Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

Journal of Medical Genetics

Volumn 46, Issue 12, 2009, Pages 818-824

  Sevin M ^a   Kutalik, Z ^b,c   Bergman, S ^b,c   Vercelletto, M ^a   Renou, P ^a   Lamy, E ^a   Vingerhoets, F J ^d   Di Virgilio, G ^d   Boisseau, P ^a   Bezieau, S ^a   Pasquier, L ^e   Rival, J M ^a   Beckmann, J S ^b,d   Damier, P ^a   Jacquemont, S ^d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE CARRIER; EDUCATIONAL STATUS; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MATTIS DEMENTIA RATING SCALE; MUTATION; PENETRANCE; PREMUTATION; PRIORITY JOURNAL; RATING SCALE; RISK FACTOR; STATISTICAL MODEL;

ALLELES; BLOTTING, SOUTHERN; COGNITION DISORDERS; DNA; DOUBLE-BLIND METHOD; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PENETRANCE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 72749101714     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.065953     Document Type: Article

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