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Items: 1 to 20 of 200

1.

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.

2.

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.

Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG.

Am J Med Genet A. 2013 Apr;161A(4):771-8. doi: 10.1002/ajmg.a.35833. Epub 2013 Feb 26.

3.

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F.

PLoS One. 2011;6(7):e21728. doi: 10.1371/journal.pone.0021728. Epub 2011 Jul 19.

4.

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.

Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, Blatt E, Sah S, Latham GJ, Hadd AG.

Genet Med. 2015 May;17(5):358-64. doi: 10.1038/gim.2014.106. Epub 2014 Sep 11.

PMID:
25210937
5.

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.

6.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F.

J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30.

7.

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Hum Mutat. 2017 Mar;38(3):324-331. doi: 10.1002/humu.23150. Epub 2017 Jan 17.

PMID:
27883256
8.

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F.

J Mol Diagn. 2009 Jul;11(4):306-10. doi: 10.2353/jmoldx.2009.080174. Epub 2009 Jun 12.

9.

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Weiss K, Orr-Urtreger A, Kaplan Ber I, Naiman T, Shomrat R, Bardugu E, Yaron Y, Ben-Shachar S.

Genet Med. 2014 Dec;16(12):940-4. doi: 10.1038/gim.2014.64. Epub 2014 May 29.

PMID:
24875300
10.

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL.

Hum Mol Genet. 1996 Mar;5(3):319-30.

PMID:
8852655
11.

Maternal FMR1 premutation allele expansion and contraction in fraternal twins.

Alfaro MP, Cohen M, Vnencak-Jones CL.

Am J Med Genet A. 2013 Oct;161A(10):2620-5. doi: 10.1002/ajmg.a.36123. Epub 2013 Aug 15.

PMID:
23949867
12.

Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.

Chowdhury MR, Chauhan S, Dabral A, Thelma BK, Gupta N, Kabra M.

J Child Neurol. 2017 Mar;32(4):371-378. doi: 10.1177/0883073816683075. Epub 2016 Dec 20.

PMID:
28193118
13.

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

Yrigollen CM, Mendoza-Morales G, Hagerman R, Tassone F.

J Hum Genet. 2013 Aug;58(8):553-9. doi: 10.1038/jhg.2013.50. Epub 2013 Jun 6.

14.

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL.

Hum Mol Genet. 1995 Dec;4(12):2199-208.

PMID:
8634688
15.

AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.

Volle CB, Delaney S.

BMC Biochem. 2013 Nov 22;14:33. doi: 10.1186/1471-2091-14-33.

16.

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S.

Obstet Gynecol. 2008 Mar;111(3):596-601. doi: 10.1097/AOG.0b013e318163be0b.

PMID:
18310361
17.
18.

FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.

Sølvsten C, Nielsen AL.

Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.

PMID:
21767618
19.

AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.

Poon PM, Chen QL, Zhong N, Lam ST, Lai KY, Wong CK, Pang CP.

Clin Biochem. 2006 Mar;39(3):244-8. Epub 2005 Dec 7.

PMID:
16337617
20.

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN.

Hum Mol Genet. 1994 Sep;3(9):1543-51.

PMID:
7833909

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