SEARCH

SEARCH BY CITATION

References

  • Al Husain, M., Salih, M., Zaki, O., Al Othman, L. & Al Nasser, M. (2000) Clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia. Ann Saudi Med 20, 1619.
  • Angeli, C. & Capelli, L. (2005) AGG interspersion pattern in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. Am J Med Genet A 132A, 210214.
  • Antar, L. N. & Bassell, G. J. (2003) Sunrise at the Synapse: The FMRP mRNP shaping the synaptic interface. Neuron 37, 555558.
  • Antar, L. N., Dictenberg, J. B., Plociniak, M., Afroz, R. & Bassell, G. J. (2005) Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. Genes Brain Behav 4, 350359.
  • Arinami, T., Kondo, I. & Nakajima, S. (1986) Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet 73, 309312.
  • Arrieta, I., Criado, B., Martinez, B., Telez, M., Nunez, T., Penagarikano, O., Ortega, B. & Lostao, C. (1999) A survey of fragile X syndrome in a sample from Spanish Basque country. Ann Genet 42, 197201.
  • Arrieta, I., Gil, A., Nunez, T., Telez, M., Martinez, B., Criado, B. & Lostao, C. (1999) Stability of the FMR1 CGG repeat in a Basque sample. Hum Biol 71, 5568.
  • Aspillaga, M., Jara, L., Avendano, I. & Lopez, S. (1998) Clinical analysis of 200 Chilean patients with unspecific mental retardation. Rev Med Chile 126, 14471454.
  • Baker, K., Wray, S., Ritter, R., Mason, S., Lanthorn, T. & Savelieva, K. (2010) Male and female Fmr1 knockout mice on C57 albino background exhibit spatial learning and memory impairments. Genes Brain Behav 9, 562574.
  • Barros-Nunez, P., Rosales-Reynoso, M., Sandoval, L., Romero-Espinoza, P., Troyo-Sanroman, R. & Ibarra, B. (2008) Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, Tarahumara. Am J Hum Biol 20, 259263.
  • Bassell, G. J. & Warren, S. T. (2008) Fragile X syndrome: Loss of local mRNA regulation alters synaptic development and function. Neuron 60, 201214.
  • Bastaki, L., Hegazy, F., Al-Heneidi, M., Turki, N., Azab, A. & Naguib, K. (2004) Fragile X syndrome: A clinico-genetic study of mentally retarded patients in Kuwait. East Mediterr Health J 10, 116124.
  • Behery, A. (2008) Fragile X-syndrome: Clinical and molecular studies. J Egypt Public Health Assoc 83, 273283.
  • Bittel, D. C., Kibiryeva, N. & Butler, M. G. (2007) Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med 9, 464472.
  • Bodega, B., Bione, S., Toniolo, L., Ornaghi, F., Vegetti, W., Ginelli, E. & Marozzi, A. (2006) Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 21, 952957.
  • Bourgeois, J., Coffey, S., Rivera, S., Hessl, D., Gane, L., Tassone, F., Greco, C., Finucane, B., Nelson, L., Berry-Kravis, E., Gribsby, J., Hagerman, P. & Hagerman, J. (2009) A review of fragile X premutation disorders: Expanding the psychiatric perspective. J Clin Psychiatry 70, 852862.
  • Bretherick, K., Fluker, M. & Robinson, W. (2005) FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117, 376382.
  • Brouwer, J. R., Willemsen, R. & Oostra, B. A. (2009) Microsatellite repeat instability and neurological disease. Bioessays 31, 7183.
  • Buyle, S., Reyniers, E., Vits, L., De Boulle, K., Handig, I., Wuyts, F., Deelen, W., Halley, D., Oostra, B. & Willems, P. (1993) Founder effect in a Belgian-Dutch Fragile X population. Hum Genet 92, 269272.
  • Chakravarti, A. (1992) Fragile X founder effect? Nat Genet 1,237238.
  • Chiu, H., Tseng, Y., Hsiao, H. & Hsiao, H. (2008) The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population. J Genet 87, 275277.
  • Chiurazzi, P., Destro-Bisol, G., Genuardi, M., Oostra, B., Spedini, G. & Neri, G. (1996a) Extended gene diversity at the FMR1 Locus and Neighbouring CA repeats in a Sub-Saharan population. Am J Med Genet 64, 216219.
