Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

European Journal of Human Genetics

Volumn 14, Issue 9, 2006, Pages 1009-1017

  Saugier Veber, Pascale ^a,b   Goldenberg, Alice ^a   Drouin Garraud, Valérie ^a   de La Rochebrochard, Céline ^a   Layet, Valérie ^c   Drouot, Nathalie ^a,b   Le Meur, Nathalie ^d   Gilbert Du ssardier, Brigitte ^e   Joly Hélas, Géraldine ^a   Moirot, Hélène ^a   Rossi, Annick ^d   Tosi, Mario ^b   Frébourg, Thierry ^a,b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c LE HAVRE HOSPITAL   (France)

^d ETABLISSEMENT FRANÇAIS DU SANG   (France)

^e POITIERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 22Q; CHROMOSOME 5Q; CHROMOSOME DELETION 5; CONTROLLED STUDY; DISEASE SEVERITY; EPILEPSY; FACE DYSMORPHIA; FEMALE; FRAGILE X SYNDROME; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GROWTH DISORDER; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; OBESITY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETROSPECTIVE STUDY; SOTOS SYNDROME; STRABISMUS;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FRAGILE X SYNDROME; GENE DUPLICATION; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MENTAL RETARDATION; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; TELOMERE;

EID: 33747751247     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201661     Document Type: Article

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