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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Abstract
Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect in fragile X families range in size from 52 to over 200 repeats. All alleles with greater than 52 repeats, including those identified in a normal family, are meiotically unstable with a mutation frequency of one, while 75 meioses of alleles of 46 repeats and below have shown no mutation. Premutation alleles are also mitotically unstable as mosaicism is observed. The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
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“FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome and whose locus at Xq27.3 coincides with the folate-sensitive fragile site (4, 5).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [5]
Citations
Cites
Hypervariable ‘minisatellite’ regions in human DNA
Jeffreys, A. J., Wilson, V., & Thein, S. L. (1985) · Nature · doi:10.1038/314067a0 · Cited by 3,771
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Self-citationInstability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Self-citationDNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
Edwards, A., Civitello, A. B., Hammond, H. A., & Caskey, C. T. (1991) · Europe PMC (PubMed Central) · Cited by 1,147
Self-citationMapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S., Schlessinger, D., Sutherland, G., & Richards, R. (1991) · Science · doi:10.1126/science.1675488 · Cited by 929
Self-citationFragile X Genotype Characterized by an Unstable Region of DNA
Yu, S., Pritchard, M. A., Kremer, E. J., Lynch, M., Nancarrow, J. K., Baker, E. G., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., et al. (1991) · Science · doi:10.1126/science.252.5009.1179 · Cited by 793
Self-citationJeffreys, A. J., Royle, N. J., Wilson, V., & Wong, Z. Y. H. (1988) · Nature · doi:10.1038/332278a0 · Cited by 759
Stark, G. R., & Wahl, G. M. (1984) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.53.070184.002311 · Cited by 583
Centre d'Etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
Dausset, J. B., Cann, H. M., Cohen, D., Lathrop, M. G., Lalouel, J.-M., & White, R. L. (1990) · Genomics · doi:10.1016/0888-7543(90)90491-c · Cited by 575
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Single pass sequencing and physical and genetic mapping of human brain cDNAs
Khan, A. S., Wilcox, A. S., Polymeropoulos, M. H., Hopkins, J. A., Stevens, T. J., Robinson, M., Orpana, A., & Sikela, J. M. (1992) · Nature Genetics · doi:10.1038/ng1192-180 · Cited by 171
Bodega, B., Bione, S., Dalprà, L., Toniolo, D., Ornaghi, F., Vegetti, W., Ginelli, E., & Marozzi, A. (2005) · Human Reproduction · doi:10.1093/humrep/dei432 · Cited by 172
Monaghan, K. G., Lyon, E., & Spector, E. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.61 · Cited by 173
Heitz, D., Devys, D., Imbert, G., Kretz, C., & Mandel, J. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.11.794 · Cited by 169
McConkie‐Rosell, A., Lachiewicz, A. M., Spiridigliozzi, G. A., Tarleton, J. C., Schoenwald, S., Phelan, M. C., Goonewardena, P., Ding, X., & Brown, W. T. (1993) · PubMed · Cited by 168
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E. G., Voullaire, L. E., Langdon, W. Y., Sutherland, G. N., Richards, R. I., & Tunnacliffe, A. (1995) · Nature · doi:10.1038/376145a0 · Cited by 168
Reelin gene alleles and susceptibility to autism spectrum disorders
Zhang, H., Liu, X., Zhang, C., Mundo, E., Macciardi, F. M., Grayson, D. R., Guidotti, A. R., & Holden, J. J. A. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001124 · Cited by 168
Self-citationMurray, A. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.6.727 · Cited by 166
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Sybert, V. P. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.217 · Cited by 162