  • Chiurazzi, P., Genuardi, M., Kozak, L., Giovannucci-Uzielli, M., Bussani, C., Dagna-Bricarelli, F., Grasso, M., Perroni, L., Sebastio, G., Sperandeo, M., Oostra, B. A. & Neri, G. (1996b) Fragile X founder chromosomes in Italy: A few intial events and possible explanation for their heterogeneity. Am J Hum Genet 64, 209215.
  • Coffee, B., Keith, K., Albizua, I., Malone, T., Mowery, J., Sherman, S. & Warren, S. (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85, 503514.
  • Collins, S. C., Bray, S. M., Suhl, J. A., Cutler, D. J., Coffee, B., Zwick, M. E. & Warren, S. T. (2010) Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A 152A, 25122520.
  • Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J. & Greenough, W. T. (1997) Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits. Proc Natl Acad Sci USA 94,54015404.
  • Crawford, D., Acuna, J. & Sherman, S. (2001) FMR1 and the Fragile X syndrome: human genome epidemiology review. Genet Med 3, 359371.
  • Crawford, D., Meadows, K., Newman, J., Taft, L., Pettay, D., Gold, L., Hersey, J., Hinkle, E., Stanfield, M., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C. & Sherman, S. (1999) Prevalence and phenotype consquence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet 64, 495507.
  • Crawford, D., Meadows, K., Newman, J., Taft, L., Scott, E., Leslie, M., Shubek, L., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C. & Sherman, S. (2002) Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 110, 226233.
  • Crawford, D., Schwartz, C., Meadows, K., Newman, J., Taft, L., Gunter, C., Brown, W. T., Carpenter, N., Howard-Peebles, P., Monaghan, K., Nolin, S., Reiss, A., Feldman, G., Rohlfs, E., Warren, S. & Sherman, S. (2000a) Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet 66, 480493.
  • Crawford, D., Wilson, B. & Sherman, S. (2000b) Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. Hum Mol Genet 9, 29092918.
  • Crawford, D., Zhang, F., Wilson, B., Warren, S. & Sherman, S. (2000c) Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum Mol Genet 9, 17591769.
  • De Boulle, K., Verkerk, A., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van Den Bos, F., De Graaff, E., Oostra, B. & Willems, P. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3, 3135.
  • De Caro, J., Dominguez, C. & Sherman, S. (2008) Reproductive health of adolescent girls who carry the FMR1 premutation: Expected phenotype based on current knowledge of fragile X-associated primary ovarian insufficiency. Ann N Y Acad Sci. 1135, 99111.
  • De Vries, B., Van Den Ouweland, A., Mohkamsing, S., Duivenvoorden, H., Mol, E., Gelsema, K., Van Rijn, M., Halley, D., Sandkuijl, L., Oostra, B., Tibben, A. & Niermeijer, M. (1997) Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet 61, 660667.
  • Demirhan, O., Tastemir, D., Diler, R. & Avci, A. (2003). A cytogenetic study in 120 Turkish children with intellectual diability and characteristics of fragile X syndrome. Yonsei Med J 44, 583592.
  • Diaz-Gallardo, M., Barros-Nunez, P., Diaz, C., Hernandez, A., Gomez-Espinel, I., Leal, C., Fragoso, R., Figuera, L., Gracia-Cruz, D. & Ramirez-Duenas, M. (1995) Molecular characterization of the fragile X syndrome in the Mexican population. Arch Med Res 26, S77S83.
  • Dokić, H., Barišić, I., Čulić, V., Lozić, B. & Hećimović, S. (2008). Haplotype and AGG interspersion analysis of FMR1 alleles in a Croatian population: No founder effect detected in patients with fragile X syndrome. Hum Biol 80, 581587.
  • Eichler, E., Hammond, H., Macpherson, J., Ward, P. & Nelson, D. (1995a) Population survey of the human FMR1 CGG substructure suggest biased polarity for the loss of AGG interruptions. Hum Mol Genet 4, 21992208.
  • Eichler, E., Holden, J. J., Popovich, B. W., Reiss, A. L., Snow, K., Thibodeau, S., Richards, C. S., Ward, P. & Nelson, D. L. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8, 8894.
  • Eichler, E., Kunst, C., Lugenbeel, K., Ryder, O., Davison, D., Warren, S. & Nelson, D. (1995b). Evolution of the cryptic FMR1 CGG repeat. Nat Genet 11, 301308.
  • Eichler, E. & Nelson, L. (1996) Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Hum Genet 64, 220225.
