-
1
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
-
Allingham-Hawkins DJ, Bahul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C, Hudson R, et al (1999) Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study - preliminary data. Am J Med Genet 83:322-325
-
(1999)
Am J Med Genet
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Bahul-Hirji, R.2
Chitayat, D.3
Holden, J.J.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
-
2
-
-
0027422230
-
Transcriptional and posrtranscriptional regulation of hepatic beta 2-adrenergic receptor gene expression during development
-
Baeyens DA, Cornett LE (1993) Transcriptional and posrtranscriptional regulation of hepatic beta 2-adrenergic receptor gene expression during development. J Cell Physiol 157:70-76
-
(1993)
J Cell Physiol
, vol.157
, pp. 70-76
-
-
Baeyens, D.A.1
Cornett, L.E.2
-
3
-
-
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, et al (1993) Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck G.E., Jr.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
-
4
-
-
16944366733
-
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
-
de Vries BBA, Jansen CCAM, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AMW, et al (1996) Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet 33:1007-1010
-
(1996)
J Med Genet
, vol.33
, pp. 1007-1010
-
-
Vries, B.B.A.1
Jansen, C.C.A.M.2
Duits, A.A.3
Verheij, C.4
Willemsen, R.5
Van Hemel, J.O.6
Van Den Ouweland, A.M.W.7
-
5
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys D, Lutz Y, Rouyer N, Bellocq J-P, Mandel J-L (1993) The FMR-1 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
-
7
-
-
0028979161
-
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
-
Feng Y, Lakkis L, Devys D, Warren ST (1995a) Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 56:106-113
-
(1995)
Am J Hum Genet
, vol.56
, pp. 106-113
-
-
Feng, Y.1
Lakkis, L.2
Devys, D.3
Warren, S.T.4
-
8
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST (1995b) 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
-
9
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
-
Franke P, Leboyer M, Gansicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, et al (1998) Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 80:113-127
-
(1998)
Psychiatry Res
, vol.80
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
Weiffenbach, O.4
Biancalana, V.5
Cornillet-Lefebre, P.6
Croquette, M.F.7
-
10
-
-
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, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 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
-
11
-
-
0029964835
-
A novel method for real time quantitative RT-PCR
-
Gibson UE, Heid CA, Williams PM (1996) A novel method for real time quantitative RT-PCR. Genome Res 6:995-1001
-
(1996)
Genome Res
, vol.6
, pp. 995-1001
-
-
Gibson, U.E.1
Heid, C.A.2
Williams, P.M.3
-
12
-
-
0028122686
-
A de novo deletion in FMR1 in a patient with developmental delay
-
Gu Yanghong, Lugenbeel KA, Vockley JG, Grody WW, Nelson DL (1994) A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet 3:1705-1706
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1705-1706
-
-
Yanghong, G.1
Lugenbeel, K.A.2
Vockley, J.G.3
Grody, W.W.4
Nelson, D.L.5
-
13
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Cronister AC (eds) Johns Hopkins University Press, Baltimore
-
Hagerman RJ (1996) Physical and behavioral phenotype. In: Hagerman RJ, Cronister AC (eds) Fragile X syndrome: diagnosis, treatment, and research, 2d ed. Johns Hopkins University Press, Baltimore, pp 3-87
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment, and Research, 2d Ed.
, pp. 3-87
-
-
Hagerman, R.J.1
-
14
-
-
0002133981
-
Fragile X syndrome
-
Oxford University Press, Oxford
-
-(1999) Fragile X syndrome. In: Neurodevelopmental disorders: diagnosis and treatment. Oxford University Press, Oxford, pp 61-132
-
(1999)
Neurodevelopmental Disorders: Diagnosis and Treatment
, pp. 61-132
-
-
-
15
-
-
0030054149
-
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
-
Hagerman RJ, Staley LW, O'Conner R, Lugenbeel K, Nelson D, McLean SD, Taylor AK (1996) Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics 97:122-126
-
(1996)
Pediatrics
, vol.97
, pp. 122-126
-
-
Hagerman, R.J.1
Staley, L.W.2
O'Conner, R.3
Lugenbeel, K.4
Nelson, D.5
McLean, S.D.6
Taylor, A.K.7
-
17
-
-
0032005854
-
Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains
-
Hmadcha A, De Diego Y, Pintado E (1998) Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains. J Lab Clin Med 131:170-173
-
(1998)
J Lab Clin Med
, vol.131
, pp. 170-173
-
-
Hmadcha, A.1
De Diego, Y.2
Pintado, E.3
-
18
-
-
0033515679
-
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
-
Kaufmann WE, Abrams MT, Chen W, Reiss AL (1999) Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Am J Med Genet 83:286-295
-
(1999)
Am J Med Genet
, vol.83
, pp. 286-295
-
-
Kaufmann, W.E.1
Abrams, M.T.2
Chen, W.3
Reiss, A.L.4
-
19
-
-
0028834086
-
Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
-
Livak KJ, Flood SJ, Marmaro J, Giusti W, Deetz K (1995) Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Appl 4: 357-362
-
(1995)
PCR Methods Appl
, vol.4
, pp. 357-362
-
-
Livak, K.J.1
Flood, S.J.2
Marmaro, J.3
Giusti, W.4
Deetz, K.5
-
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
-
-
0023187798
-
Phenotypic variation in male-transmitted fragile X: Genetic inferences
-
Loesch DZ, Hay DA, Sutherland GR, Halliday J, Judge C, Webb GC (1987) Phenotypic variation in male-transmitted fragile X: genetic inferences. Am J Med Genet 27:401-417
