Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 3
1997 1
1998 1
1999 1
2003 1
2004 1
2011 1
2014 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
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.
FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions based on the human disease. Recently, Lilliputian(Lilli), a Drosophila FMR2 orthologue, was identified; this gene has been linked with seve …
FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions …
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.
Prenatal diagnosis of Fragile X syndrome using molecular genetic techniques is now a well established procedure, with the only significant problem being the inability to accurately predict phenotype in female fetuses with full mutations. Few prenatal diagnoses of Fragile X …
Prenatal diagnosis of Fragile X syndrome using molecular genetic techniques is now a well established procedure, with the only significant p …
Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.
Ritchie RJ, Chakrabarti L, Knight SJ, Harding RM, Davies KE. Ritchie RJ, et al. Am J Med Genet. 1997 Dec 31;73(4):463-9. doi: 10.1002/(sici)1096-8628(19971231)73:4<463::aid-ajmg16>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9415475
Analysis of the CAG repeat at the Huntington Disease (HD) locus showed a positively skewed repeat distribution leading to the proposal that microsatellites are subject to a mutational bias toward expansion. Such a mutational bias predicts an increase in mean repeat size at …
Analysis of the CAG repeat at the Huntington Disease (HD) locus showed a positively skewed repeat distribution leading to the proposal that …
A candidate gene for mild mental handicap at the FRAXE fragile site.
Chakrabarti L, Knight SJ, Flannery AV, Davies KE. Chakrabarti L, et al. Hum Mol Genet. 1996 Feb;5(2):275-82. doi: 10.1093/hmg/5.2.275. Hum Mol Genet. 1996. PMID: 8824884
The cDNA sequence possesses both a putative start of translation and a poly-A tail. The predicted protein has amino acid motifs which share significant homologies with the human AF-4 gene which encodes a putative transcription factor. ...
The cDNA sequence possesses both a putative start of translation and a poly-A tail. The predicted protein has amino acid motifs which …
Transcription map of Xq27: candidates for several X-linked diseases.
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S. Zucchi I, et al. Genomics. 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. Genomics. 1999. PMID: 10198160
Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate gen …
Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a …
FRA2A is a CGG repeat expansion associated with silencing of AFF3.
Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF. Metsu S, et al. PLoS Genet. 2014 Apr 24;10(4):e1004242. doi: 10.1371/journal.pgen.1004242. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24763282 Free PMC article.
Moreover, bisulfite sequencing and pyrosequencing both suggest AFF3 promoter hypermethylation. cSNP-analysis demonstrates monoallelic expression of the AFF3 gene in FRA2A carriers thus predicting that FRA2A expression results in functional haploinsufficiency for AFF3 at le …
Moreover, bisulfite sequencing and pyrosequencing both suggest AFF3 promoter hypermethylation. cSNP-analysis demonstrates monoallelic expres …
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG. Sahoo T, et al. Am J Med Genet A. 2011 Dec;155A(12):3110-5. doi: 10.1002/ajmg.a.34345. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065534
Both individuals had developmental and speech delay, and one had mild dysmorphism. We predict disruption of AFF2 in these two patients is likely the cause of their overlapping phenotypes....
Both individuals had developmental and speech delay, and one had mild dysmorphism. We predict disruption of AFF2 in these two patient …
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
Meadows KL, Pettay D, Newman J, Hersey J, Ashley AE, Sherman SL. Meadows KL, et al. Am J Med Genet. 1996 Aug 9;64(2):428-33. doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8844098
No difference was found for the FRAXE allele distribution among the two groups. The level of heterozygosity was less than predicted by the allele distribution at both loci. This is probably due to unidentified large alleles among females with a test result of a single band …
No difference was found for the FRAXE allele distribution among the two groups. The level of heterozygosity was less than predicted b …