  • Eichler, E. E., Macpherson, J. N., Murray, A., Jacobs, P. A., Chakravarti, A. & Nelson, D. L. (1996) Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet 5, 319330.
  • Elbaz, A., Suedois, J., Duquesnoy, M., Beldjord, C., Berchel, C. & Merault, G. (1998) Prevalence of fragile X syndrome and FRAXE amond children with intellectual disability in a Caribbean island, Guadelope, French West Indies. J Intellect Dis Res 42, 8189.
  • Ennis, S., Murray, A., Brightwell, G., Morton, N. E. & Jacobs, P. A. (2007) Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes. Hum Mut 28, 12161224.
  • Ennis, S., Ward, D. & Murray, A. (2005) Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genetics 14, 253255.
  • Entezam, A. & Usdin, K. (2008) ATR protects the genome against CGG*CGG-repeat expansion in fragile X premutation mice. Nucleic Acids Res 36, 10501056.
  • Entezam, A. & Usdin, K. (2009) ATM and ATR protect the genome against two different types of tandem repeat instability in fragile X premutation mice. Nucleic Acids Res 37, 63716377.
  • Faradz, S. M. H., Pattiiha, M. Z., Leigh, D. A., Jenkins, M., Leggo, J., Buckley, M. F. & Holden, J. J. A. (2000) Genetic diversity at the FMR1 locus in the Indonesian population. Ann Hum Genet 64, 329339.
  • Fengler, S., Fuchs, S., Konig, R. & Arnemann, J. (2002) Mosaicism for FMR1 and FMR2 deletion: A new case. J Med Genetics 39, 200201.
  • Foiry, L., Dong, L., Savouret, C., Hubert, L., Te Riele, H., Junien, C. & Gourdon, G. (2006) MSH3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119, 520526.
  • Foulkes, W. (2008) Inherited susceptibility to common cancers. N Engl J Med 359, 21432153.
  • Fu, Y., Kuhl, D., Pizzuti, A., Pieretti, M., Sutcliffe, J., Richards, S., Verkerk, A., Holden, J., Fenwick, R. & Warren, S. (1991) Variation of the CGG repeat at the fragile X site results in gene instability: Resolution of the Sherman paradox. Cell 67, 10471058.
  • Garber, K., Smith, K., Reines, D. & Warren, S. (2006) Transcription, translation and fragile X syndrome. Curr Opin Genet Dev 16, 270275.
  • Gerard, B., Le Heuzey, M., Brunie, G., Lewine, P., Saiag, M., Cacheux, V., Da Silva, F., Dugas, M., Mouren-Simeoni, M., Elion, J. & Grandchamp, B. (1997) Systematic screening for fragile X in a cohort of 574 mentally retarded children. Ann Genet 40, 139144.
  • Godler, D. E., Tassone, F., Loesch, D. Z., Taylor, A. K., Gehling, F., Hagerman, R. J., Burgess, T., Ganesamoorthy, D., Hennerich, D., Gordon, L., Evans, A., Choo, K. H. & Slater, H. R. (2010) Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 19, 16181632.
  • Goldman, A., Jenkins, T. & Krause, A. (1998) Molecular evidence that fragile X syndrome occurs in the South African black population. J Med Genet 35, 878.
  • Goldman, A., Krause, A. & Jenkins, T. (1997) Fragile X syndrome occurs in the South African black population. S Afr Med J 87, 418420.
  • Gomes-Pereira, M., Fortune, M., Ingram, L., Mcabney, J. & Monckton, D. (2004) Pms2 is a genetic enhancer of trinucleotide CAG CTG repeat somatic mosaicism: Implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13, 18151825.
  • Gonzalez-Del Angel, A., Vidal, S., Del Casillo, V., Angel Alcantara, M., Macias, M., Pedro Luna, J. & Orozco, L. (2000) Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico. Ann Genet 43, 2934.
  • Greco, C., Berman, R., Martin, R., Tassone, F., Schwartz, P., Chang, A., Trapp, B., Iwahashi, C., Brunberg, J., Grigsby, J., Hessl, D., Becker, E., Papazin, J., Leehey, M., Hagerman, R. & Hagerman, P. (2006) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129, 243255.
  • Grossman, A. W., Aldridge, G. M., Weiler, I. J. & Greenough, W. T. (2006) Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond. J Neurosci 26, 71517155.
