-
1
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman RJ, Hagerman PJ: The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002, 12:278-283
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
2
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
3
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817-822
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
4
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, van Ommen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.P.10
Eussen, B.E.11
van Ommen, G.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
5
-
-
0004166950
-
-
Hagerman RJ, Hagerman PJ, eds, 3rd ed. Baltimore: The Johns Hopkins University Press
-
Hagerman RJ, Hagerman PJ, eds. Fragile X Syndrome: Diagnosis, Treatment, and Research, 3rd ed. Baltimore: The Johns Hopkins University Press 2002
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment, and Research
-
-
-
6
-
-
0042009485
-
Behavioral relationship between autism and fragile X syndrome
-
Demark JL, Feldman MA, Holden JJ: Behavioral relationship between autism and fragile X syndrome. Am J Ment Retard 2003, 108:314-326
-
(2003)
Am J Ment Retard
, vol.108
, pp. 314-326
-
-
Demark, J.L.1
Feldman, M.A.2
Holden, J.J.3
-
7
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
-
Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB Jr, Roberts J, Mirrett P: Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006, 140A:1804-1813
-
(2006)
Am J Med Genet A
, vol.140 A
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey Jr, D.B.5
Roberts, J.6
Mirrett, P.7
-
8
-
-
4444322917
-
Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
-
Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P: Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet A 2004, 129A:225-234
-
(2004)
Am J Med Genet A
, vol.129 A
, pp. 225-234
-
-
Kaufmann, W.E.1
Cortell, R.2
Kau, A.S.3
Bukelis, I.4
Tierney, E.5
Gray, R.M.6
Cox, C.7
Capone, G.T.8
Stanard, P.9
-
9
-
-
2442661885
-
The behavioral neurogenetics of fragile X syndrome: Analyzing gene-brain-behavior relationships in child developmental psychopathologies
-
Reiss AL, Dant CC: The behavioral neurogenetics of fragile X syndrome: analyzing gene-brain-behavior relationships in child developmental psychopathologies. Dev Psychopathol 2003, 15:927-968
-
(2003)
Dev Psychopathol
, vol.15
, pp. 927-968
-
-
Reiss, A.L.1
Dant, C.C.2
-
10
-
-
0035675794
-
The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
-
Rogers SJ, Wehner DE, Hagerman R: The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 2001, 22:409-417
-
(2001)
J Dev Behav Pediatr
, vol.22
, pp. 409-417
-
-
Rogers, S.J.1
Wehner, D.E.2
Hagerman, R.3
-
11
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Vaisanen ML, von Koskull H, Sherman SL: Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003, 72:454-464
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr, G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
Macpherson, J.13
Mandel, J.L.14
Matthijs, G.15
Rousseau, F.16
Steinbach, P.17
Vaisanen, M.L.18
von Koskull, H.19
Sherman, S.L.20
more..
-
12
-
-
0033942734
-
Survey of the fragile X syndrome CGG repeat and the shorttandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
-
Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, Carpenter NJ, Howard-Peebles PN, Monaghan KG, Nolin SL, Reiss AL, Feldman GL, Rohlfs EM, Warren ST, Sherman SL: Survey of the fragile X syndrome CGG repeat and the shorttandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet 2000, 66:480-493
-
(2000)
Am J Hum Genet
, vol.66
, pp. 480-493
-
-
Crawford, D.C.1
Schwartz, C.E.2
Meadows, K.L.3
Newman, J.L.4
Taft, L.F.5
Gunter, C.6
Brown, W.T.7
Carpenter, N.J.8
Howard-Peebles, P.N.9
Monaghan, K.G.10
Nolin, S.L.11
Reiss, A.L.12
Feldman, G.L.13
Rohlfs, E.M.14
Warren, S.T.15
Sherman, S.L.16
-
13
-
-
0033854462
-
-
Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL: Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum Mol Genet 2000, 9:1759-1769
-
Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL: Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum Mol Genet 2000, 9:1759-1769
-
-
-
-
14
-
-
0030008960
-
-
Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT: Fragile X gray zone alleles: aGG patterns, expansion risks, and associated haplotypes. Am J Med Genet 1996, 64:261-265
-
Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT: Fragile X "gray zone" alleles: aGG patterns, expansion risks, and associated haplotypes. Am J Med Genet 1996, 64:261-265
-
-
-
-
15
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL: Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994, 8:88-94
-
(1994)
Nat Genet
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
16
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994, 77:853-861
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
17
-
-
0029017085
-
Fragile X gene instability: Anchoring AGGs and linked microsatellites
-
Zhong N, Yang W, Dobkin C, Brown WT: Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 1995, 57:351-361
-
(1995)
Am J Hum Genet
, vol.57
, pp. 351-361
-
-
Zhong, N.1
Yang, W.2
Dobkin, C.3
Brown, W.T.4
-
18
-
-
38749141432
-
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
-
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49
-
(2008)
J Mol Diagn
, vol.10
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
Taylor, A.K.4
Hagerman, P.J.5
-
19
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047-1058
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick Jr, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
20
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown WT, Houck GE Jr, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC: Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993, 270:1569-1575
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr, G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
Henderson, J.8
Brooks, S.S.9
Jenkins, E.C.10
-
21
-
-
18544371505
-
Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
-
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ: Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001, 3:200-205
-
(2001)
Genet Med
, vol.3
, pp. 200-205
-
-
Maddalena, A.1
Richards, C.S.2
McGinniss, M.J.3
Brothman, A.4
Desnick, R.J.5
Grier, R.E.6
Hirsch, B.7
Jacky, P.8
McDowell, G.A.9
Popovich, B.10
Watson, M.11
Wolff, D.J.12
-
22
-
-
0034639857
-
Understanding the molecular basis of fragile X syndrome
-
Jin P, Warren ST: Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000, 9:901-908
-
(2000)
Hum Mol Genet
, vol.9
, pp. 901-908
-
-
Jin, P.1
Warren, S.T.2
-
23
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F: Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002, 11:371-78
-
(2002)
Hum Mol Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
24
-
-
1942440845
-
Expansion to full mutation of a FMR1 intermediate allele over two generations
-
Terracciano A, Pomponi MG, Marino GM, Chiurazzi P, Rinaldi MM, Dobosz M, Neri G: Expansion to full mutation of a FMR1 intermediate allele over two generations. Eur J Hum Genet 2004, 12:333-36
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 333-336
-
-
Terracciano, A.1
Pomponi, M.G.2
Marino, G.M.3
Chiurazzi, P.4
Rinaldi, M.M.5
Dobosz, M.6
Neri, G.7
-
25
-
-
27544439901
-
Expansion of an intermediate allele of the FMR1 gene in only two generations
-
Zuniga A, Juan J, Mila M, Guerrero A: Expansion of an intermediate allele of the FMR1 gene in only two generations. Clin Genet 2005, 68:471-73
-
(2005)
Clin Genet
, vol.68
, pp. 471-473
-
-
Zuniga, A.1
Juan, J.2
Mila, M.3
Guerrero, A.4
-
26
-
-
58349111158
-
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson Disease
-
Hall DA, Howard K, Hagerman R, Leehey MA. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson Disease. Parkinsonism Relat Disord 2009, 15:156-159
-
(2009)
Parkinsonism Relat Disord
, vol.15
, pp. 156-159
-
-
Hall, D.A.1
Howard, K.2
Hagerman, R.3
Leehey, M.A.4
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