Clinical utility gene card for: Fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

European Journal of Human Genetics

Volumn 19, Issue 9, 2011, Pages 1017-

  Jacquemont, Sebastien ^a   Birnbaum, Stefanie ^b   Redler, Silke ^b   Steinbach, Peter ^c   Biancalana, Valérie ^d,e  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d HÔPITAL CIVIL   (France)

^e UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA; FMR1 PROTEIN, HUMAN;

ALLELE; ARTICLE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ETHNIC GROUP; FAMILY HISTORY; FRAGILE X ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; GENETIC COUNSELING; GENETIC DATABASE; GENETIC SCREENING; GENOTYPE; HUMAN; INCIDENCE; MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY ANALYSIS; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION; ATAXIA; FEMALE; FRAGILE X SYNDROME; GENETICS; MALE; PREMATURE OVARIAN FAILURE; SENSITIVITY AND SPECIFICITY; SYNDROME; TREMOR; TRINUCLEOTIDE REPEAT;

ATAXIA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; PRIMARY OVARIAN INSUFFICIENCY; SENSITIVITY AND SPECIFICITY; SYNDROME; TREMOR; TRINUCLEOTIDE REPEATS;

EID: 80052036864     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.55     Document Type: Article

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