  • Gunter, C., Paradee, W., Crawford, D. C., Meadows, K., Newman, J., Kunst, C., Nelson, D., Schwartz, C., Murray, A., Macpherson, J., Sherman, S. & Warren, S. (1998) Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet 7, 19351946.
  • Haddad, L., Aquiar, M., Costa, S., Mingroni-Netto, R., Vianna-Morgante, A. & Pena, S. (1999) Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. Am J Med Genet 84, 198201.
  • Hagerman, R., Hall, D., Coffey, S., Leehey, M., Bourgeois, J., Gould, J., Zhang, L., Seritan, A., Berry-Kravis, E., Olichney, J., Miller, J., Fong, A., Carpenter, R., Bodine, C., Gane, L., Rainin, E., Hagerman, H. & Hagerman, P. (2008) Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging 3, 251261.
  • Hagerman, R., Leavitt, B., Farzin, F., Jacquemont, S., Greco, C., Brunberg, J., Tassone, F., Hessl, D., Harris, S., Zhang, L., Jardini, T., Gane, L., Ferranti, J., Ruiz, L., Leehey, M., Grigsby, J. & Hagerman, P. (2004) Fragile-X associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74, 10511056.
  • Hagerman, R., Leehey, M. & Heinrichs, W. (2001) Intention tremor, Parkinsonism, and general brain atrophy in male carriers of fragile X. Neurology 57, 127130.
  • Han, X. -D., Powell, B., Phalin, J. & Chehab, F. (2006) 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 140A, 14631471.
  • Handa, V., Goldwater, D., Stiles, D., Cam, M., Poy, G., Kumari, D. & Usdin, K. (2005). Long CGG-repeat tracts are toxic to human cells: Implications for carriers of fragile X premutation alleles. FEBS Letters 579, 27022708.
  • Hecimovic, S., Barisic, I. & Pavelic, K. (1998) DNA analysis of the fragile X syndrome in an at risk pediatric population in Croatia: Simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies. Hum Hered 48, 256265.
  • Hecimovic, S., Tarnik, I., Barisic, I., Cakarun, Z. & Pavelic, K. (2002) Screening for fragile X syndrome: Results from a school of mentally retarded children. Acta Paediatr 91, 535539.
  • Hessl, D., Tassone, F., Loesch, D., Berry-Kravis, E., Leehey, M., Gane, L., Barbato, I., Rice, C., Gould, E., Hall, D., Grigsby, J., Wegelin, J., Harris, S., Lewin, F., Weinberg, D., Hagerman, P. & Hagerman, R. (2005) Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Hum Genet B 139B, 115121.
  • Hessl, D., Wang, J., Schneider, A., Koldewyn, K., Le, L., Iwahashi, C., Cheung, K., Tassone, F., Hagerman, P. & Rivera, S. (2011) Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry 70, 859865.
  • Hill, M. K., Archibald, A. D., Cohen, J. & Metcalfe, S. A. (2010) A systematic review of population screening for fragile X syndrome. Genet Med 12, 396410.
  • Iwahashi, C., Yasui, D., Greco, C., Tassone, F., Nannen, K., Babineau, B., Lebrilla, C., Hagerman, R. & Hagerman, P. (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain 129, 256271.
  • Jacobs, P., Mayer, M. & Abruzzo, M. (1986) Studies of fragile (X) syndrome in populations of mentally retarded individuals in Hawaii. Am J Med Genet 23, 167172.
  • Jacobs, P., Bullman, H., Macpherson, J., Youings, S., Roonesy, V., Watson, A. & Dennis, N. (1993) Population studies of the fragile X: A molecular apporach. J Med Genet 30, 454459.
  • Jain, U., Verma, I. & Kapoor, A. (1998) Prevalence of gragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India. Indian J Med Res 108, 1216.
  • Jara, L., Aspillaga, M., Avendano, I., Onreque, V., Blanco, R. & Valenzuela, C. (1998) Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population. Am J Med Genet 75, 277287.
  • Kalantaridou, S., Davis, S. & Nelson, L. (1998) Premature ovarian failure. Endocrinol Metab Clin North Am 27, 9891006.
  • Kaplan, G., Kung, M., Mcclure, M. & Cronister, A. (1994) Direct analysis of 495 patients for fragile X carrier status/proband diagnosis. Am J Med Genet 51, 501502.
  • Kenneson, A. & Warren, S. (2001) The female and the fragile X reviewed. Semin Reprod Med 19, 159165.
