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1995 2
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Page 1
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 …
Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.
Costa A, Gao L, Carrillo F, Cáceres-Redondo MT, Carballo M, Díaz-Martín J, Gómez-Garre P, Sobrino F, Lucas M, López-Barneo J, Mir P, Pintado E. Costa A, et al. Parkinsonism Relat Disord. 2011 May;17(4):281-4. doi: 10.1016/j.parkreldis.2010.12.013. Epub 2011 Jan 22. Parkinsonism Relat Disord. 2011. PMID: 21257332
All subjects were screened for the size of CGG and CCG repeats at the FRAXA and FRAXE loci, respectively. Clinical features of each patient were examined in detail to study possible association between these features and genotype. RESULTS: Frequencies of FRAXA and FRAXE …
All subjects were screened for the size of CGG and CCG repeats at the FRAXA and FRAXE loci, respectively. Clinical features of each p …
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 …
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 = …
FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.
Teague JW, Morton NE, Dennis NR, Curtis G, McKechnie N, Macpherson JN, Murray A, Pound MC, Sharrock AJ, Youings SA, Jacobs PA. Teague JW, et al. Proc Natl Acad Sci U S A. 1998 Jan 20;95(2):719-24. doi: 10.1073/pnas.95.2.719. Proc Natl Acad Sci U S A. 1998. PMID: 9435259 Free PMC article.
There have been several claims of segregation distortion (meiotic drive) for loci associated with diseases caused by trinucleotide repeats, leading us to test for this phenomenon in a large study of the X-linked loci FRAXA and FRAXE. We found no evidence of meiotic drive i …
There have been several claims of segregation distortion (meiotic drive) for loci associated with diseases caused by trinucleotide repeats, …
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 …
Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat.
Santos-Rebouças CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gécz J. Santos-Rebouças CB, et al. Neurosci Lett. 2006 Apr 24;397(3):245-8. doi: 10.1016/j.neulet.2005.12.089. Epub 2006 Feb 15. Neurosci Lett. 2006. PMID: 16469443
FRAXE fragile site associated mental retardation (FRAXE MR) belongs to a group of non-syndromic X-linked mental retardation. ...So far all individuals with FRAXE CCG repeat expansions and cytogenetically detectable FRAXE fragile site have both FMR2 and …
FRAXE fragile site associated mental retardation (FRAXE MR) belongs to a group of non-syndromic X-linked mental retardation. . …
Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.
Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, Jorge P. Silva C, et al. Sci Rep. 2021 Jul 19;11(1):14676. doi: 10.1038/s41598-021-93473-5. Sci Rep. 2021. PMID: 34282157 Free PMC article.
Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The absence of FRAXE pathognomonic features hampers early recognition, delaying …
Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE …
Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.
Brown TC, Tarleton JC, Go RC, Longshore JW, Descartes M. Brown TC, et al. Am J Med Genet. 1997 Dec 31;73(4):447-55. doi: 10.1002/(sici)1096-8628(19971231)73:4<447::aid-ajmg14>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9415473
Thirty-four FMR2 alleles ranging from 3-42 repeats were identified. No FRAXE expansions were found in this population, supporting previous findings that FRAXE expansions are rare. However, in the fragile X syndrome affected group, a FMR2 delection, 2 cases of FRA …
Thirty-four FMR2 alleles ranging from 3-42 repeats were identified. No FRAXE expansions were found in this population, supporting pre …
35 results