Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Human Mutation

Volumn 32, Issue 7, 2011, Pages 853-859

  Nillesen, Willy M ^a   Yntema, Helger G ^a   Moscarda, Marco ^b   Verbeek, Nienke E ^c   Wilson, Louise C ^d   Cowan, Frances ^e   Schepens, Marga ^a   Raas Rothschild, Annick ^f   Gafni Weinstein, Orly ^f   Zollino, Marcella ^b   Vijzelaar, Raymon ^g   Neri, Giovanni ^b   Nelen, Marcel ^a,c   Bokhoven, Hans Van ^a   Giltay, Jacques ^c   Kleefstra, Tjitske ^a  

^a RUNMC   (Netherlands)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g MRC HOLLAND   (Netherlands)

Author keywords

9qSTDS; Chromosome 9q; EHMT1; Kleefstra syndrome; Subtelomere deletion

Indexed keywords

HISTONE METHYLTRANSFERASE; PROTEIN; PROTEIN ARRDC1; PROTEIN EHMT1; PROTEIN MRPL41; PROTEIN NELF; PROTEIN NOXA; PROTEIN WDR85; PROTEIN ZMYN19; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CHILD; CHROMOSOME 9Q; CHROMOSOME DELETION; CODON; CONTROLLED STUDY; EXON; GENE DELETION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; INTRON; KLEEFSTRA SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

5' UNTRANSLATED REGIONS; ADULT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FACIES; FEMALE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; MENTAL RETARDATION; MUSCLE HYPOTONIA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION; SYNDROME;

EID: 79959738779     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21523     Document Type: Article

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