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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 …
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 …
DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome.
Chan SY, Wong V. Chan SY, et al. Clin Genet. 1998 Mar;53(3):179-83. doi: 10.1111/j.1399-0004.1998.tb02673.x. Clin Genet. 1998. PMID: 9630071
In group 1, 3 families (2 mothers and a mother and her son) were found to carry a small premutation allele at FRAXA (premutation frequency = 2%, 3/153 independent X chromosomes), but none had any expansion at FRAXE. In group 2, all 5 FraX boys had full mutation at FRAXA an …
In group 1, 3 families (2 mothers and a mother and her son) were found to carry a small premutation allele at FRAXA (premutation frequency = …
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
Liu T, Wang FS, Cheah FSH, Gu Y, Shaw M, Law HY, Tay SKH, Lee CG, Nelson DL, Gecz J, Chong SS. Liu T, et al. J Mol Diagn. 2021 Aug;23(8):941-951. doi: 10.1016/j.jmoldx.2021.04.015. Epub 2021 Jun 7. J Mol Diagn. 2021. PMID: 34111553 Free article.
Moderate to hyper-expansion of trinucleotide repeats at the FRAXA and FRAXE fragile sites, with or without concurrent hypermethylation, has been associated with intellectual disability and other conditions. ...Population samples and FRAXE-affected samples were seque …
Moderate to hyper-expansion of trinucleotide repeats at the FRAXA and FRAXE fragile sites, with or without concurrent hypermethylatio …
A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs.
Strelnikov V, Nemtsova M, Chesnokova G, Kuleshov N, Zaletayev D. Strelnikov V, et al. Hum Mutat. 1999;13(2):166-9. doi: 10.1002/(SICI)1098-1004(1999)13:2<166::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1999. PMID: 10094554
FRAXA, FRAXE, and FRAXF are folate-sensitive fragile sites originally discovered in patients with X-linked mental retardation. The FMR1 gene, whose first exon includes the FRAXA site on Xq27.3, accounts for 15-20% of all X-linked forms of mental retardation. Loss of expres …
FRAXA, FRAXE, and FRAXF are folate-sensitive fragile sites originally discovered in patients with X-linked mental retardation. The FM …
FRAXA and FRAXE: the results of a five year survey.
Youings SA, Murray A, Dennis N, Ennis S, Lewis C, McKechnie N, Pound M, Sharrock A, Jacobs P. Youings SA, et al. J Med Genet. 2000 Jun;37(6):415-21. doi: 10.1136/jmg.37.6.415. J Med Genet. 2000. PMID: 10851251 Free PMC article.
We tested 3738 boys and 2968 mothers and found 20 FRAXA and one FRAXE full mutations among the boys and none among the mothers. This gives an estimated prevalence of full mutations in males of 1 in 5530 for FRAXA and 1 in 23 423 for FRAXE. We found an excess of inte …
We tested 3738 boys and 2968 mothers and found 20 FRAXA and one FRAXE full mutations among the boys and none among the mothers. This …
Fragile X syndrome and fragile XE mental retardation.
Sutherland GR, Mulley JC. Sutherland GR, et al. Prenat Diagn. 1996 Dec;16(13):1199-211. doi: 10.1002/(SICI)1097-0223(199612)16:13<1199::AID-PD95>3.0.CO;2-T. Prenat Diagn. 1996. PMID: 9061751 Review.
The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated with FRAXE. The cytogenetics of these fragile sites is considered. For Fragile X syndrome details are given of the molecular genetics, i …
The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated wit …
Identification of the gene FMR2, associated with FRAXE mental retardation.
Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Gecz J, et al. Nat Genet. 1996 May;13(1):105-8. doi: 10.1038/ng0596-105. Nat Genet. 1996. PMID: 8673085
Normal alleles vary from 6 to 25 copies. Expansions of greater than 200 copies were found in FRAXE expressing males and their FRAXE associated CpG island was fully methylated. ...We correlate loss of FMR2 expression with (CCG)n expansion at FRAXE, demonstrati …
Normal alleles vary from 6 to 25 copies. Expansions of greater than 200 copies were found in FRAXE expressing males and their FRAX …
FRAXE mutation analysis in three Spanish families.
Carbonell P, López I, Gabarrón J, Bernabé MJ, Lucas JM, Guitart M, Gabau E, Glover G. Carbonell P, et al. Am J Med Genet. 1996 Aug 9;64(2):434-40. doi: 10.1002/(SICI)1096-8628(19960809)64:2<434::AID-AJMG40>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8844099
We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA fr …
We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE …
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
Knight SJ, Ritchie RJ, Chakrabarti L, Cross G, Taylor GR, Mueller RF, Hurst J, Paterson J, Yates JR, Dow DJ, Davies KE. Knight SJ, et al. Am J Hum Genet. 1996 May;58(5):906-13. Am J Hum Genet. 1996. PMID: 8651274 Free PMC article.
The exact incidence of FRAXE mental retardation is uncertain. We describe here the results of a U.K. survey designed to assess the frequency of FRAXE in a population of individuals referred for fragile X syndrome testing and found to be negative for expansion events …
The exact incidence of FRAXE mental retardation is uncertain. We describe here the results of a U.K. survey designed to assess the fr …
51 results