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Examination of factors associated with instability of the FMR1 CGG repeat
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Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox
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Expansion of the CGG repeat in Fragile X in the FMR1 gene depends on the sex of the offspring
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Mosaicism for the Fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene
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Milà M, Castellví-bel S, Sánchez A, Lázaro C, Villa M and Estivill X (1996a) Mosaicism for the Fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet 33,338-340.
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A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
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Milà M, Castellví-Bel S, Giné R, Vázquez C, Badenas C, Sánchez A and Estivill X (1996b) A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. Hum Genet 98,419-421.
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Familial transmission of the FMR1 CGG repeat
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Nolin SL, Lewis FA, Ye LL, Houck GE, Glicksman AE, Limprasert P, Li SY, Zhong N, Ashley A, Feingold E et al. (1996) Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59,1252-1261.
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7
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0037320928
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Expansion of the Fragile X CGG repeat in females with premutation or intermediate alleles
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Nolin SL, Brown WT, Glicksman A, Houck GE, Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinki-Feder E et al (2003) Expansion of the Fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72,454-464.
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Absence of expression of the FMR1 gene in Fragile X syndrome
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0028141919
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Higher rate of transition from Fragile X premutations into full mutation in males than in females suggest post-conceptional expansion of the CGG repeats
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Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada et al. (1994) Higher rate of transition from Fragile X premutations into full mutation in males than in females suggest post-conceptional expansion of the CGG repeats. Am J Hum Genet 55 (2),225-237.
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Analysis of a CGG sequence at the FMR1 locus in Fragile X families and in the general population
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Fragile-X syndrome: Unique genetics of the heritable unstable element
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