The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
Cited by
Sorted by citations
Items 701–800 of 1,005
Carrier testing in fragile X syndrome: Effect on self-concept
McConkie‐Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000619)92:5 · Cited by 40
Maciel, P., Gaspar, C., Guimarães, L., Goto, J., Lopes‐Cendes, Í., Hayes, S. M., Arvidsson, K., Dias, A., Sequeiros, J., Sousa, A., et al. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200264 · Cited by 40
Homosexuality, type 1: An Xq28 phenomenon
Turner, W. J. (1995) · Archives of Sexual Behavior · doi:10.1007/bf01541577 · Cited by 40
Bruyèrè, H., Lewis, M. E. S., Wood, S. L., MacLeod, P. J., & Langlois, S. (1999) · Clinical Genetics · doi:10.1034/j.1399-0004.1999.550305.x · Cited by 40
Fragile X Premutations Are Not a Major Cause of Early Menopause
Kenneson, A., Cramer, D. W., & Warren, S. T. (1997) · The American Journal of Human Genetics · doi:10.1086/301647 · Cited by 40
Self-citationHeads‐up: New roles for the fragile X mental retardation protein in neural stem and progenitor cells
Callan, M. A., & Zarnescu, D. C. (2011) · genesis · doi:10.1002/dvg.20745 · Cited by 39
Modeling dopamine dysfunction in autism spectrum disorder: from invertebrates to vertebrates
DiCarlo, G. E., & Wallace, M. T. (2022) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.12.017 · Cited by 39
Kenkel, W. M., Yee, J. R., Moore, K., Madularu, D., Kulkarni, P., Gamber, K., Nedelman, M., & Ferris, C. F. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.15 · Cited by 39
Liang, Q., Liu, Y., Liu, Y., Duan, R., Meng, W., Zhan, J., Xia, J., Mao, A., Liang, D., & Wu, L. (2022) · Clinical Chemistry · doi:10.1093/clinchem/hvac154 · Cited by 40
Kumari, D., Gabrielian, A. E., Wheeler, D. A., & Usdin, K. (2005) · Biochemical Journal · doi:10.1042/bj20041124 · Cited by 39
Expansion to full mutation of a FMR1 intermediate allele over two generations
Terracciano, A., Pomponi, M. G., Marino, G. M. E., Chiurazzi, P., Rinaldi, M. M., Dobosz, M., & Neri, G. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201154 · Cited by 41
Genes and Genetic Testing in Hereditary Ataxias
Sandford, E., & Burmeister, M. (2014) · Genes · doi:10.3390/genes5030586 · Cited by 40
A multidisciplinary approach to the management of individuals with fragile X syndrome
Alanay, Y., Ünal, F., Turanlı, G., Alikaşifoğlu, M., Alehan, D., Akyol, U., Belgi̇n, E., Şener, C., Aktaş, D., Boduroğlu, K., et al. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00942.x · Cited by 44
Kumari, D., & Usdin, K. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu378 · Cited by 38
Epigenetic inheritance based on DNA methylation
Holliday, R. (1993) · Birkhäuser Basel eBooks · doi:10.1007/978-3-0348-9118-9_20 · Cited by 39
Genetic Mechanisms in Childhood Psychiatric Disorders
Lombroso, P. J., Pauls, D. L., & Leckman, J. F. (1994) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199409000-00001 · Cited by 39
Oostra, B. A., & Willems, P. J. (1995) · BioEssays · doi:10.1002/bies.950171107 · Cited by 40
Self-citationLavedan, C. N., Garrett, L. J., & Nussbaum, R. L. (1997) · Human Genetics · doi:10.1007/s004390050525 · Cited by 39
Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation
Summers, S., Cogswell, J. B., Goodrich, J. E., Mu, Y., Nguyen, D., Brass, S. D., & Hagerman, R. J. (2013) · Clinical Genetics · doi:10.1111/cge.12249 · Cited by 38
Advanced technologies for the molecular diagnosis of fragile X syndrome
Tassone, F. (2015) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2015.1101348 · Cited by 38
