-
1
-
-
0028234805
-
Molecular-neurobehavioral associations in females with the fragile X full mutation
-
Abrams MT, Reiss AR, Freund LS, Baumgardner TL, Chase GA, Denckla MB (1994): Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J Med Genet 51: 317-327.
-
(1994)
Am J Med Genet
, vol.51
, pp. 317-327
-
-
Abrams, M.T.1
Reiss, A.R.2
Freund, L.S.3
Baumgardner, T.L.4
Chase, G.A.5
Denckla, M.B.6
-
2
-
-
0029070562
-
Specifications of the neurobehavioral phenotype in males with fragile X syndrome
-
Baumgardner TL, Reiss AL, Freund LS, Abrams MT (1995): Specifications of the neurobehavioral phenotype in males with fragile X syndrome. Pediatrics 95:744-752.
-
(1995)
Pediatrics
, vol.95
, pp. 744-752
-
-
Baumgardner, T.L.1
Reiss, A.L.2
Freund, L.S.3
Abrams, M.T.4
-
3
-
-
0025970882
-
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
-
Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, Jacobs PA (1991): Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell 64:861-866.
-
(1991)
Cell
, vol.64
, pp. 861-866
-
-
Bell, M.V.1
Hirst, M.C.2
Nakahori, Y.3
MacKinnon, R.N.4
Roche, A.5
Flint, T.J.6
Jacobs, P.A.7
-
4
-
-
0027375451
-
Fragile X carrier screening and prenatal diagnosis, a rapid non-radioactive PCR test
-
Brown WT, Houck GE, Jeziozowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC (1993): Fragile X carrier screening and prenatal diagnosis, a rapid non-radioactive PCR test. JAMA 270:1569-1575.
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck, G.E.2
Jeziozowska, 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
-
5
-
-
0002402028
-
Rating scales for use in drug studies with children
-
Conners CK (1973): Rating scales for use in drug studies with children. Psychopharmacol Bull: 24-84, 219-222.
-
(1973)
Psychopharmacol Bull
, pp. 24-84
-
-
Conners, C.K.1
-
6
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister A, Schreiner R, Wittenberger M, Amiri K, Harris K, Hagerman RJ (1991): Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. Am J Med Genet 38: 269-274.
-
(1991)
Am J Med Genet
, vol.38
, pp. 269-274
-
-
Cronister, A.1
Schreiner, R.2
Wittenberger, M.3
Amiri, K.4
Harris, K.5
Hagerman, R.J.6
-
7
-
-
0027793938
-
Mental status and fragile X expression in relation to FMR1 gene mutation
-
de Vries BBA, Wiegers AM, de Graaff E, Verkerk AJMH, Van Hemel JO, Halley DJJ, Fryns J-P, Curfs LMG, Niermeijer MF, Oostra BA (1993): Mental status and fragile X expression in relation to FMR1 gene mutation. Eur J Hum Genet 1:72-79.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 72-79
-
-
De Vries, B.B.A.1
Wiegers, A.M.2
De Graaff, E.3
Verkerk, A.J.M.H.4
Van Hemel, J.O.5
Halley, D.J.J.6
Fryns, J.-P.7
Curfs, L.M.G.8
Niermeijer, M.F.9
Oostra, B.A.10
-
8
-
-
0027176361
-
The FMR1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL (1993): The FMR1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340.
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
9
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST (1995): Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
10
-
-
0027511297
-
Psychiatric disorders associated with fragile X in the young female
-
Freund LS, Reiss AL, Abrams M (1993): Psychiatric disorders associated with fragile X in the young female. Pediatrics 91:321-329.
-
(1993)
Pediatrics
, vol.91
, pp. 321-329
-
-
Freund, L.S.1
Reiss, A.L.2
Abrams, M.3
-
11
-
-
0029549970
-
Preliminary report on cognitive and adaptive behaviors of preschool males with fragile X
-
Freund LS, Peebles CD, Aylward E, Reiss AL (1995): Preliminary report on cognitive and adaptive behaviors of preschool males with fragile X. Dev Brain Dysfunct 8:242-251.
