Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Molecular Psychiatry

Volumn 21, Issue 1, 2016, Pages 126-132

  Van Bon, B W M ^a,b   Coe, B P ^c   Bernier, R ^d   Green, C ^e   Gerdts, J ^d   Witherspoon, K ^c   Kleefstra, T ^a   Willemsen, M H ^a   Kumar, R ^b   Bosco, P ^f   Fichera, M ^f,g   Li, D ^h   Amaral, D ^h   Cristofoli, F ⁱ   Peeters, H ^i,j   Haan, E ^b,k   Romano, C ^f   Mefford, H C ^d   Scheffer, I ^e   Gecz, J ^b,k   De Vries, B B A ^a,l   Eichler, E E ^c,d   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f OASI RESEARCH INSTITUTE IRCCS   (Italy)

^g UNIVERSITY OF CATANIA   (Italy)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j UPC KULeuven Campus Gasthuisberg   (Belgium)

^k South Australian Clinical Genetics Service   (Australia)

^l RADBOUD UNIVERSITY   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A; PROTEIN; UNCLASSIFIED DRUG; DYRK KINASE; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTISM; BINDING SITE; CONTROLLED STUDY; EPILEPSY; EXON; FACIAL GESTALT; FEBRILE CONVULSION; FRAMESHIFT MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MICROCEPHALY; MUSCLE HYPERTONIA; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SPEECH DISORDER; STEREOTYPY; STOP CODON; ADOLESCENT; ADULT; CHILD; COHORT ANALYSIS; FEMALE; GENETICS; MALE; MIDDLE AGED; MOTOR DYSFUNCTION; MUTATION; PRESCHOOL CHILD; SIBLING; SYNDROME; YOUNG ADULT;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES; SEIZURES, FEBRILE; SIBLINGS; SPEECH DISORDERS; STEREOTYPIC MOVEMENT DISORDER; SYNDROME; YOUNG ADULT;

EID: 84951908030     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2015.5     Document Type: Article

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