Schüttler, J., Peng, Z., Zimmer, J., Sinn, H., von Hagens, C., Strowitzki, T., & Vogt, P. H. (2011) · Human Reproduction · doi:10.1093/humrep/der018 · Cited by 38
Presynaptic protein synthesis and brain plasticity: From physiology to neuropathology
Perrone‐Capano, C., Volpicelli, F., Penna, E., Chun, J. T., & Crispino, M. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2021.102051 · Cited by 37
Immunohistochemical FMRP studies in a full mutated female fetus
Rife, M. F., Nadal, A., Milà, M., & Willemsen, R. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20342 · Cited by 38
Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
Geršak, K. (2003) · Human Reproduction · doi:10.1093/humrep/deg327 · Cited by 38
A novel expression based approach for assessing the inactivation status of human X-linked genes
Benjamin, D., van Bakel, I., & Craig, I. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200427 · Cited by 38
Han, X., Powell, B. R., Phalin, J., & Chehab, F. F. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31291 · Cited by 38
Population Based Prenatal Screening for the Fragile X Syndrome
Palomaki, G. E. (1994) · Journal of Medical Screening · doi:10.1177/096914139400100112 · Cited by 38
Mitchell, J. E., Newbury, S. F., & McClellan, J. A. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.11.1876 · Cited by 38
Oostra, B. A., & Verkerk, A. J. M. H. (1992) · Chromosoma · doi:10.1007/bf00582832 · Cited by 38
Self-citationFragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?
Zhong, N., Ye, L., Dobkin, C., & Brown, W. T. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510421 · Cited by 38
Effect of in vitro promoter methylation and CGG repeat expansion on FMR- 1 expression
Sandberg, G. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.14.2883 · Cited by 38
Fragile X syndrome: The molecular picture comes into focus
Richards, R. I., & Sutherland, G. R. (1992) · Trends in Genetics · doi:10.1016/0168-9525(92)90395-k · Cited by 38
Tsui, L., & Steve, W. S. (2001) · Biotechnology Set · doi:10.1002/9783527620999.ch2e · Cited by 38
FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese
Guo, T., Qin, Y., Jiao, X., Li, G., Simpson, J. L., & Chen, Z. (2014) · PLoS ONE · doi:10.1371/journal.pone.0103316 · Cited by 37
Hunsaker, M. R., Greco, C., Tassone, F., Berman, R. F., Willemsen, R., Hagerman, R. J., & Hagerman, P. J. (2011) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31821d3194 · Cited by 37
Intron-Mediated RNA Interference, Intronic MicroRNAs, and Applications
Ying, S., Chang, C. P., & Lin, S.-L. (2010) · Methods in molecular biology · doi:10.1007/978-1-60761-657-3_14 · Cited by 41
Fragile X Mental Retardation-1 Knockout Zebrafish Shows Precocious Development in Social Behavior
Wu, Y.-J., Hsu, M.-T., Ng, M.-C., Amstislavskaya, T. G., Tikhonova, M. A., Yang, Y.-L., & Lu, K. (2017) · Zebrafish · doi:10.1089/zeb.2017.1446 · Cited by 35
The Role of Non-Coding RNAs in Neurodevelopmental Disorders
Zhang, S.-F., Gao, J., & Liu, C. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01033 · Cited by 40
Garribba, L., Bjerregaard, V. A., Dinis, M. M. G., Özer, Ö., Wu, W., Sakellariou, D., Peña-Dı́az, J., Hickson, I. D., & Liu, Y. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1921219117 · Cited by 37
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk
Bustos, B. I., Billingsley, K. J., Blauwendraat, C., Gibbs, J. R., Gan‐Or, Z., Krainc, D., Singleton, A., & Lubbe, S. J. (2022) · Brain · doi:10.1093/brain/awac301 · Cited by 39
The Genetics of Childhood Psychiatric Disorders: A Decade of Progress