-
(1995)
Dev Brain Dysfunct
, vol.8
, pp. 242-251
-
-
Freund, L.S.1
Peebles, C.D.2
Aylward, E.3
Reiss, A.L.4
-
12
-
-
0026345716
-
Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y, Kuhl D, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey DT (1991): Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.1
Kuhl, D.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, D.T.13
-
13
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Cronister A (eds): Baltimore: Johns Hopkins University Press
-
Hagerman RJ (1996): Physical and behavioral phenotype. In Hagerman RJ, Cronister A (eds): "The Fragile X Syndrome: Diagnosis, Treatment and Research." 2nd edition. Baltimore: Johns Hopkins University Press, pp 3-87.
-
(1996)
"The Fragile X Syndrome: Diagnosis, Treatment and Research." 2nd Edition
, pp. 3-87
-
-
Hagerman, R.J.1
-
14
-
-
0026500880
-
Girls with fragile X syndrome: Physical and neurocognitive status and outcome
-
Hagerman RJ, Jackson C, Amiri K, Cronister-Silverman A, O'Connor R, Sobesky W (1992): Girls with fragile X syndrome: Physical and neurocognitive status and outcome. Pediatrics 89:395-400.
-
(1992)
Pediatrics
, vol.89
, pp. 395-400
-
-
Hagerman, R.J.1
Jackson, C.2
Amiri, K.3
Cronister-Silverman, A.4
O'Connor, R.5
Sobesky, W.6
-
15
-
-
0028264043
-
High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR1 mutation associated with protein expression
-
Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MM, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor AK (1994): High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR1 mutation associated with protein expression. Am J Med Genet 51: 298-308.
-
(1994)
Am J Med Genet
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
O'Connor, R.A.6
Seydel, C.7
Mazzocco, M.M.8
Snow, K.9
Thibodeau, S.N.10
Kuhl, D.11
Nelson, D.L.12
Caskey, C.T.13
Taylor, A.K.14
-
16
-
-
0026462708
-
Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
-
Heitz D, Devys D, Imbert G, Kretz C, Mandel JL (1992): Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 29: 794-801.
-
(1992)
J Med Genet
, vol.29
, pp. 794-801
-
-
Heitz, D.1
Devys, D.2
Imbert, G.3
Kretz, C.4
Mandel, J.L.5
-
17
-
-
0027383339
-
A study of the physical, behavioral and medical phenotype, including anthropometric measures, of females with fragile X syndrome
-
Hull C, Hagerman RJ (1993): A study of the physical, behavioral and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Dis Child 147:1236-1241.
-
(1993)
Am J Dis Child
, vol.147
, pp. 1236-1241
-
-
Hull, C.1
Hagerman, R.J.2
-
18
-
-
0026689695
-
Molecular studies of the fragile X syndrome
-
Knight S, Hirst M, Roche A, Christodoulou Z, Huson SM, Winter R, Fitchett M, McKinley MJ, Lindenbaum RH, Nakahori Y, Davies KE (1992): Molecular studies of the fragile X syndrome. Am J Med Genet 43:217-223.
-
(1992)
Am J Med Genet
, vol.43
, pp. 217-223
-
-
Knight, S.1
Hirst, M.2
Roche, A.3
Christodoulou, Z.4
Huson, S.M.5
Winter, R.6
Fitchett, M.7
McKinley, M.J.8
Lindenbaum, R.H.9
Nakahori, Y.10
Davies, K.E.11
-
19
-
-
0027361706
-
Genotype-phenotype relationships in fragile X syndrome: A family study
-
Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland GR (1993): Genotype-phenotype relationships in fragile X syndrome: A family study. Am J Hum Genet 53:1064-1073.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1064-1073
-
-
Loesch, D.Z.1
Huggins, R.2
Hay, D.A.3
Gedeon, A.K.4
Mulley, J.C.5
Sutherland, G.R.6
-
20
-
-
0028237294
-
Transmitting males and carrier females in fragile X-Revisited
-
Loesch DZ, Hay DA, Mulley J (1994): Transmitting males and carrier females in fragile X-Revisited. Am J Med Genet 51:392-399.
