Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Clinical Genetics

Volumn 86, Issue 4, 2014, Pages 361-366

  Spreiz, A ^a   Haberlandt, E ^a   Baumann, M ^a   Baumgartner Sigl, S ^a   Fauth, C ^a   Gautsch, K ^a   Karall, D ^a   Janetschek, C ^a   Rostasy, K ^a   Scholl Burgi S ^a   Zotter, S ^a   Utermann, G ^a   Zschocke, J ^a   Kotzot, D ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Deletion; Duplication; Epilepsy; Intellectual disability; SNP array

Indexed keywords

ALU SEQUENCE; ARTICLE; BRACHYCEPHALY; BRACHYDACTYLY; CHILD; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; CORTICAL DYSPLASIA; EPILEPSY; FEBRILE CONVULSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PROMINENT EAR; SEIZURE; TONIC CLONIC SEIZURE; CONGENITAL DISORDER; DNA MICROARRAY; GENETICS; INFANT; KARYOTYPE; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; EPILEPSY; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KARYOTYPE; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84908229737     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12288     Document Type: Article

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