Identification of nine new rai1-truncating mutations in smith-magenis syndrome patients without 17p11.2 deletions

Molecular Syndromology

Volumn 5, Issue 2, 2014, Pages 57-64

  Dubourg, C ^a,b   Bonnet Brilhault, F ^d   Toutain, A ^d   Mignot, C ^e,f   Jacquette, A ^e   Dieux, A ^h   Gerard M ⁱ   Beaumont Epinette, M P ^a   Julia, S ^j   Isidor, B ^k   Rossi, M ^l   Odent, S ^b,c   Bendavid, C ^b   Barthelemy C ^d   Verloes, A ^g   David, V ^a,b  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE RENNES 1   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d CHU BRETONNEAU   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ CHU Clemenceau   (France)

^j CHU PURPAN   (France)

^k NANTES UNIVERSITY HOSPITAL   (France)

^l CHU   (France)

more..

Author keywords

17p11.2; Mutation; RAI1; Smith Magenis syndrome

Indexed keywords

ADENINE; CYTOCHROME P450 2D6; CYTOSINE; DNA; GUANINE; NUCLEOTIDE; RETINOIC ACID INDUCIBLE PROTEIN I; SACCHARIN; THYMINE; LIPID;

ADOLESCENT; ADULT; AGGRESSIVENESS; ALLELE; ANTEVERTED NOSTRIL; AROUSAL; ARTICLE; ASTIGMATISM; AUTOMUTILATION; BEHAVIOR DISORDER; BODY HEIGHT; BODY WEIGHT; BONE DEVELOPMENT; BRACHYCEPHALY; CELL CYCLE REGULATION; CELL GROWTH; CHILD; CHROMOSOME 15; CHROMOSOME 17P; CIRCADIAN RHYTHM; CLINICAL ARTICLE; CLINODACTYLY; COMPARATIVE STUDY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXON; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; FRANCE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYZER; GENETIC ASSOCIATION; GENETIC REGULATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; GLUCOSE METABOLISM; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; HYPERACTIVITY; HYPERMETROPIA; HYPERTELORISM; IMPULSIVENESS; INTERSTITIAL CHROMOSOME DELETION; LIPID METABOLISM; LONG PHILTRUM; MACROCEPHALY; MALE; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; NERVOUS SYSTEM DEVELOPMENT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OBESITY; OVERNUTRITION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP DISORDER; SMITH MAGENIS SYNDROME; SPEECH DELAY; STOP CODON; UPWARD PALPEBRAL SLANT; YOUNG ADULT; BEHAVIOR GENETICS; CLINICAL FEATURE; GENE DELETION; GENE TARGETING; HAPLOINSUFFICIENCY; MUTATIONAL ANALYSIS; MUTATOR GENE; RETINOIC ACID INDUCED 1 GENE; TRANSCRIPTION REGULATION;

EID: 84896266323     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000357359     Document Type: Article

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