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, P. J., & Tassone, F. (2009) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080174 · Cited by 164
Ranum, L. P. W., Chung, M., Banfi, S., Bryer, A., Schut, L. J., Ramesar, R., Duvick, L. A., McCall, A. E., Subramony, S. H., & Goldfarb, L. G. (1994) · PubMed Central · Cited by 164
McConkie‐Rosell, A., Finucane, B. M., Cronister, A., Abrams, L. J., Bennett, R. L., & Pettersen, B. J. (2005) · Journal of Genetic Counseling · doi:10.1007/s10508-005-0002-3 · Cited by 159
Tassone, F., Adams, J., Berry‐Kravis, E., Cohen, S., Brusco, A., Leehey, M. A., Li, L., Hagerman, R. J., & Hagerman, P. J. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30482 · Cited by 162
Oostra, B. A., & Willemsen, R. (2009) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2009.02.007 · Cited by 165
Self-citationJansen, G., Willems, P. J., Coerwinkel, M. M., Nillesen, W., Smeets, H. J. M., Vits, L., Höweler, C., Brunner, H. G., & Wieringa, B. (1994) · PubMed Central · Cited by 162
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
Ennis, S., Ward, D., & Murray, A. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201510 · Cited by 160
Tetraplex DNA and its interacting proteins
Fry, M. (2007) · Frontiers in bioscience · doi:10.2741/2391 · Cited by 159
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
Yazawa, I., Nukina, N., Hashida, H., Goto, J., Yamada, M., & Kanazawa, I. (1995) · Nature Genetics · doi:10.1038/ng0595-99 · Cited by 158
Chen, J., MERCIER, B., AUDREZET, M.-P., & Férec, C. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.67 · Cited by 157
Devys, D., Biancalana, V., Rousseau, F., Boué, J., Mandel, J., & Oberlé, I. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430134 · Cited by 157
Thauvin‐Robinet, C., Cossée, M., Cormier‐Daire, V., Maldergem, L. V., Toutain, A., Alembik, Y., Bieth, É., Layet, V., Parent, P., David, A., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2004.027672 · Cited by 156
Fragile X targeted pharmacotherapy: lessons learned and future directions
Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., Fitzpatrick, S. E., Brown, W. T., Budimirovic, D. B., Hagerman, R. J., et al. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9186-9 · Cited by 157
Molecular Genetics of Huntington's Disease
Gusella, J. F., MacDonald, M. E., Ambrose, C. M., & Duyao, M. P. (1993) · Archives of Neurology · doi:10.1001/archneur.1993.00540110037003 · Cited by 155
Chen, Y., Tassone, F., Berman, R. F., Hagerman, P. J., Hagerman, R. J., Willemsen, R., & Pessah, I. N. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp479 · Cited by 151
Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA
Sinden, R. R., Potaman, V. N., Oussatcheva, E. A., Pearson, C. E., Lyubchenko, Y. L., & Shlyakhtenko, L. S. (2002) · Journal of Biosciences · doi:10.1007/bf02703683 · Cited by 151
A human calcium-activated potassium channel gene expressed in vascular smooth muscle
McCobb, D. P., Fowler, N. L., Featherstone, T., Lingle, C. J., Saito, M. L., Krause, J. E., & Salkoff, L. (1995) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.1995.269.3.h767 · Cited by 151
Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.
Reiss, A. L., Freund, L. S., Abrams, M. T., Boehm, C. D., & Kazazian, H. H. (1993) · Europe PMC (PubMed Central) · Cited by 150
Molecular Predictors of Cognitive Involvement in Female Carriers of Fragile X Syndrome
Taylor, A. K. (1994) · JAMA · doi:10.1001/jama.1994.03510310037035 · Cited by 148
Human genes containing polymorphic trinucleotide repeats
Riggins, G. J., Lokey, L. K., Chastain, J. L., Leiner, H. A., Sherman, S. L., Wilkinson, K. D., & Warren, S. T. (1992) · Nature Genetics · doi:10.1038/ng1192-186 · Cited by 149