State, M. W., Lombroso, P. J., Pauls, D. L., & Leckman, J. F. (2000) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200008000-00006 · Cited by 39
Crawford, D. C. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.12.1759 · Cited by 37
Physiopathological determinants of human infertility
The ESHRE Capri Workshop Group (2002) · Human Reproduction Update · doi:10.1093/humupd/8.5.435 · Cited by 37
Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression
Grønskov, K., Hjalgrim, H., Bjerager, M. O., & Brøndum‐Nielsen, K. (1997) · The American Journal of Human Genetics · doi:10.1086/514872 · Cited by 37
Goldson, E., & Hagerman, R. J. (1992) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1992.tb11521.x · Cited by 37
Luo, S., Robinson, J. C., Reiss, A. L., & Migeon, B. R. (1993) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01232750 · Cited by 37
Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
Nanba, E., Kohno, Y., Matsuda, A., Yano, M., Sato, C., Hashimoto, K., Koeda, T., Yoshino, K., Kimura, M., Maeoka, Y., et al. (1995) · Brain and Development · doi:10.1016/0387-7604(95)00031-6 · Cited by 37
Pizzuti, A., Friedman, D. L., & Caskey, C. T. (1993) · Archives of Neurology · doi:10.1001/archneur.1993.00540110053005 · Cited by 37
Self-citationHaplotype analysis at the FRAXA locus in the Japanese population
Richards, R. I., Kondo, I., Holman, K., Yamauchi, M., Seki, N., Kishi, K., Staples, A., Sutherland, G. R., & Hori, T.-A. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510422 · Cited by 37
Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
Levinson, G., Maddalena, A., Palmer, F. T., Harton, G., Bick, D. P., Howard‐Peebles, P. N., Black, S. H., & Schulman, J. D. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510448 · Cited by 37
Spath, M. A., Feuth, T., Allen, E. G., Smits, A. P. T., Yntema, H. G., van Kessel, A. G., Braat, D. D. M., Sherman, S. L., & Thomas, C. M. G. (2011) · Human Reproduction · doi:10.1093/humrep/der146 · Cited by 36
Predictors and risk model development for menopausal age in fragile X premutation carriers
Spath, M. A., Feuth, T. B., Smits, A. P. T., Yntema, H. G., Braat, D. D. M., Thomas, C. M. G., van Kessel, A. G., Sherman, S. L., & Allen, E. G. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821705e5 · Cited by 37
Close encounters: Moving along bumps, breaks, and bubbles on expanded trinucleotide tracts
Polyzos, A. A., & McMurray, C. T. (2017) · DNA repair · doi:10.1016/j.dnarep.2017.06.017 · Cited by 35
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
Boutouyrie, P., Laurent, S., Laloux, B., Lidove, O., Grünfeld, J., & Germain, D. P. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.9.629 · Cited by 36
Nørremølle, A., Sørensen, S. A., Fenger, K., & Hasholt, L. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb03941.x · Cited by 36
Kinetics of double-chain reversals bridging contiguous quartets in tetramolecular quadruplexes
Mergny, J. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl098 · Cited by 36
New insights of altered lipid profile in Fragile X Syndrome
Çaku, A., Seidah, N. G., Lortie, A., Gagné, N., Perron, P., Dubé, J., & Corbin, F. (2017) · PLOS ONE · doi:10.1371/journal.pone.0174301 · Cited by 36
Genetic Anticipation: Expanding Tandem Repeats
Carpenter, N. (1994) · Neurologic Clinics · doi:10.1016/s0733-8619(18)30071-9 · Cited by 29
Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours
Kahnoski, K., Khoo, S. K., Nassif, N. T., Chen, J., Lobo, G. P., Segelov, E., & Teh, B. T. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.511 · Cited by 36
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.
