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Items: 1 to 20 of 38


Recent advances in assays for the fragile X-related disorders.

Hayward BE, Kumari D, Usdin K.

Hum Genet. 2017 Oct;136(10):1313-1327. doi: 10.1007/s00439-017-1840-5. Epub 2017 Sep 2. Review.


FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.


CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.

Brykczynska U, Pecho-Vrieseling E, Thiemeyer A, Klein J, Fruh I, Doll T, Manneville C, Fuchs S, Iazeolla M, Beibel M, Roma G, Naumann U, Kelley N, Oakeley EJ, Mueller M, Gomez-Mancilla B, Bühler M, Tabolacci E, Chiurazzi P, Neri G, Bouwmeester T, Di Giorgio FP, Fodor BD.

Stem Cell Reports. 2016 Dec 13;7(6):1059-1071. doi: 10.1016/j.stemcr.2016.10.004. Epub 2016 Nov 10.


CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.

Zhou Y, Kumari D, Sciascia N, Usdin K.

Mol Autism. 2016 Oct 6;7:42. eCollection 2016.


Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells.

Mor-Shaked H, Eiges R.

Genes (Basel). 2016 Sep 28;7(10). pii: E77. Review.


Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome.

Tabolacci E, Palumbo F, Nobile V, Neri G.

Genes (Basel). 2016 Aug 17;7(8). pii: E49. doi: 10.3390/genes7080049. Review.


Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.

Li M, Zhao H, Ananiev GE, Musser MT, Ness KH, Maglaque DL, Saha K, Bhattacharyya A, Zhao X.

Stem Cells. 2017 Jan;35(1):158-169. doi: 10.1002/stem.2463. Epub 2016 Jul 27.


Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.

Tabolacci E, Mancano G, Lanni S, Palumbo F, Goracci M, Ferrè F, Helmer-Citterich M, Neri G.

Epigenetics Chromatin. 2016 Mar 24;9:12. doi: 10.1186/s13072-016-0060-x. eCollection 2016.


Human pluripotent stem cell models of Fragile X syndrome.

Bhattacharyya A, Zhao X.

Mol Cell Neurosci. 2016 Jun;73:43-51. doi: 10.1016/j.mcn.2015.11.011. Epub 2015 Nov 27. Review.


Defining the role of the CGGBP1 protein in FMR1 gene expression.

Goracci M, Lanni S, Mancano G, Palumbo F, Chiurazzi P, Neri G, Tabolacci E.

Eur J Hum Genet. 2016 May;24(5):697-703. doi: 10.1038/ejhg.2015.182. Epub 2015 Aug 26.


Comparing ESC and iPSC-Based Models for Human Genetic Disorders.

Halevy T, Urbach A.

J Clin Med. 2014 Oct 24;3(4):1146-62. doi: 10.3390/jcm3041146. Review.


Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.

de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R.

Stem Cell Reports. 2014 Oct 14;3(4):548-55. doi: 10.1016/j.stemcr.2014.07.013. Epub 2014 Sep 11.


Clinical and molecular implications of mosaicism in FMR1 full mutations.

Pretto D, Yrigollen CM, Tang HT, Williamson J, Espinal G, Iwahashi CK, Durbin-Johnson B, Hagerman RJ, Hagerman PJ, Tassone F.

Front Genet. 2014 Sep 17;5:318. doi: 10.3389/fgene.2014.00318. eCollection 2014.


C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB.

Acta Neuropathol. 2014 Oct;128(4):525-41. doi: 10.1007/s00401-014-1286-y. Epub 2014 May 8.


Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.

Brendel C, Mielke B, Hillebrand M, Gärtner J, Huppke P.

J Neurodev Disord. 2013 Sep 10;5(1):23. doi: 10.1186/1866-1955-5-23.


Role of CTCF protein in regulating FMR1 locus transcription.

Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, Ferrè F, Helmer-Citterich M, Tabolacci E, Neri G.

PLoS Genet. 2013;9(7):e1003601. doi: 10.1371/journal.pgen.1003601. Epub 2013 Jul 18.


Bidirectional transcription of trinucleotide repeats: roles for excision repair.

Budworth H, McMurray CT.

DNA Repair (Amst). 2013 Aug;12(8):672-84. doi: 10.1016/j.dnarep.2013.04.019. Epub 2013 May 11. Review.


Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

Bagni C, Tassone F, Neri G, Hagerman R.

J Clin Invest. 2012 Dec;122(12):4314-22. doi: 10.1172/JCI63141. Epub 2012 Dec 3.


Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.55. Epub 2011 May 4. No abstract available.


High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Chen L, Hadd A, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ.

Genet Med. 2011 Jun;13(6):528-538. doi: 10.1097/GIM.0b013e31820a780f.

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