Self-citationPrevalence of the fragile X syndrome in African‐Americans
Crawford, D. C., Meadows, K. L., Newman, J. L., Taft, L. F., Scott, E., Leslie, M., Shubeck, L., Holmgreen, P., Yeargin‐Allsopp, M., Boyle, C. A., et al. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10427 · Cited by 147
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
Sabouri, L. A., Mahadevan, M. S., Narang, M. A., Lee, D. S. C., Surh, L. C., & Korneluk, R. G. (1993) · Nature Genetics · doi:10.1038/ng0793-233 · Cited by 146
Programmed cell death: Implications for neuropsychiatric disorders
Margolis, R. L., Chuang, D., & Post, R. M. (1994) · Biological Psychiatry · doi:10.1016/0006-3223(94)91241-6 · Cited by 143
Silvestri, G., Rana, M., Odoardi, F., Modoni, A., Paris, E., Papacci, M., Tonali, P., & Servidei, S. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000918)94:3 · Cited by 25
Current approaches for the treatment of premature ovarian failure with stem cell therapy
Sheikhansari, G., Maleki, L. A., Nouri, M., Jadidi‐Niaragh, F., & Yousefi, M. (2018) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2018.03.056 · Cited by 143
Instability of a (CGG)98 repeat in the Fmr1 promoter
Bontekoe, C. J. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.16.1693 · Cited by 143
SEX: DIFFERENCES IN MUTATION, RECOMBINATION, SELECTION, GENE FLOW, AND GENETIC DRIFT
Hedrick, P. W. (2007) · Evolution · doi:10.1111/j.1558-5646.2007.00250.x · Cited by 142
Association between idiopathic premature ovarian failure and fragile X premutation
Marozzi, A., Vegetti, W., Manfredini, E., Tibiletti, M. G., Testa, G., Crosignani, P. G., Ginelli, E., Meneveri, R., & Dalprà, L. (2000) · Human Reproduction · doi:10.1093/humrep/15.1.197 · Cited by 141
Whiteside, D., McLeod, R., Graham, G. E., Steckley, J. L., Booth, K., Somerville, M. J., & Andrew, S. E. (2002) · PubMed · Cited by 141
Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15
Mitas, M., Yu, A., Dill, J., Kamp, T. J., Chambers, E. J., & Haworth, I. S. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.6.1050 · Cited by 139
Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis
Nancarrow, J. K., Kremer, E. J., Holman, K., Eyre, H. J., Doggett, N. A., Paslier, D. L., Callen, D. F., Sutherland, G. R., & Richards, R. I. (1994) · Science · doi:10.1126/science.8009225 · Cited by 139
Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast
Shishkin, A. A., Voineagu, I., Matera, R. M., Cherng, N., Chernet, B. T., Krasilnikova, M. M., Narayanan, V., Lobachev, K. S., & Mirkin, S. M. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.06.017 · Cited by 138
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency
Streuli, I., Fraisse, T., Ibéchéole, V., Moix, I., Morris, M. A., & de Ziegler, D. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.07.007 · Cited by 139
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Sulovari, A., Li, R., Audano, P. A., Porubskỳ, D., Vollger, M. R., Logsdon, G. A., Warren, W. C., Pollen, A. A., Chaisson, M., Eichler, E. E., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1912175116 · Cited by 134
Microsatellite repeat instability and neurological disease
Brouwer, J. R., Willemsen, R., & Oostra, B. A. (2009) · BioEssays · doi:10.1002/bies.080122 · Cited by 144
Self-citationProfile of cognitive functioning in women with the fragile X mutation.
Bennetto, L., Taylor, A. K., Pennington, B. F., Porter, D., & Hagerman, R. J. (2001) · Neuropsychology · doi:10.1037/0894-4105.15.2.290 · Cited by 135
Autism: The Point of View from Fragile X Studies
Feinstein, C., & Reiss, A. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026000404855 · Cited by 140
Chen, L.-S. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg331 · Cited by 136
Gene conversion plays the major role in controlling the stability of large tandem repeats in yeast.