-
(1987)
Am J Med Genet
, vol.27
, pp. 401-417
-
-
Loesch, D.Z.1
Hay, D.A.2
Sutherland, G.R.3
Halliday, J.4
Judge, C.5
Webb, G.C.6
-
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
-
-
0031857007
-
Studies of FRAXA and FRAXE in women with premature ovarian failure
-
Murray A, Webb J, Grimley S, Conway G, Jacobs P (1998) Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 35:637-640
-
(1998)
J Med Genet
, vol.35
, pp. 637-640
-
-
Murray, A.1
Webb, J.2
Grimley, S.3
Conway, G.4
Jacobs, P.5
-
24
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlè I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Bouè J, et al (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
-
-
Oberlè, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Bouè, J.7
-
25
-
-
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 (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 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
-
26
-
-
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
-
27
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
Riddle JE, Cheema A, Sobesky WE, Gardner SC, Taylor AK, Pennington BF, Hagerman RJ (1998) Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 102:590-601
-
(1998)
Am J Ment Retard
, vol.102
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
Gardner, S.C.4
Taylor, A.K.5
Pennington, B.F.6
Hagerman, R.J.7
-
28
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe stb12.3: The first 2,253 cases
-
Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, et al (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
-
(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
-
29
-
-
0027163546
-
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
-
Sabourin LA, Mahadevan MS, Narang M, Lee DSC, Surh LC, Korneluk RG (1993) Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nat Genet 4: 233-238
-
(1993)
Nat Genet
, vol.4
, pp. 233-238
-
-
Sabourin, L.A.1
Mahadevan, M.S.2
Narang, M.3
Lee, D.S.C.4
Surh, L.C.5
Korneluk, R.G.6
-
30
-
-
0028857169
-
Normal phenotype in two brothers with a full FMR1 mutation
-
Smeets HJM, Smits APT, Verheij CE, Theelen JPG, Willemsen R, van de Burgt I, Hoogeveen AT, et al (1995) Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet 4:2103-2108
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2103-2108
-
-
Smeets, H.J.M.1
Smits, A.P.T.2
Verheij, C.E.3
Theelen, J.P.G.4
Willemsen, R.5
Van De Burgt, I.6
Hoogeveen, A.T.7
-
31
-
-
0028283366
-
Prediction of mental status in carriers of the fragile X mutation using CGG repeat length
-
Smits A, Smeets D, Hamel B, Dreesen J, de Haan A, van Oost B (1994) Prediction of mental status in carriers of the fragile X mutation using CGG repeat length. Am J Med Genet 51: 497-500
-
(1994)
Am J Med Genet
, vol.51
, pp. 497-500
-
-
Smits, A.1
Smeets, D.2
Hamel, B.3
Dreesen, J.4
De Haan, A.5
Van Oost, B.6
-
32
-
-
0029896680
-
Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene
-
Steyaert J, Borghgraef M, Legius E, Fryns J-P (1996) Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene. Am J Med Genet 64:274-277
-
(1996)
Am J Med Genet
, vol.64
, pp. 274-277
-
-
Steyaert, J.1
Borghgraef, M.2
Legius, E.3
Fryns, J.-P.4
-
33
-
-
0033612144
-
FMRP expression as a potential prognostic indicator in fragile X syndrome
-
Tassone F, Hagerman RJ, Ilke DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, et al (1999) FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84:250-261
-
(1999)
Am J Med Genet
, vol.84
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Ilke, D.N.3
Dyer, P.N.4
Lampe, M.5
Willemsen, R.6
Oostra, B.A.7
-
34
-
-
85031591954
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
in press
-
Tassone F, Hagerman RJ, Taylor AK, Mills JB, Wood S, Gane LW, Hagerman PJ. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet (in press)
-
Am J Med Genet
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Mills, J.B.4
Wood, S.5
Gane, L.W.6
Hagerman, P.J.7
-
35
-
-
84942951309
-
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
-
Taylor AK, Safanda JF, Fall MZ, Quince C, Lang KA, Hull CE, Carpenter I, et al (1994) Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 271:507-514
-
(1994)
JAMA
, vol.271
, pp. 507-514
-
-
Taylor, A.K.1
Safanda, J.F.2
Fall, M.Z.3
Quince, C.4
Lang, K.A.5
Hull, C.E.6
Carpenter, I.7
-
36
-
-
0027985106
-
Dizygous twinning and premature menopause in fragile X syndrome
-
Turner G, Robinson H, Wake S, Martin N (1994) Dizygous twinning and premature menopause in fragile X syndrome. Lancet 344:1500
-
(1994)
Lancet
, vol.344
, pp. 1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
37
-
-
0027236971
-
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
-
Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, et al (1993) Characterization and localization of the FMR-1 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.6
Galjaard, H.7
-
39
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsing S, de Vries BBA, Devys D, van den Ouweland A, Mandel J-L, Galjaard H, et al (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.B.A.3
Devys, D.4
Van Den Ouweland, A.5
Mandel, J.-L.6
Galjaard, H.7
-
40
-
-
17544386437
-
Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique
-
Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, et al (1997) Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet 99:308-311
-
(1997)
Hum Genet
, vol.99
, pp. 308-311
-
-
Willemsen, R.1
Smits, A.2
Mohkamsing, S.3
Van Beerendonk, H.4
De Haan, A.5
De Vries, B.6
Van Den Ouweland, A.7
|