  • Koldewyn, K., Hessl, D., Adams, J., Tassone, F., Hagerman, P., Hagerman, R. & Rivera, S. (2008) Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatri symptoms in men with the fragile X premutation. Brain Imaging Behav 2, 105116.
  • Kovtun, I., Liu, Y., Bjoras, M., Klungland, A., Wilson, B. & Mcmurray, C. (2007) OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447, 447452.
  • Kovtun, I. & Mcmurray, C. (2008) Features of trinucleotide repeat instability in vivo. Cell Res 18, 198213.
  • Kronquist, K. E., Sherman, S. L. & Spector, E. B. (2008) Clinical significance of tri-nucleotide repeats in fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med 10, 845847.
  • Kunst, C., Zerylnick, C., Karickhoff, L., Eichler, E., Bullard, J., Chalifox, M., Holden, J. J. A., Torroni, A., Nelson, L. & Warren, S. (1996) FMR1 in global populations. Am J Hum Genetics 58, 513522.
  • Kunst, C. B. & Warren, S. T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77, 853861.
  • Ludwig, A. L., Hershey, J. W. B. & Hagerman, P. J. (2011) Initiation of translation of the FMR1 mRNA occurs predominantly through 5’-End-dependent ribosomal scanning. J Mol Biol 407, 2134.
  • Major, T., Culikovic, B., Stojkovic, O., Gucscekic, M., Lakic, A. & Romac, S. (2003). Prevalence of the fragile X sydrome in Yugoslav patients with non-specific mental retardation. J Neurogenet 17, 223230.
  • Malmgren, H., Gustavson, K., Oudet, C., Holmgren, G., Pettersson, U. & Dahl, N. (1994) Strong founder effect for the fragile X syndrome in Sweden. Eur J Hum Genet 2, 103109.
  • Malter, H., Iber, J., Willemsen, R., De Graaff, E., Tarleton, J., Leisti, J., Warren, S. & Oostra, B. (1997) Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet 15, 165169.
  • Manley, K., Shirley, T., Flaherty, L. & Messer, A. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23, 471473.
  • Matilainen, R., Airaksinen, E., Mononen, T., Launiala, K. & Kaariainen, R. (1995). A population-based study of the causes of mild and severe mental retardation. Acta Paediatr 84, 261266.
  • Mazurczak, T., Bocian, E., Milewski, M., Obersztyn, H., Bal, J., Szamotulska, K. & Karwacki, M. (1996) Frequency of fragile X syndrome among institutionalized mentally retarded males in Poland. Am J Med Genet 64, 184186.
  • Mcmurray, C. T. (2010). Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 11, 786799.
  • Mila, M., Sanchez, A., Badenas, C., Brun, C., Jimenez, D., Villa, M., Castellvi-Bel, S. & Estivill, X. (1997) Screening for FMR1 and FMR2 mutations in 222 individuals form Spanish special schools: Identification of a case of FRAXE-associated mental retardation. Hum Genet 100, 503507.
  • Millan, J., Martinez, F., Cadroy, A., Gandia, J., Casquero, M., Beneyto, M., Badia, L. & Prieto, F. (1999) Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain. Clin Genet 56, 9899.
  • Mineur, Y., Huynh, L. & Crusio, W. (2006) Social behavior deficits in the Fmr1 mutant mouse. Behav Brain Res 168, 172–175.
  • Mingroni-Netto, R., Angeli, C., Auricchio, T., Leal-Mesquita, E., Ribeiro-Dos-Santos, A., Ferrari, I., Hutz, M., Salzano, F., Hill, K., Hurtado, A. & Vianna-Morgante, A. (2002) Distributiion of CGG repeats and FRAXAC1/DXS548 alleles in South American population. Am J Med Genet 111, 243252.
  • Mingroni-Netto, R., Costa, S., Angeli, C. & Vianna-Morgante, A. (1999) DXS548/FRAXAC1 haplotypes in fragile X chromosome in the Brazilian population. Am J Med Genet 84, 204207.
  • Mirkin, S. (2006) DNA structures, repeat expansions and human hereditary disorders. Curr Opin Struct Biol 16, 351358.
  • Mitchell, R., Holdern, J., Zhang, C., Curlis, Y., Slater, H., Burgess, T., Kirkby, K., Carmichael, A., Heading, K. & Loesch, D. (2004) FMR1 alleles in Tasmania: A screening study of the special educational needs population. Clin Genet 67, 3846.