Gangloff, S., Zou, H., & Rothstein, R. J. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00517.x · Cited by 134
Characterization of molecular defects in xeroderma pigmentosum group C
Li, L., Bales, E. S., Peterson, C. A., & Legerski, R. J. (1993) · Nature Genetics · doi:10.1038/ng1293-413 · Cited by 136
Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group children
Gravholt, C. H., & Friedrich, U. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560124 · Cited by 135
Mulley, J. C., Yu, S., Loesch, D. Z., Hay, D. A., Donnelly, A., Gedeon, Á. K., Carbonell, P., López, I., Glover, G., & Gabarron, I. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.3.162 · Cited by 134
Myrick, L. K., Deng, P.-Y., Hashimoto, H., Oh, Y. M., Cho, Y., Poidevin, M. J., Suhl, J. A., Visootsak, J., Cavalli, V., Jin, P., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1423094112 · Cited by 133
Self-citationContribution of the FMR1 gene mutation to human intellectual dysfunction
Reiss, A. L., Freund, L. S., Baumgardner, T. L., Abrams, M. T., & DENCKLA, M. B. (1995) · Nature Genetics · doi:10.1038/ng1195-331 · Cited by 133
Brouwer, J. R., Mientjes, E., Bakker, C. E., Nieuwenhuizen, I. M., Severijnen, L.-A. W. F. M., van der Linde, H. C., Nelson, D. L., Oostra, B. A., & Willemsen, R. (2006) · Experimental Cell Research · doi:10.1016/j.yexcr.2006.10.002 · Cited by 140
Self-citationMolecular and cognitive predictors of the continuum of autistic behaviours in fragile X
Loesch, D. Z., Bui, M., Dissanayake, C., Clifford, S. M., Gould, E. L., Bulhak‐Paterson, D., Tassone, F., Taylor, A. K., Hessl, D. R., Hagerman, R. J., et al. (2006) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2006.09.007 · Cited by 136
Crawford, D. C., Meadows, K. L., Newman, J. L., Taft, L. F., Pettay, D., Gold, L. B., Hersey, S. J., Hinkle, E. F., Stanfield, M. L., Holmgreen, P., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302260 · Cited by 132
Jones, C., Slljepcevic, P., Marsh, S., Baker, E. G., Langdon, W. Y., Richards, R. I., & Tunnacliffe, A. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.12.2123 · Cited by 132
Frequencies and sequence characteristics of di-, tri-, and tetra-nucleotide microsatellites in wheat
Ma, Z., Röder, M. S., & Sorrells, M. E. (1996) · Genome · doi:10.1139/g96-017 · Cited by 130
Amygdala dysfunction in men with the fragile X premutation
Hessl, D. R., Rivera, S. M., Koldewyn, K., Cordeiro, L., Adams, J., Tassone, F., Hagerman, P. J., & Hagerman, R. J. (2006) · Brain · doi:10.1093/brain/awl338 · Cited by 132
Oudet, C. L., Mornet, É., Serre, J. L., Thomas, F., Lentes, S., Kretz, C., Deluchat, C., Tejada, I., Boué, J. G., & Boué, A. (1993) · Europe PMC (PubMed Central) · Cited by 129
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles
Semaka, A., Creighton, S., Warby, S. C., & Hayden, M. R. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00668.x · Cited by 133
Fragile X–associated tremor/ataxia syndrome in sisters related to X‐inactivation
Berry‐Kravis, E., Potanos, K. M., Weinberg, D., Zhou, L., & Goetz, C. G. (2004) · Annals of Neurology · doi:10.1002/ana.20360 · Cited by 128
Further delineation of the executive deficit in males with fragile-X syndrome
Wilding, J. P. H., Cornish, K. M., & Munir, F. (2002) · Neuropsychologia · doi:10.1016/s0028-3932(01)00212-3 · Cited by 128
Fragile X gene instability: anchoring AGGs and linked microsatellites.
Zhong, N., Yang, W., Dobkin, C., & Brown, W. T. (1995) · PubMed Central · Cited by 128
O’Donovan, M. C., Guy, C., Craddock, N. J., Bowen, T., McKeon, P., Macedo, A., Maier, W., Wildenauer, D. B., Aschauer, H. N., Sorbi, S., et al. (1996) · Psychological Medicine · doi:10.1017/s0033291700035868 · Cited by 127
Gleicher, N., Weghofer, A., & Barad, D. H. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.01.098 · Cited by 126
McMurray, C. T. (1995) · Chromosoma · doi:10.1007/bf00352220 · Cited by 126
Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles
Nolin, S. L., Sah, S., Glicksman, A., Sherman, S. L., Allen, E. G., Berry‐Kravis, E., Tassone, F., Yrigollen, C. M., Cronister, A., Jodah, M., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35833 · Cited by 129
Mechanism-based approaches to treating fragile X
Dölen, G., Carpenter, R. L., Ocain, T. D., & Bear, M. F. (2010) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2010.02.008 · Cited by 129
Social behavior and cortisol reactivity in children with fragile X syndrome
Hessl, D. R., Glaser, B., Dyer-Friedman, J., & Reiss, A. L. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01556.x · Cited by 123