Ashley‐Koch, A. E., & Sherman, S. L. (1995) · PubMed Central · Cited by 36
In Vitro Expansion of GGC:GCC Repeats: Identification of the Preferred Strand of Expansion
Ji, J., Clegg, N. J., Peterson, K. R., Jackson, A. L., Laird, C. D., & Loeb, L. A. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.14.2835 · Cited by 37
Turk, J. (2011) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e328349bb77 · Cited by 35
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders
Usdin, K., & Kumari, D. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00192 · Cited by 35
Capturing the fragile X premutation phenotypes: A collaborative effort across multiple cohorts.
Hunter, J. E., Sherman, S. L., Grigsby, J., Kogan, C. S., & Cornish, K. M. (2012) · Neuropsychology · doi:10.1037/a0026799 · Cited by 36
Gandhi, R. M., Kogan, C. S., & Messier, C. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00070 · Cited by 36
Voorhuis, M., Onland‐Moret, N. C., Janse, F., van Amstel, H. K. P., Goverde, A. J., Lambalk, C. B., Laven, J. S. E., van der Schouw, Y. T., Broekmans, F. J., Fauser, B. C. J. M., et al. (2014) · Human Reproduction · doi:10.1093/humrep/deu095 · Cited by 37
Koon, A. C., & Chan, H. Y. E. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00070 · Cited by 36
Klusek, J., Hong, J., Sterling, A. M., Berry‐Kravis, E., & Seltzer, M. M. (2019) · Brain and Cognition · doi:10.1016/j.bandc.2019.105511 · Cited by 35
Cosmetic Therapies in Obstetrics and Gynecology Practice: Putting a Toe in the Water?
Laube, D. W. (2008) · Obstetrics and Gynecology · doi:10.1097/gim.0b013e3181862a76 · Cited by 35
Richard, G., Cyncynatus, C., & Dujon, B. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(02)01405-5 · Cited by 35
Chen, Y., Jhan, C., Neidle, S., & Hou, M. (2014) · Angewandte Chemie International Edition · doi:10.1002/anie.201405637 · Cited by 35
FMR1 CGG-Repeat Instability in Single Sperm and Lymphocytes of Fragile-X Premutation Males
Nolin, S. L., Houck, G. E., Gargano, A. D., Blumstein, H., Dobkin, C., & Brown, W. T. (1999) · The American Journal of Human Genetics · doi:10.1086/302543 · Cited by 37
Kelly, T. E., Blanton, S. H., SAIF, R., SANJAD, S. A., & SAKATI, N. A. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.63 · Cited by 35
Greicius, M. D., Anderson, J. M. B., Menon, V., & Reiss, A. L. (2004) · Neuroreport · doi:10.1097/01.wnr.0000134472.44362.be · Cited by 35
Comparative Genetics of Functional Trinucleotide Tandem Repeats in Humans and Apes
Andrés, A. M., Soldevila, M., Lao, Ó., Volpini, V., Saitou, N., Jacobs, H. T., Hayasaka, I., Calafell, F., & Bertranpetit, J. (2004) · Journal of Molecular Evolution · doi:10.1007/s00239-004-2628-5 · Cited by 34
Richard, G.-F., & Dujon, B. (1996) · Gene · doi:10.1016/0378-1119(96)00514-8 · Cited by 39
FRAXE expansion is not a common etiological factor among developmentally delayed males.
Allingham‐Hawkins, D., & Ray, P. N. (1995) · Europe PMC (PubMed Central) · Cited by 35
Triplet repeat disorders: discussion of molecular mechanisms
Timchenko, L., & Caskey, C. T. (1999) · Cellular and Molecular Life Sciences · doi:10.1007/s000180050383 · Cited by 35
Self-citationAn n-allele model for progressive amplification in the FMR1 locus.
