|1.||Melko, Mireille: 4 articles (08/2013 - 03/2009)|
|2.||Bardoni, Barbara: 4 articles (08/2013 - 03/2009)|
|3.||Gecz, Jozef: 3 articles (08/2013 - 03/2009)|
|4.||Nelson, David L: 3 articles (10/2007 - 04/2002)|
|5.||Shaffer, Lisa G: 2 articles (12/2011 - 04/2003)|
|6.||Bensaid, Mounia: 2 articles (05/2011 - 03/2009)|
|7.||Bitoun, Emmanuelle: 2 articles (01/2007 - 01/2005)|
|8.||Zaletaev, D V: 2 articles (03/2004 - 03/2003)|
|9.||Nemtsova, M V: 2 articles (03/2004 - 03/2003)|
|10.||Zemliakova, V V: 2 articles (03/2004 - 03/2003)|
|1.||Mental Retardation (Idiocy)
01/01/2007 - "Since these activities likely extend to the entire ALF protein family, this study also significantly inputs our understanding of the molecular basis of FRAXE mental retardation syndrome in which FMR2 expression is silenced."
01/01/2003 - "This review presents what has been learned thus far from the FMR2 knockout mouse model and suggests future studies on this model in order to compare it with the human FRAXE mental retardation disorder, Lilli mutants in Drosophila and other mouse models of genes in this family."
09/01/2000 - "If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation."
09/01/2000 - "The objective of this study was to describe the characteristic EEG pattern found in one patient with FRAXE mental retardation. "
01/01/2000 - "The aim of this population screening study was to determine if Fra-X or FRAXE mutations are the cause of a number of cases of mental retardation in a sample of Mexican children with mental retardation of unknown cause (MRUC) and to stress the importance of performing molecular analysis of the FMR-1 gene in all patients with MRUC. "
|2.||Fragile X Syndrome (Martin Bell Syndrome)
05/01/1996 - "A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom."
01/01/2004 - "Twenty patients (11%) were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. "
09/01/2003 - "Both fragile X (FRAXA) syndrome and fragile XE (FRAXE) disorder are caused by an expansion of a polymorphic trinucleotide repeat and are associated with mental impairment. "
08/01/2001 - "FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. "
12/31/1997 - "However, in the fragile X syndrome affected group, a FMR2 delection, 2 cases of FRAXE repeat instability and a FRAXE mosaic male were identified. "
|3.||Primary Ovarian Insufficiency
|4.||Inborn Errors Metabolism (Inborn Errors of Metabolism)
|5.||Myotonic Dystrophy (Dystrophia Myotonica)
09/01/2012 - "The CCG repeats are associated with three tri-nucleotide repeat disorders: Huntington's disease, myotonic dystrophy type 1 and chromosome X-linked mental retardation (FRAXE). "
03/20/2009 - "Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and FRA12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts. "
11/01/1995 - "The expansion of trinucleotide repeats causes the development of at least seven hereditary diseases which damage the nervous system: the fragile X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE), myotonic dystrophy, spinal and bulbar Kennedy's amyotrophy, Huntington's chorea, type 1 spinocerebellar ataxia, and dentatorubral-pallidolyusian atrophy. "
01/01/1994 - "The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases. "
12/01/1994 - "At least seven disorders result from trinucleotide repeat expansion: X-linked spinal and bulbar muscular atrophy (SBMA), two fragile X syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1 (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). "
|1.||Folic Acid (Vitamin M)
|2.||RNA-Binding Proteins (RNA-Binding Protein)
|3.||Proteins (Proteins, Gene)
|4.||DNA (Deoxyribonucleic Acid)
|5.||5' Untranslated Regions (5' UTR)
|6.||Transcription Factors (Transcription Factor)
|8.||RNA (Ribonucleic Acid)
|1.||Institutionalization (Institutionalized Persons)