Wöhrle, D., Salat, U., Hameister, H., Vogel, W., & Steinbach, P. J. (2001) · The American Journal of Human Genetics · doi:10.1086/322739 · Cited by 125
Spencer, K. (2000) · Prenatal Diagnosis · doi:10.1002/1097-0223(200008)20:8 · Cited by 36
Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene
Epplen, C., Epplen, J. T., Frank, G., Miterski, B., dos Santos, E. J. M., & Schöls, L. J. (1997) · Human Genetics · doi:10.1007/s004390050458 · Cited by 123
Co‐occurring diagnoses among FMR1 premutation allele carriers
Hunter, J. E., Rohr, J. K., & Sherman, S. L. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01317.x · Cited by 121
Of Men and Mice: Modeling the Fragile X Syndrome
Dahlhaus, R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00041 · Cited by 133
Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility
Voineagu, I., Surka, C., Shishkin, A. A., Krasilnikova, M. M., & Mirkin, S. M. (2009) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1527 · Cited by 122
Rohr, J. K., Allen, E. G., Charen, K. H., Giles, J. R., He, W., Dominguez, C. E., & Sherman, S. L. (2008) · Human Reproduction · doi:10.1093/humrep/den050 · Cited by 121
DNA structure, mutations, and human genetic disease
Sinden, R. R., & Wells, R. D. (1992) · Current Opinion in Biotechnology · doi:10.1016/0958-1669(92)90005-4 · Cited by 121
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
He, W., Yadav-Shah, M., Sherman, S. L., & Allen, E. G. (2004) · Human Genetics · doi:10.1007/s00439-004-1086-x · Cited by 120
Heritable unstable DNA sequences
Richards, R. I., & Sutherland, G. R. (1992) · Nature Genetics · doi:10.1038/ng0492-7 · Cited by 120
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique
Willemsen, R., Smits, A., Mohkamsing, S., van Beerendonk, H. M., de Haan, A. F. J., de Vries, B., van den Ouweland, A. M. W., Sistermans, E. A., GALJAARD, H., & Oostra, B. A. (1997) · Human Genetics · doi:10.1007/s004390050363 · Cited by 118
Self-citationPrimmer, C. R., Saino, N., Møller, A. P., & Ellegren, H. (1998) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a026003 · Cited by 123
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania
Puffenberger, E. G. (2003) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.20003 · Cited by 119
Knockout mouse model for Fxr2: a model for mental retardation
Bontekoe, C. J. M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.487 · Cited by 120
Dominantly inherited, non-coding microsatellite expansion disorders
Ranum, L. P. W., & Day, J. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00297-6 · Cited by 119
Handa, V. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg818 · Cited by 119
Cornish, K. M., Munir, F., & Cross, G. S. (2001) · Journal of Cognitive Neuroscience · doi:10.1162/089892901564126 · Cited by 118
Primary ovarian insufficiency: X chromosome defects and autoimmunity
Persani, L., Rossetti, R., Cacciatore, C., & Bonomi, M. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.03.004 · Cited by 118
Pietrobono, R. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf434 · Cited by 118
Spencer, C. M., Serysheva, E., Yuva‐Paylor, L. A., Oostra, B. A., Nelson, D. L., & Paylor, R. E. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl121 · Cited by 124
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Metadata
- Authors
- Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., Oostra, B. A., Nelson, D. L., & Caskey, C. T.
- Affiliations
- Howard Hughes Medical Institute (US)
- Queen's University (CA)
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1991-12
- Volume
- 67
- Issue
- 6
- Pages
- 1047-1058
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2167119720
- Cited by
- 2,080
- References
- 25
- Citations by year
- 2026: 12 · 2025: 23 · 2024: 36 · 2023: 22 · 2022: 31 · 2021: 41 · 2020: 43 · 2019: 37 · 2018: 49 · 2017: 34 · 2016: 65 · 2015: 56 · 2014: 78 · 2013: 68 · 2012: 70
- FWCI
- 58.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (HG00038)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 20521)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- fragile X syndrome, CGG repeat, FMR1 gene, premutation, repeat expansion, meiotic instability, mitotic instability, mosaicism, repeat length variation, oogenesis, intellectual disability
- MeSH terms
- Alleles, Base Sequence, Exons, Fragile X Syndrome, Genes, Humans, Meiosis, Methylation, Molecular Sequence Data, Mosaicism, Oligodeoxyribonucleotides, Pedigree, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, Risk Factors, X Chromosome, Restriction Mapping, Polymerase Chain Reaction
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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