-
(1994)
Am J Med Genet
, vol.51
, pp. 392-399
-
-
Loesch, D.Z.1
Hay, D.A.2
Mulley, J.3
-
21
-
-
0029160737
-
Growth in stature in fragile X families: A mixed longitudinal study
-
Loesch DZ, Huggins RM, Hoang NH (1995): Growth in stature in fragile X families: A mixed longitudinal study. Am J Med Genet 58: 249-256.
-
(1995)
Am J Med Genet
, vol.58
, pp. 249-256
-
-
Loesch, D.Z.1
Huggins, R.M.2
Hoang, N.H.3
-
22
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
-
Mazzocco MM, Pennington BF, Hagerman RJ (1993): The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity. J Dev Behav Pediatr 14:328-335.
-
(1993)
J Dev Behav Pediatr
, vol.14
, pp. 328-335
-
-
Mazzocco, M.M.1
Pennington, B.F.2
Hagerman, R.J.3
-
23
-
-
0027486670
-
Evidence that methylation of the FMR1 locus is responsible for variable phenotypic expression of the fragile X syndrome
-
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 FMR1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 53:800-809.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 800-809
-
-
McConkie-Rosell, A.1
Lachiewicz, A.M.2
Spiridigliozzi, G.A.3
Tarleton, J.4
Schoenwald, S.5
Phelan, M.C.6
Goonewardena, P.7
Ding, X.8
Brown, W.T.9
-
24
-
-
0027946115
-
Fragile X syndrome in a normal IQ male with learning and emotional problems
-
Merenstein SA, Shyu V, Sobesky WE, Staley L, Berry-Kravis E, Nelson D, Lugenbeel KA, Taylor AK, Pennington BF, Hagerman RJ (1994): Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry 33: 1316-1321.
-
(1994)
J Am Acad Child Adolesc Psychiatry
, vol.33
, pp. 1316-1321
-
-
Merenstein, S.A.1
Shyu, V.2
Sobesky, W.E.3
Staley, L.4
Berry-Kravis, E.5
Nelson, D.6
Lugenbeel, K.A.7
Taylor, A.K.8
Pennington, B.F.9
Hagerman, R.J.10
-
25
-
-
0026339303
-
Instability 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 MF, Mandel JL (1991): Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boué, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
27
-
-
0027482074
-
Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
-
Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H (1993): Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. Am J Hum Genet 52:884-894.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 884-894
-
-
Reiss, A.L.1
Freund, L.2
Abrams, M.T.3
Boehm, C.4
Kazazian, H.5
-
28
-
-
0028070159
-
Neuroanatomy of fragile X syndrome: The temporal lobe
-
Reiss AL, Lee J, Freund L (1994): Neuroanatomy of fragile X syndrome: The temporal lobe. Neurology 44:1317-1324.
-
(1994)
Neurology
, vol.44
, pp. 1317-1324
-
-
Reiss, A.L.1
Lee, J.2
Freund, L.3
-
29
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagern C, Delozier-Blanchet C, Croquette MI, Gilgenkrantz S, Jalbert P, Voelkel MA, Oberlé I, Mandel JL (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boué, J.6
Tommerup, N.7
Van Der Hagern, C.8
Delozier-Blanchet, C.9
Croquette, M.I.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelkel, M.A.13
Oberlé, I.14
Mandel, J.L.15
-
30
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome using direct diagnosis with probe StB 12.3: The first 2253 cases
-
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 JA, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL (1994a): A multicenter study on genotype-phenotype correlations in the fragile X syndrome using direct diagnosis with probe StB 12.3: The first 2253 cases. Am J Hum Genet 55:225-237.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
MacPherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicoat, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
Maddalena, A.11
Spiegel, R.12
Schinzel, A.13
Marcos, J.A.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo, S.18
Jacobs, P.A.19
Schwartz, C.20
Mandel, J.L.21
more..
-
31
-
-
0028305242
-
No mental retardation in a man with 40% abnormal methylation at the FMR1 locus and transmission of sperm cell mutations as premutations
-
Rousseau F, Robb LJ, Rouillard P, Der Kaloustian VM (1994b): No mental retardation in a man with 40% abnormal methylation at the FMR1 locus and transmission of sperm cell mutations as premutations. Hum Mol Genet 6:927-930.
