Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected smith-magenis syndrome without the 17p11.2 deletion

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Vilboux, Thierry ^a   Ciccone, Carla ^a   Blancato, Jan K ^b   Cox, Gerald F ^c,e   Deshpande, Charu ^d   Introne, Wendy J ^a   Gahl, William A ^a   Smith, Ann C M ^a   Huizing, Marjan ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d GUY S HOSPITAL   (United Kingdom)

^e GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RAI1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CARDIOVASCULAR DISEASE; CAUCASIAN; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EYE DISEASE; FEMALE; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; HAPLOTYPE; HEARING LOSS; HOARSENESS; HUMAN; IMMUNOPATHOLOGY; KIDNEY DISEASE; MALE; MARKER GENE; MENTAL DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; PHENOTYPE; POLYEMBOLOKOILOMANIA; RAI1 GENE; RNA ANALYSIS; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; CHROMOSOME 17; COPY NUMBER VARIATION; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS;

EID: 79961203625     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022861     Document Type: Article

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