Crawford D, Acuna J, Sherman S: FMR1 and the Fragile X syndrome: human genome epidemiology review. Genet Med. 2001, 3 (5): 359-371. 10.1097/00125817-200109000-00006.
Article
PubMed
CAS
PubMed Central
Google Scholar
Garber K, Smith K, Reines D, Warren S: Transcription, translation and Fragile X Syndrome. Curr Opin Genet Dev. 2006, 16: 270-275. 10.1016/j.gde.2006.04.010.
Article
PubMed
CAS
Google Scholar
Coffee B, Keith K, Albizua I, Malone T, Mowery J, Sherman S, Warren S: Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009, 85: 503-514. 10.1016/j.ajhg.2009.09.007.
Article
PubMed
CAS
PubMed Central
Google Scholar
Fengler S, Fuchs S, Konig R, Arnemann J: Mosaicism for FMR1 and FMR2 deletion: a new case. J Med Genet. 2002, 39: 200-201. 10.1136/jmg.39.3.200.
Article
PubMed
CAS
PubMed Central
Google Scholar
Han X-D, Powell B, Phalin J, Chehab F: Mosaicism for a Full mutation, Premutation and Deletion of the CGG Repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high functioning Fragile X male. Am J Med Genet A. 2006, 140A: 1463-1471. 10.1002/ajmg.a.31291.
Article
CAS
Google Scholar
Fu Y, Kuhl D, Pizzuti A, Pieretti M, Sutcliffe J, Richards S, Verkerk A, Holden J, Fenwick R, Warren S: Variation of the CGG repeat at the Fragile X site results in gene instability: resolution of the Sherman paradox. Cell. 1991, 67: 1047-1058. 10.1016/0092-8674(91)90283-5.
Article
PubMed
CAS
Google Scholar
Verkerk A, Pieretti M, Sutcliffe J, Fu Y, Pizzuti A, Reiner O, Richards S, Victoria M, Zhang F: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell. 1991, 65: 905-914. 10.1016/0092-8674(91)90397-H.
Article
PubMed
CAS
Google Scholar
Sutcliffe J, Nelson D, Zhang F, Pieretti M, Caskey T, Saxe D, Warren S: DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992, 1: 397-400. 10.1093/hmg/1.6.397.
Article
PubMed
CAS
Google Scholar
Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F: AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012, 14 (8): 729-736. 10.1038/gim.2012.34.
Article
PubMed
CAS
PubMed Central
Google Scholar
Zeesman S, Zwaigenbaum L, Whelan D, Hagerman R, Tassone F, Taylor S: Parental Transmission of Fragile X Syndrome. Am J Med Genet A. 2004, 129A: 184-189. 10.1002/ajmg.a.30191.
Article
PubMed
Google Scholar
Foulkes W: Inherited susceptibility to common cancers. N Engl J Med. 2008, 359: 2143-2153. 10.1056/NEJMra0802968.
Article
PubMed
CAS
Google Scholar
McMurray CT: Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet. 2010, 11 (11): 786-799. 10.1038/nrg2828.
Article
PubMed
CAS
PubMed Central
Google Scholar
Entezam A, Usdin K: ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res. 2009, 37 (19): 6371-6377. 10.1093/nar/gkp666.
Article
PubMed
CAS
PubMed Central
Google Scholar
Entezam A, Usdin K: ATR protects the genome against CGG. CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res. 2008, 36 (3): 1050-1056.
Article
PubMed
CAS
PubMed Central
Google Scholar
Rosales-Reynoso MA, Ochoa-Hernandez AB, Aguilar-Lemarroy A, Jave-Suarez LF, Troyo-Sanroman R, Barros-Nunez P: Gene expression profiling identifies WNT7A as a possible candidate gene for decreased cancer risk in fragile X syndrome patients. Arch Med Res. 2010, 41 (2): 110-118. 10.1016/j.arcmed.2010.03.001.
Article
PubMed
CAS
Google Scholar
Nishimura Y, Martin CL, Lopez AV, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST: Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007, 16 (14): 1682-1698. 10.1093/hmg/ddm116.
Article
PubMed
CAS
Google Scholar
Urbach A, Bar-Nur O, Daley GQ, Benvenisty N: Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell. 2010, 6 (5): 407-411. 10.1016/j.stem.2010.04.005.
Article
PubMed
CAS
PubMed Central
Google Scholar
Bittel DC, Kibiryeva N, Butler MG: Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med. 2007, 9 (7): 464-472. 10.1097/GIM.0b013e3180ca9a9a.
Article
PubMed
CAS
Google Scholar
Nolin SL, Lewis FA, Ye LL, Houck GE, Glicksman AE, Limprasert P, Li SY, Zhong N, Ashley AE, Feingold E: Familial transmission of the FMR1 CGG repeat. Am J Hum Genet. 1996, 59 (6): 1252-1261.
PubMed
CAS
PubMed Central
Google Scholar