CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Human Genetics

Volumn 128, Issue 3, 2010, Pages 281-291

  Mukhopadhyay, Arijit ^a,b   Kramer, Jamie M ^a,c,d   Merkx, Gerard ^a   Lugtenberg, Dorien ^a   Smeets, Dominique F ^a   Oortveld, Merel A W ^c,d   Blokland, Ellen A W ^a   Agrawal, Jyoti ^b   Schenck, Annette ^c,d   Van Bokhoven, Hans ^a,c,d   Huys, Erik ^a   Schoenmakers, Eric F ^a   Van Kessel, Ad Geurts ^a   Van Nouhuys, C Erik ^e   Cremers, Frans P M ^a,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e CANISIUS WILHELMINA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT PROTEIN KINASE 19; UNCLASSIFIED DRUG; CDK11A PROTEIN, HUMAN; CDK8 PROTEIN, DROSOPHILA; CYCLIN DEPENDENT KINASE 8; DROSOPHILA PROTEIN; PRIMER DNA;

ARTICLE; BRAIN; CELL STRUCTURE; CELL TRANSFORMATION; CHROMOSOME 6; CHROMOSOME 6P; CHROMOSOME 6Q; CLINICAL ASSESSMENT; DENDRITE; DENDRITIC CELL; DROSOPHILA; EPSTEIN BARR VIRUS; EYE DEVELOPMENT; FLUORESCENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GONIOSCOPY; HAPLOTYPE; HUMAN; IN SITU HYBRIDIZATION; INHERITANCE; KARYOTYPING; LYMPHOBLASTOID CELL; LYMPHOBLASTOID CELL LINE; MEDIATOR; MENTAL DEFICIENCY; MICROCEPHALY; MUTANT; NERVE CELL; NERVOUS SYSTEM; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETINA FOLD; ADULT; ANIMAL; CASE REPORT; CHROMOSOME INVERSION; FEMALE; GENETICS; GROWTH, DEVELOPMENT AND AGING; INTELLECTUAL IMPAIRMENT; MULTIPLE MALFORMATION SYNDROME; RETINA; SPECIES DIFFERENCE;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; BASE SEQUENCE; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 6; CYCLIN-DEPENDENT KINASE 8; CYCLIN-DEPENDENT KINASES; DNA PRIMERS; DROSOPHILA; DROSOPHILA PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; MICROCEPHALY; RETINA; SPECIES SPECIFICITY; INTELLECTUAL DISABILITY;

HUMAN HERPESVIRUS 4;

EID: 77956062627     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0848-x     Document Type: Article

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