  • Miyamoto, M., Slightom, J. & Goodman, M. (1987) Phylogenetic relations of humans and apes form DNA sequences in the psi eta-globin regio. Science 238, 369373.
  • Morton, N. E. & Macpherson, J. N. (1992) Population genetics of the fragile X syndrome: Multiallelic model for the FMR1 locus. Proc Natl Acad Sci 89, 42154217.
  • Muddashetty, R. S., Kelić, S., Gross, C., Xu, M. & Bassell, G. J. (2007). Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome. J Neurosci 27, 53385348.
  • Mulatinho, M., Llerena, J. & Pimentel, M. (2000) FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation. Genet Test 4, 283287.
  • Murray, A., Youings, S., Dennis, N., Latsky, L., Linehan, P., Mckechnie, N., Macpherson, J., Pound, M. & Jacobs, P. (1996) Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 5, 727735.
  • Nanba, E., Kohno, Y., Matsuda, A., Yano, M., Sato, C., Hashimoto, K., Koeda, T., Yoshino, K., Kimura, K., Maeoka, Y., Yamamoto, K., Maegaki, Y., Eda, I. & Takeshita, K. (1995) Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males. Brain Dev 17, 317321.
  • Nolin, S. L., Lewis, F. A. 3rd, Ye, L. L., Houck, G. E. Jr., Glicksman, A. E., Limprasert, P., Li, S. Y., Zhong, N., Ashley, A. E., Feingold, E., Sherman, S. L. & Brown, W. T. (1996). Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59, 12521261.
  • O’dwyer, J., Holmes, J., Mueller, R. & Taylor, G. (1997) The prevalence of fragile X syndrome in an institution for people with learning disability. Psychiatr Genet 7, 115119.
  • Oostra, B. & Willemsen, R. (2003) A fragile balance: FMR1 expression levels. Hum Mol Genet 12, R249R257.
  • Otsuka, S., Sakamoto, Y., Siomi, H., Itakura, M., Yamamoto, K., Matumoto, H., Sasaki, T., Kato, M. & Nanba, E. (2010) Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 32, 110–114.
  • Oudet, C., Mornet, E., Serre, J., Thomas, F., Lentes-Zengerling, S., Kretz, C., Deluchat, C., Tejada, I., Boue, J. & Boue, A. (1993a) Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggest that fragile X chromesome are derived from a small number of founder chromosomes. Am J Hum Genet 52, 297304.
  • Oudet, C., Von Koskull, H., Nordstrom, A., Peippo, M. & Mandel, J. (1993b) Striking founder effect for the fragile X syndrome in Finland. Eur J Hum Genet 1, 181189.
  • Owen, B., Lang, W. & Mcmurray, C. (2009) The nucleotide binding dynamics of human MSH2-MSH3 are lesion dependent. Nat Struct Mol Biol. 16, 550557.
  • Pandey, U., Phadke, A. & Mittal, B. (2002) Molecular screeing of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genet Test 6, 335339.
  • Pastore, L., Karns, L., Pinkerton, J., Silverman, M., Williams, C. & Camp, T. (2006) Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction. Am J Obstet Gynecol 194, 738743.
  • Patsalis, P. C., Sismani, C., Hettinger, J. A., Boumba, I., Georgiou, I., Stylianidou, G., Anastasiadou, V., Koukoulli, R., Pagoulatos, G. & Syrrou, M. (1999) Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability. Am J Med Genet 84, 184190.
  • Pearson, C., Ewel, A., Acharya, A., Fishel, R. & Sinden, R. (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative disease. Hum Mol Genet 6, 11171123.
  • Pembrey, M. E., Barnicoat, A. J., Carmichael, B., Bobrow, M. & Turner, G. (2001) An assessment of screening strategies for fragile X syndrome in the UK. Health Technol Assess 5, 195.
  • Peprah, E., He, W., Allen, E., Oliver, T., Boyne, A. & Sherman, S. L. (2010a) Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet 55, 6668.
  • Peprah, E. K., Allen, E. G., Williams, S. M., Woodard, L. M. & Sherman, S. L. (2010b) Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. Ann Hum Genet 74, 316325.
  • Pouya, A., Abedini, S., Mansoorian, N., Behjati, F., Nikzat, N., Mohseni, M., Nieh, S., Abbasi Moheb, L., Dravish, H., Mohajemi, G., Banihashemi, S., Kahrizi, K., Ropers, H. & Najmabadi, H. (2009) Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. Eur J Med Genet 52, 170173.
