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Molecular-neurobehavioral associations in females with the fragile X full mutation
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0027793938
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Mental status and fragile X expression in relation to FMR-1 gene mutation
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2742577476
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Mental status and FMR1 gene mutation in females
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Tromso, Norway
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De Vries BBA, Wiegers AM, Smits APT, Frijns J-P, Curfs LMG, van Oost BA, Halley DJJ, Oostra BA, van den Ouweland AMW, Niermeijer MF (1996): Mental status and FMR1 gene mutation in females. Seventh International Workshop on the Fragile X and X-linked Mental Retardation, Tromso, Norway.
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De Vries, B.B.A.1
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4
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0026649792
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Longitudinal changes in IQ among fragile X males: Clinical evidence of more than one mutation?
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Fisch GS, Shapiro LR, Simensen R, Schwartz CE, Fryns J-P, Borghgraef M, Curfs LM, Howard-Peebles PN, Arinami T, Mavrou A (1992): Longitudinal changes in IQ among fragile X males: Clinical evidence of more than one mutation? Am J Med Genet 43:28-34.
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Rater reliability of fragile X mutation size estimates: A multilaboratory analysis
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Fisch GS, Carpenter N, Maddalena A, Tarleton J, Julien-Inalsingh C, Holden JJA (1996): Rater reliability of fragile X mutation size estimates: A multilaboratory analysis. Am J Med Genet 64:319-322.
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High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
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Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Conner RA, Seydel C, Mazzocco MMM, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor AK (1994): High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308.
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7
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0027486670
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Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome
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McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT (1993): Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 53:800-609.
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8
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0028141919
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A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe Stb12.3: The first 2,253 cases
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Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schordoret DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL (1994): A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe Stb12.3: The first 2,253 cases. Am J Hum Genet 55:225-237.
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10
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0027253245
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Molecular-clinical correlations in children and adults with the fragile X syndrome
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Staley LW, Hull CE, Mazzocco MMM, Thibodeau SN, Snow K, Wilson VL, Taylor A, McGavran L, Weiner D, Riddle J, O'Conner R, Hagerman RJ (1993): Molecular-clinical correlations in children and adults with the fragile X syndrome. Am J Dis Child 147:723-726.
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Taylor, A.7
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O'Conner, R.11
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12
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84942951309
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Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
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Taylor AK, Safanda JF, Majilinde FZ, Quince C, Lang KA, Hull CE, Carpenter I, Staley LW, Hagerman RJ (1994): Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 271:507-514.
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14
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0025905795
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Bloden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Casket CT, Nelson DL, Oostra BA, Warren ST (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 65:905-914.
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Verkerk, A.J.M.H.1
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Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
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Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
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