KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

European Journal of Medical Genetics

Volumn 57, Issue 4, 2014, Pages 138-144

  Gonçalves, Thainá Fernandez ^a   Gonçalves, Andressa Pereira ^a   Fintelman Rodrigues, Natalia ^a   dos Santos, Jussara Mendonça ^a   Pimentel, Márcia Mattos Gonçalves ^a   Santos Rebouças, Cíntia Barros ^a  

^a STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

Chromatin remodeling; Epigenetics; Histone demethylase; JARID1C; KDM5C; X linked intellectual disability

Indexed keywords

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CHILD; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DNA FLANKING REGION; ENHANCER REGION; EXON; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; KDM5C GENE; MAJOR CLINICAL STUDY; MALE; MEDICAL LITERATURE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PREVALENCE; X CHROMOSOMAL INHERITANCE; EPIDEMIOLOGY; FAMILY HEALTH; FEMALE; GENETICS; INTELLECTUAL DISABILITY; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

EUKARYOTA;

KDM5C PROTEIN, HUMAN; N DEMETHYLASE;

ADOLESCENT; ADULT; BASE SEQUENCE; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENES, X-LINKED; GENETIC TESTING; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES, N-DEMETHYLATING; PEDIGREE; PREVALENCE; YOUNG ADULT;

EID: 84898492246     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.02.011     Document Type: Article

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