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FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
Genet Epidemiol. 1998;15(1):103-9. doi: 10.1002/(SICI)1098-2272(1998)15:1<103::AID-GEPI8>3.0.CO;2-8.
Genet Epidemiol. 1998.
PMID: 9523214
Clinical Trial.
Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. ...Five FRAXA-positive children (1.15%) were identified, of whom four were found to carry a full mutation and one a premutation. Furthermore w …
Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. .. …
Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.
Subramanian PS, Nelson DL, Chinault AC.
Subramanian PS, et al.
Am J Hum Genet. 1996 Aug;59(2):407-16.
Am J Hum Genet. 1996.
PMID: 8755928
Free PMC article.
In all individuals with a full expansion of the trinucleotide repeat, a large (1-1.2-Mb) region of delayed timing was observed; the apparent timing of the earlier-replicating allele in female cells in this region was intermediate between normal and affected alleles in males, whic …
In all individuals with a full expansion of the trinucleotide repeat, a large (1-1.2-Mb) region of delayed timing was observed; the apparent …
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL.
Probst FJ, et al.
Am J Med Genet A. 2007 Jun 15;143A(12):1358-65. doi: 10.1002/ajmg.a.31781.
Am J Med Genet A. 2007.
PMID: 17506108
Chromosomal microarray analysis (CMA) by array-based comparative genomic hybridization (CGH) is a new clinical test for the detection of well-characterized genomic disorders caused by chromosomal deletions and duplications that result in gene copy number variation (CNV). . …
Chromosomal microarray analysis (CMA) by array-based comparative genomic hybridization (CGH) is a new clinical test for the detection …
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Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.
Wang Q, Green E, Barnicoat A, Garrett D, Mullarkey M, Bobrow M, Mathew CG.
Wang Q, et al.
Lancet. 1993 Oct 23;342(8878):1025-6. doi: 10.1016/0140-6736(93)92882-t.
Lancet. 1993.
PMID: 8105267
Clinical Trial.
We compared the two methods in 525 routine referrals. 12 cases were positive in both tests. 1 case that had a negative DNA test for the fragile site at Xq27.3 (FRAXA), but a positive cytogenetic result, was shown to be caused by a mutation at the FRAXE locus on chromosome …
We compared the two methods in 525 routine referrals. 12 cases were positive in both tests. 1 case that had a negative DNA test for the frag …
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