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Year Number of Results
1994 2
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2012 1
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Rare fragile sites.
Sutherland GR. Sutherland GR. Cytogenet Genome Res. 2003;100(1-4):77-84. doi: 10.1159/000072840. Cytogenet Genome Res. 2003. PMID: 14526166 Review.
The folate insensitive fragile sites have more complex longer repeat elements. Only two rare fragile sites (FRAXA and FRAXE) are of unequivocal clinical significance in that they are associated with intellectual disability....
The folate insensitive fragile sites have more complex longer repeat elements. Only two rare fragile sites (FRAXA and FRAXE) are of u …
Dynamic mutations: where are they now?
van Eyk CL, Richards RI. van Eyk CL, et al. Adv Exp Med Biol. 2012;769:55-77. Adv Exp Med Biol. 2012. PMID: 23560305 Review.
The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), a number of spinocerebellar ataxias (SCAs), oculopharyngeal muscular …
The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes Huntington's disease (HD), spinobulbar …
Trinucleotide repeats in neurogenetic disorders.
Paulson HL, Fischbeck KH. Paulson HL, et al. Annu Rev Neurosci. 1996;19:79-107. doi: 10.1146/annurev.ne.19.030196.000455. Annu Rev Neurosci. 1996. PMID: 8833437 Review.
To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type I, dentato …
To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FR
Human chromosome fragility.
Lukusa T, Fryns JP. Lukusa T, et al. Biochim Biophys Acta. 2008 Jan;1779(1):3-16. doi: 10.1016/j.bbagrm.2007.10.005. Epub 2007 Dec 3. Biochim Biophys Acta. 2008. PMID: 18078840 Review.
Seven folate sensitive (FRA10A, FRA11B, FRA12A, FRA16A, FRAXA, FRAXE and FRAXF) and two non-folate sensitive (FRA10B and FRA16B) fragile sites have been molecularly characterized. ...Mental retardation in this syndrome is considered as resulting from the abolition of the F …
Seven folate sensitive (FRA10A, FRA11B, FRA12A, FRA16A, FRAXA, FRAXE and FRAXF) and two non-folate sensitive (FRA10B and FRA16B) frag …
Fragile sites and human disease.
Debacker K, Kooy RF. Debacker K, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R150-8. doi: 10.1093/hmg/ddm136. Epub 2007 Jun 13. Hum Mol Genet. 2007. PMID: 17567780 Review.
In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and mental retardation has been proposed many years ago, but after the molecular cloning of FRAXA and FRAXE both unequivocally involved in …
In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and me …
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.
Gecz J. Gecz J. Ann Hum Genet. 2000 Mar;64(Pt 2):95-106. doi: 10.1017/S0003480000007983. Ann Hum Genet. 2000. PMID: 11246464 Review.
FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50< IQ< 85). ...Hyperexpansion of the FRAXE CCG repeat silences transcription of the gene. The structure of
FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to
XLMR genes: update 1996.
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. Lubs HA, et al. Am J Med Genet. 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826465 Review.
Of the current 105 XLMR disorders, 34 have been mapped, and 18 disorders and 1 nonspecific XLMR (FRAXE) have been cloned. The number of families with nonspecific XLMR with a LOD score of > or = 2.0 has more than doubled, with 42 (including FRAXE) now being known. …
Of the current 105 XLMR disorders, 34 have been mapped, and 18 disorders and 1 nonspecific XLMR (FRAXE) have been cloned. The number …
FMR2 function: insight from a mouse knockout model.
Gu Y, Nelson DL. Gu Y, et al. Cytogenet Genome Res. 2003;100(1-4):129-39. doi: 10.1159/000072847. Cytogenet Genome Res. 2003. PMID: 14526173 Review.
The FMR2 gene is dysregulated by the fragile X E triplet repeat expansion in patients with FRAXE mental retardation syndrome. A CCG triplet, located in the 5' untranslated region of the FRAXE gene undergoes expansion and methylation in these patients, eliminating de …
The FMR2 gene is dysregulated by the fragile X E triplet repeat expansion in patients with FRAXE mental retardation syndrome. A CCG t …
Trinucleotide repeat expansions and human genetic disease.
Bates G, Lehrach H. Bates G, et al. Bioessays. 1994 Apr;16(4):277-84. doi: 10.1002/bies.950160411. Bioessays. 1994. PMID: 8031305 Review.
The cloning of two regions at which chromosome breakage can be induced (FRAXA and FRAXE) has in each case uncovered an unstable CG-rich triplet repeat which becomes methylated when fully expanded. ...
The cloning of two regions at which chromosome breakage can be induced (FRAXA and FRAXE) has in each case uncovered an unstable CG-ri …
Chromatin remodeling in the noncoding repeat expansion diseases.
Kumari D, Usdin K. Kumari D, et al. J Biol Chem. 2009 Mar 20;284(12):7413-7. doi: 10.1074/jbc.R800026200. Epub 2008 Oct 28. J Biol Chem. 2009. PMID: 18957431 Free PMC article. Review.
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. ...
Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, an …
24 results