  • Puusepp, H., Kahre, T., Sibul, H., Soo, V., Lind, I., Raukas, E. & Ounap, K. (2008) Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population. J of Child Neurol 23, 14001405.
  • Richards, R. I., Holman, K., Friend, K., Kremer, E., Hillen, D., Staples, A., Brown, W. T., Goonewardena, P., Tarleton, J., Schwartz, C. & Sutherland, G. R. (1992) Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1, 257260.
  • Rife, M., Badenas, C., Mallolas, J., Jimenez, L., Cervera, R., Maya, A., Glover, G., Rivera, F. & Mila, M. (2003) Incidence of fragile X in 5,000 consecutive newborn males. Genet Test 7, 339343.
  • Rosales-Reynoso, M. A., Mendoza-Carrera, F., Troyo-Sanroman, R., Medina, C. & Barros-Nunez, P. (2005) Genetic diversity at the FMR1 locus in Mexican population. Arch Med Res 36, 412417.
  • Rosales-Reynoso, M. A., Ochoa-Hernández, A. B., Aguilar-Lemarroy, A., Jave-Suárez, L. F., Troyo-Sanromán, R. & Barros-Núñez, P. (2010) Gene expression profiling identifies WNT7A as a possible candidate gene for decreased cancer risk in fragile X syndrome patients. Arch Med Res 41, 110118.
  • Rousseau, F., Levesque, S., Dombrowski, C., Morel, M., Rehel, R., Cote, J., Bussieres, J. & Morgan, K. (2007) Screening and maternal transmission instability of intermediate-size and premutation FMR1 alleles in 24,446 mother-newborn pairs from the general population. Eur J Med Genet 15 (Supplement 1), 22.
  • Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W. & Morgan, K. (1995) Prevalence of carriers of premutation-size alleles of the FMRI gene–and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57, 10061018.
  • Ruangdaraganon, N., Limprasert, P., Sura, T., Sombuntham, T., Sriwongpanich, N. & Kotchadhakdi, N. (2000) Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital. J Med Assoc Thai 83, 6976.
  • Savouret, C., Brisson, E., Essers, J., Kanaar, R., Pastink, A., Te Riele, H., Junien, C. & Gourdon, G. (2003) CTG repeat instability and size variation timing in DNA repair-dficient mice. EMBO 22, 22642273.
  • Sharma, D., Gupta, M. & Thelma, B. K. (2001) Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol 20, 129144.
  • Slaney, S., Wilkie, A., Hirst, M., Charlton, R., Mckinley, M., Pointon, J., Christodoulou, Z., Huson, S. & Davies, K. (1995) DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child 72, 3337.
  • Snow, K., Doud, L., Hagerman, R., Pergolizzi, R., Erster, S. & Thibodeau, S. (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53, 12171228.
  • Strom, C., Crossley, B., Redman, J., Buller, A., Quan, F., Peng, M., Mcginnis, M., Fenwick, R. & Weimin, S. (2007) Molecular testing for fragile X syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 9, 4651.
  • Spiro, C., Pelletier, R., Rolfsmeier, M., Dixon, M., Lahue, R., Gupta, G., Park, M., Chen, X., Mariappan, V. & Mcmurray, C. (1999) Inhibition of FEN-1 processing by DNA secondary structures at trinucleotide repeats. Mol Cell 4, 10791085.
  • Sullivan, A., Marcus, M., Epstein, M., Allen, E., Anido, A., Paquin, J., Yadav-Shah, M. & Sherman, S. (2005) Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 20, 402412.
  • Syrrou, M., Patsalis, P., Georgiou, I., Hadjimarcou, M., Constantinou-Deltas, C. & Pagoulatos, G. (1996) Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus. Am J Med Genet 64, 234238.
  • Tarleton, J., Taylor, A., Crandall, K., Fletcher, R., Casey, R., Hart, P., Hatton, D., Fisch, G. & Warren, S. (2002) A single base alteration in the CGG repeat region of FMR1: Possible effects on gene expression and phenotype. J Med Genet 39, 196200.
  • Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C., Li, L., Glover, K., Bentley, D. & Hagerman, P. J. (2007) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13, 555562.
  • Tassone, F., De Rubeis, S., Carosi, C., La Fata, G., Serpa, G., Raske, C., Willemsen, R., Hagerman, P. J. & Bagni, C. (2011) Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Res 39, 61726185.
