ^a   Aldossari, Haya M ^a   Salih, Mustafa A ^b   El Khashab, Heba Y ^b,c   Kentab, Amal Y ^b   Alnasser, Mohammed N ^b   Bashiri, Fahad A ^b   Kaya, Namik ^a   Hashem, Mais O ^a   Alkuraya, Fowzan S ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c Ain Shams University   (Egypt)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Autism; Developmental delay; Epilepsy; Intellectual disability; Molecular karyotyping

Indexed keywords

GENOMIC DNA;

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL EVALUATION; COGNITION; COMPARATIVE STUDY; CONSANGUINITY; CONTROLLED STUDY; COST UTILITY ANALYSIS; DIAGNOSTIC VALUE; FACIES; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; NEUROCOGNITIVE PHENOTYPE; PATHOGENICITY; PATIENT REFERRAL; PHENOTYPIC VARIATION; POPULATION; RECESSIVE GENE; SAUDI ARABIA; ADOLESCENT; ADULT; CHILD; CHROMOSOME DISORDERS; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; GENETIC ASSOCIATION STUDY; GENETICS; INTELLECTUAL IMPAIRMENT; NEUROCOGNITIVE DISORDERS; PHENOTYPE; PROCEDURES; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; NEUROCOGNITIVE DISORDERS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; SAUDI ARABIA; YOUNG ADULT;

EID: 84940902062     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.184     Document Type: Article

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