Morris, A., Morton, N. E., Collins, A. R., Macpherson, J., Nelson, D. L., & Sherman, S. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.11.4833 · Cited by 35
Self-citationGrigsby, J. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1184652 · Cited by 34
Rupar, C. A., Matsell, D. G., Surry, S., & Siu, V. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.9.615 · Cited by 34
Kim, S.-Y., Burris, J., Bassal, F., Koldewyn, K., Chattarji, S., Tassone, F., Hessl, D. R., & Rivera, S. M. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs341 · Cited by 39
The role of genetic and autoimmune factors in premature ovarian failure
Shamilova, N. N., Marchenko, L. A., Dolgushina, N. V., Zaletaev, D. V., & Sukhikh, G. T. (2013) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-013-9974-4 · Cited by 34
Chromatin structure of human chromosomal fragile sites
Wang, Y. (2005) · Cancer Letters · doi:10.1016/j.canlet.2005.07.040 · Cited by 34
A small molecule regulates hairpin structures in d(CGG) trinucleotide repeats
Hagihara, M., He, H., Kimura, M., & Nakatani, K. (2012) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2012.01.030 · Cited by 34
Entezam, A., & Usdin, K. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp666 · Cited by 34
Fragile X syndrome. Molecular and clinical insights and treatment issues.
Hagerman, R. J. (1997) · Europe PMC (PubMed Central) · Cited by 33
Steiner, C. E., Guerreiro, M. M., & Marques‐de‐Faria, A. P. (2003) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2003000200003 · Cited by 34
Schrier, M., Severijnen, L., Reis, S. A., Rife, M. F., VANTPADJE, S., VANCAPPELLEN, G., Oostra, B. A., & Willemsen, R. (2004) · Experimental Neurology · doi:10.1016/j.expneurol.2004.05.039 · Cited by 34
Self-citationA novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
Armour, C. M., McCready, M. E., Baig, A., Hunter, A. G. W., & Bulman, D. E. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.186 · Cited by 34
Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country
Barasoain, M., Barrenetxea, G., Huerta, I., Télez, M., Carrillo, A., Pérez, C. I. D., Criado, M. B., & Arrieta, I. (2013) · Gene · doi:10.1016/j.gene.2013.03.032 · Cited by 33
Low-normal FMR1 CGG repeat length: phenotypic associations
Seltzer, M. M., Hong, J., Rathouz, P. J., Baker, M. W., Greenberg, J. S., DaWalt, L. S., & Maenner, M. J. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00309 · Cited by 33
Fragile X syndrome and connective tissue dysregulation
Ramírez‐Cheyne, J., Duque, G. A., Ayala‐Zapata, S., Saldarriaga, W., Hagerman, P. J., Hagerman, R. J., & Payán‐Gómez, C. (2018) · Clinical Genetics · doi:10.1111/cge.13469 · Cited by 33
Incomplete penetrance and variable expressivity: is there a microRNA connection?
Ahluwalia, J. K., Hariharan, M., Bargaje, R., Pillai, B., & Brahmachari, V. (2009) · BioEssays · doi:10.1002/bies.200900066 · Cited by 31
Conservation of CGG region in FMR1 gene in mammals
Deelen, W. H., Bakker, C. E., Halley, D. J. J., & Oostra, B. A. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510445 · Cited by 33
Self-citationDetection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery
Allen, E. G., Juncos, J. L., Letz, R., Rusin, M. J., Hamilton, D., Novak, G., Shubeck, L., Tinker, S. W., & Sherman, S. L. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.054676 · Cited by 33
Martin, J. R., & Arici, A. M. (2008) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e3282fe7254 · Cited by 36
Schaer, M., & D, S. E. M. (2007) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2007.02.002 · Cited by 33
Fragile X Syndrome: A Model of Gene-Brain-Behavior Relationships
Hagerman, R. J., & Hagerman, P. J. (2001) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2001.3225 · Cited by 33
Angers, M. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.16.e83 · Cited by 33
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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review