  • Terracciano, A., Chiurazzi, P. & Neri, G. (2005) Fragile X syndrome. Am J Med Genet 137C, 3237.
  • Tolendano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., Taub, E., Halpern, G., Ginott, N. & Shohat, M. (2001) Fragile X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69, 351360.
  • Tome, S., Holt, I., Edelmann, W., Morris, G., Munnich, A., Pearson, C. & Gourdon, G. (2009) MSH2 ATPase domain muttion affects CTG-CAG repeat instability in transgenic mice. PLOS Genet 5, e1000482. doi:10.1371/journal.pgen.1000482.
  • Tranebjaerg, L., Hilling, S., Jessen, J., Lind, D. & Hansen, M. (1994) Prevalence of fragile (X) in the county of Funen in Denmark is lower than expected. Am J Med Genet 51, 423427.
  • Tuncbileck, E., Alikasifoglu, M., Boduroglu, K., Aktas, D. & Anar, D. (1999) Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology. Am J Med Genet 84, 202203.
  • Turner, G., Robinson, H., Laing, S. & Purvis-Smith, S. (1986) Preventive screening for the fragile X syndrome. N Engl J Med 315, 607609.
  • Turner, G., Webb, T., Wake, S. & Robinson, H. (1996) Prevalence of fragile X syndrome. Am J Med Genet 64, 196197.
  • Tzeng, C., Gho, W., Kuo, P. & Chen, R. (1999) Pilot fragile X screening in normal population of Taiwan. Diagn Mol Pathol 8, 152156.
  • Tzeng, C., Tsai, L., Hwu, W., Lin, S., Chao, M., Jong, Y., Chu, S., Chao, W. & Lu, C. (2005) Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analyis of DXS548-FRAXAC1 haplotype. Am J Med Genet 133A, 3743.
  • Tzeng, C., Tzeng, P., Sun, H., Chen, R. & Lin, S. (2000) Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. Diagn Mol Pathol 9, 7580.
  • Van Den Ouweland, A., De Vries, B., Bakker, P., Deelen, W., De Graff, E., Van Hemel, J., Oostra, B., Niermeijer, M. & Halley, D. (1994) DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet 51, 482485.
  • Verkerk, A., Pieretti, M., Sutcliffe, J., Fu, Y., Kuhl, D., Pizzuti, A., Reiner, O., Richards, S., Victoria, M., Zhang, F., Eussen, B., Van Ommen, G., Blonden, L., Riggins, G., Chastain, J., Kunst, C. B., Galjaard, H., Caskey, C., Nelson, D. L., Oostra, B. A. & Warren, S. T. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905914.
  • Webb, T., Bundey, S., Thake, A. & Todd, J. (1986) The frequency of the fragile X chromosome among school children in Coventry. J Med Genet 23, 396399.
  • Welt, C., Smith, P. & Taylor, A. (2004) Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab 89, 45694574.
  • Willemsen, R., Levenga, J. & Oostra, B. (2011) CGG repeat in the FMR1 gene: Size matters. Clin Genet 80, 214225.
  • Woad, K., Watkins, W., Prendergast, D. & Shelling, A. (2006) The genetic basis of premature ovarian failure. Aust N Z J Obstet Gynaecol 46, 242244.
  • Yim, S., Jeon, B., Yang, A. & Kim, H. (2008) Fragile X syndrome in Korea: A case series and a review of the literature. J Korean Med Sci 23, 470476.
  • Youings, S., Murray, A., Dennis, N., Ennis, S., Lewis, C., Mckechnie, N., Pound, M., Sharrock, A. & Jacobs, P. A. (2000) FRAXA and FRAXE: The results of a five year survey. J Med Genet 37, 415421.
  • Zeesman, S., Zwaigenbaum, L., Whelan, D., Hagerman, R., Tassone, F. & Taylor, S. (2004) Parental transmission of fragile X syndrome. Am J Hum Genet 129A, 184189.
  • Zhong, N., Liu, X., Gou, S., Houck, G., Li, S., Dobkin, C. & Brown, W. (1994) Distribution of FMR-1 and assocaiated alleles in a normal Chinese population. Am J Med Genet 51, 417422.
  • Zhong, N., Yang, W., Dobkin, C. & Brown, W. T. (1995) Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Med Genet 57, 351361.
  • Zhou, Y., Tang, K., Law, H., Ng, I., Lee, C. & Chong, S. (2006) FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability. Ann Hum Genet 70, 784796.