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Items: 1 to 20 of 39

1.

Cancer cell line specific co-factors modulate the FOXM1 cistrome.

Wang Y, Ung MH, Xia T, Cheng W, Cheng C.

Oncotarget. 2017 Aug 24;8(44):76498-76515. doi: 10.18632/oncotarget.20405. eCollection 2017 Sep 29.

2.

A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.

Suhl JA, Muddashetty RS, Anderson BR, Ifrim MF, Visootsak J, Bassell GJ, Warren ST.

Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):E6553-61. doi: 10.1073/pnas.1514260112. Epub 2015 Nov 9.

3.

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA.

EMBO Mol Med. 2015 Apr;7(4):423-37. doi: 10.15252/emmm.201404576.

4.

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Biancalana V, Glaeser D, McQuaid S, Steinbach P.

Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17.

5.

Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Gerstberger S, Hafner M, Ascano M, Tuschl T.

Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1. Review.

6.

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders.

Francis SM, Sagar A, Levin-Decanini T, Liu W, Carter CS, Jacob S.

Brain Res. 2014 Sep 11;1580:199-218. doi: 10.1016/j.brainres.2014.01.021. Epub 2014 Jan 22. Review.

7.

Circadian rhythm-dependent alterations of gene expression in Drosophila brain lacking fragile X mental retardation protein.

Xu S, Poidevin M, Han E, Bi J, Jin P.

PLoS One. 2012;7(5):e37937. doi: 10.1371/journal.pone.0037937. Epub 2012 May 24.

8.

The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

Rousseau F, Labelle Y, Bussières J, Lindsay C.

Clin Biochem Rev. 2011 Aug;32(3):135-62.

9.

Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.

De Rubeis S, Bagni C.

J Neurodev Disord. 2011 Sep;3(3):257-69. doi: 10.1007/s11689-011-9087-2. Epub 2011 Aug 13.

10.

IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister.

Sills ES, Brady AC, Omar AB, Walsh DJ, Salma U, Walsh AP.

Reprod Biol Endocrinol. 2010 Mar 25;8:31. doi: 10.1186/1477-7827-8-31.

11.

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST.

PLoS One. 2010 Mar 5;5(3):e9476. doi: 10.1371/journal.pone.0009476.

12.

Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory.

Bolduc FV, Bell K, Rosenfelt C, Cox H, Tully T.

Front Neural Circuits. 2010 Jan 8;3:22. doi: 10.3389/neuro.04.022.2009. eCollection 2010.

13.

RNA-mediated pathogenesis in fragile X-associated disorders.

Tan H, Li H, Jin P.

Neurosci Lett. 2009 Dec 4;466(2):103-8. doi: 10.1016/j.neulet.2009.07.053. Epub 2009 Jul 23. Review.

14.

Fruit flies and intellectual disability.

Bolduc FV, Tully T.

Fly (Austin). 2009 Jan-Mar;3(1):91-104. Epub 2009 Jan 12. Review.

15.

Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.

Wells RD.

J Biol Chem. 2009 Mar 20;284(12):7407-11. doi: 10.1074/jbc.R800024200. Epub 2008 Oct 28. Review.

16.

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST.

Am J Med Genet A. 2008 May 15;146A(10):1358-67. doi: 10.1002/ajmg.a.32261. Review.

17.

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.

18.

Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein.

Wan L, Dockendorff TC, Jongens TA, Dreyfuss G.

Mol Cell Biol. 2000 Nov;20(22):8536-47.

19.

The fragile X syndrome.

de Vries BB, Halley DJ, Oostra BA, Niermeijer MF.

J Med Genet. 1998 Jul;35(7):579-89. Review.

20.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K.

Am J Hum Genet. 1997 Oct;61(4):961-7.

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