Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

European Journal of Human Genetics

Volumn 24, Issue 3, 2016, Pages 373-380

  Moey, Ching ^a   Hinze, Susan J ^a   Brueton, Louise ^b   Morton, Jenny ^b   McMullan, Dominic J ^c   Kamien, Benjamin ^d   Barnett, Christopher P ^e   Brunetti Pierri, Nicola ^f,g   Nicholl, Jillian ^h   Gecz, Jozef ^a   Shoubridge, Cheryl ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c West Midlands Regional Genetics Laboratory   (United Kingdom)

^d Hunter Genetics   (Australia)

^e South Australian Clinical Genetics Service   (Australia)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^h SA PATHOLOGY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HECT UBA AND WWE DOMAIN CONTAINING 1 E3 UBIQUITN PROTEIN; IQ MOTIF AND SEC7 DOMAIN 2 PROTEIN; LYSINE (K) SPECIFIC DEMETHYLASE 5C; MESSENGER RNA; PROTEIN; TESTIS SPECIFIC PROTEIN Y ENCODED LIKE 2; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HISTONE DEMETHYLASE; IQSEC2 PROTEIN, HUMAN; KDM5C PROTEIN, HUMAN; NONHISTONE PROTEIN; NUCLEAR PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1; TSPYL2 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME XP; CHROMOSOME XP11.2; CHROMOSOME XP11.2 DUPLICATION; CLINICAL FEATURE; COMPUTER MODEL; CONTROLLED STUDY; COPY NUMBER VARIATION; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LYMPHOBLASTOID CELL LINE; MALE; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SPEECH DELAY; X CHROMOSOME; X CHROMOSOME INACTIVATION; BEHAVIOR; GENE EXPRESSION REGULATION; GENETICS; INFANT; MENTAL DISEASE; METABOLISM; NEWBORN; PEDIGREE; YOUNG ADULT;

ADOLESCENT; BEHAVIOR; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; FEMALE; GENE EXPRESSION REGULATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HISTONE DEMETHYLASES; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; NEURODEVELOPMENTAL DISORDERS; NUCLEAR PROTEINS; PEDIGREE; RNA, MESSENGER; YOUNG ADULT;

EID: 84958118985     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.123     Document Type: Article

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