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Results: 1 to 20 of 99

1.

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K.

Hum Mutat. 2013 Jan;34(1):157-66. doi: 10.1002/humu.22177. Epub 2012 Oct 4.

PMID:
22887750
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K.

Gene. 2007 Jun 15;395(1-2):125-34. Epub 2007 Mar 16.

PMID:
17442505
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.

PMID:
20168238
[PubMed - indexed for MEDLINE]
4.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.

PMID:
23560306
[PubMed - indexed for MEDLINE]
5.

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.

Entezam A, Usdin K.

Nucleic Acids Res. 2008 Feb;36(3):1050-6. Epub 2007 Dec 26.

PMID:
18160412
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

Cunningham CL, Martínez Cerdeño V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC.

Hum Mol Genet. 2011 Jan 1;20(1):64-79. doi: 10.1093/hmg/ddq432. Epub 2010 Oct 8.

PMID:
20935171
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat.

Sofola OA, Jin P, Botas J, Nelson DL.

Hum Mol Genet. 2007 Oct 1;16(19):2326-32. Epub 2007 Jul 17.

PMID:
17635840
[PubMed - indexed for MEDLINE]
Free Article
8.

Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.

Bittel DC, Kibiryeva N, Butler MG.

Genet Med. 2007 Jul;9(7):464-72.

PMID:
17666893
[PubMed - indexed for MEDLINE]
9.

Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation.

Berman RF, Murray KD, Arque G, Hunsaker MR, Wenzel HJ.

Epilepsia. 2012 Jun;53 Suppl 1:150-60. doi: 10.1111/j.1528-1167.2012.03486.x.

PMID:
22612820
[PubMed - indexed for MEDLINE]
10.

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.

Lu C, Lin L, Tan H, Wu H, Sherman SL, Gao F, Jin P, Chen D.

Hum Mol Genet. 2012 Dec 1;21(23):5039-47. doi: 10.1093/hmg/dds348. Epub 2012 Aug 21.

PMID:
22914733
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

Kenneson A, Zhang F, Hagedorn CH, Warren ST.

Hum Mol Genet. 2001 Jul 1;10(14):1449-54.

PMID:
11448936
[PubMed - indexed for MEDLINE]
Free Article
12.

The Fragile X premutation: new insights and clinical consequences.

Van Esch H.

Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. Epub 2005 Dec 5. Review.

PMID:
16473304
[PubMed - indexed for MEDLINE]
13.

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F.

J Med Genet. 2007 Mar;44(3):200-4. Epub 2006 Aug 11.

PMID:
16905681
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ.

Am J Med Genet. 2000 Sep 18;94(3):232-6.

PMID:
10995510
[PubMed - indexed for MEDLINE]
15.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

PMID:
10773084
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL.

Am J Hum Genet. 2003 Feb;72(2):454-64. Epub 2003 Jan 14.

PMID:
12529854
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Transcription of the FMR1 gene in individuals with fragile X syndrome.

Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ.

Am J Med Genet. 2000 Fall;97(3):195-203.

PMID:
11449488
[PubMed - indexed for MEDLINE]
18.

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F.

Genet Med. 2012 Aug;14(8):729-36. doi: 10.1038/gim.2012.34. Epub 2012 Apr 12.

PMID:
22498846
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. Epub 2007 Dec 5.

PMID:
18057320
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ.

Hum Mol Genet. 2010 Jan 15;19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.

PMID:
19864489
[PubMed - indexed for MEDLINE]
Free PMC Article

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