-
(1994)
Hum Mol Genet
, vol.6
, pp. 927-930
-
-
Rousseau, F.1
Robb, L.J.2
Rouillard, P.3
Der Kaloustian, V.M.4
-
33
-
-
0027253245
-
Molecular/clinical correlations in fragile X children and adults
-
Staley L, Hull C, Mazzocco MM, Thibodeau SN, Snow K, Wilson VL, Taylor A, McGavran L, Weiner D, Riddle J, O'Connor R, Hagerman RJ (1993): Molecular/clinical correlations in fragile X children and adults. Am J Dis Child 147:723-726.
-
(1993)
Am J Dis Child
, vol.147
, pp. 723-726
-
-
Staley, L.1
Hull, C.2
Mazzocco, M.M.3
Thibodeau, S.N.4
Snow, K.5
Wilson, V.L.6
Taylor, A.7
McGavran, L.8
Weiner, D.9
Riddle, J.10
O'Connor, R.11
Hagerman, R.J.12
-
34
-
-
0345728505
-
Molecular and phenotypic studies of fragile X males with variant methylation of the FMR1 gene reveal that the degree of methylation influences clinical severity
-
Taylor AK, Safanda JF, Lugenbeel KA, Nelson DL, Hagerman RJ (1994): Molecular and phenotypic studies of fragile X males with variant methylation of the FMR1 gene reveal that the degree of methylation influences clinical severity. Am J Hum Genet 55:18.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 18
-
-
Taylor, A.K.1
Safanda, J.F.2
Lugenbeel, K.A.3
Nelson, D.L.4
Hagerman, R.J.5
-
35
-
-
0027236971
-
Characterization and localization of the FMR1 gene product associated with fragile X syndrome
-
Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJMH, Galjaard H, Reuser AJJ, Hoogeveen AT, Oostra BA (1993): Characterization and localization of the FMR1 gene product associated with fragile X syndrome. Nature 363:722-724.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
De Graaff, E.3
Keulemans, J.4
Willemsen, R.5
Verkerk, A.J.M.H.6
Galjaard, H.7
Reuser, A.J.J.8
Hoogeveen, A.T.9
Oostra, B.A.10
-
36
-
-
0025905795
-
Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variations in fragile X syndrome
-
Verkerk AJM, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Bussen BE, Van Ommen GJB, Blunden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey TL, Nelson DL, Oostra BA, Warren ST (1991): Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variations in fragile X syndrome. Cell 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.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
Bussen, B.E.11
Van Ommen, G.J.B.12
Blunden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, T.L.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
37
-
-
0026940943
-
Segregation of the fragile X mutation from an affected male to his normal daughter
-
Willems PJ, Van Roy B, De Boulle K, Vits L, Reyniers E, Beck O, Dumon JE, Verkerk A, Oostra B (1992): Segregation of the fragile X mutation from an affected male to his normal daughter. Hum Mol Genet 1:511-515.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 511-515
-
-
Willems, P.J.1
Van Roy, B.2
De Boulle, K.3
Vits, L.4
Reyniers, E.5
Beck, O.6
Dumon, J.E.7
Verkerk, A.8
Oostra, B.9
-
38
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel JL, Galjaard H, Oostra B (1995): Rapid antibody test for fragile X syndrome. Lancet 345:1147-1148.
-
(1995)
Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
De Vries, B.3
Devys, D.4
Van Den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.8
-
39
-
-
0026719817
-
Fragile X syndrome: Unique genetics of the heritable unstable element
-
Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, Sutherland GR, Richards RI (1992): Fragile X syndrome: Unique genetics of the heritable unstable element. Am J Hum Genet 50:968-980.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 968-980
-
-
Yu, S.1
Mulley, J.2
Loesch, D.3
Turner, G.4
Donnelly, A.5
Gedeon, A.6
Hillen, D.7
Kremer, E.8
Lynch, M.9
Pritchard, M.10
Sutherland, G.R.11
Richards, R.I.12
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