-
1
-
-
0028234805
-
Molecular-neurobehavioral associations in females with the fragile X full mutation
-
Abrams, M. T., Reiss, A. L., Freund, L. S., Baumgardner, T. L., Chase, G. A., & Denckla, M. B. (1994). Molecular-neurobehavioral associations in females with the fragile X full mutation. American Journal of Medical Genetics, 51, 317-327.
-
(1994)
American Journal of Medical Genetics
, vol.51
, pp. 317-327
-
-
Abrams, M.T.1
Reiss, A.L.2
Freund, L.S.3
Baumgardner, T.L.4
Chase, G.A.5
Denckla, M.B.6
-
2
-
-
0342741683
-
Paternal transmission of a full mutation in the FMR1 gene. Identification of paternal CGG repeat sizes in multiple tissues
-
Brown, C. A., Brasington, C. K., & Grass, F. S. (1995). Paternal transmission of a full mutation in the FMR1 gene. Identification of paternal CGG repeat sizes in multiple tissues. American Journal of Human Genetics, 57(Suppl.)
-
(1995)
American Journal of Human Genetics
, vol.57
, Issue.SUPPL.
-
-
Brown, C.A.1
Brasington, C.K.2
Grass, F.S.3
-
3
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister, A., Schreiner, R., Wittenberger, M., Amiri, K., Harris, K., & Hagerman, R. J. (1991). Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genetics, 38(2-3), 269-274.
-
(1991)
American Journal of Medical Genetics
, vol.38
, Issue.2-3
, pp. 269-274
-
-
Cronister, A.1
Schreiner, R.2
Wittenberger, M.3
Amiri, K.4
Harris, K.5
Hagerman, R.J.6
-
4
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
de Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., Curfs, L. M., Halley, D. J., Oostra, B. A., van den Ouweland, A. M., & Niermeijer, M. F. (1996). Mental status of females with an FMR1 gene full mutation. American Journal of Medical Genetics, 58, 1025-1032.
-
(1996)
American Journal of Medical Genetics
, vol.58
, pp. 1025-1032
-
-
De Vries, B.B.1
Wiegers, A.M.2
Smits, A.P.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.P.6
Curfs, L.M.7
Halley, D.J.8
Oostra, B.A.9
Van Den Ouweland, A.M.10
Niermeijer, M.F.11
-
5
-
-
0028979161
-
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
-
Feng, Y., Lakkis, L., Devys, D., & Warren, S. T. (1995). Quantitative comparison of FMR1 gene expression in normal and premutation alleles. American Journal of Human Genetics, 56, 106-113.
-
(1995)
American Journal of Human Genetics
, vol.56
, pp. 106-113
-
-
Feng, Y.1
Lakkis, L.2
Devys, D.3
Warren, S.T.4
-
6
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng, Y., Zhang, F., Lokey, L. K., Chastain, J. L., Lakkis, L., Eberhart, D., & Warren, S. T. (1995). Translational suppression by trinucleotide repeat expansion at FMR1. Science, 258(5211), 731-734.
-
(1995)
Science
, vol.258
, Issue.5211
, 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
-
7
-
-
0029899583
-
Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
-
Franke, P., Maier, W., Hautzinger, M., Weiffenbach, O., Gansicke, M., Iwers, B., Poustka, F., Schwab, S. G., & Froster, U. (1996). Fragile-X carrier females: Evidence for a distinct psychopathological phenotype? American Journal of Medical Genetics, 64(2), 334-339.
-
(1996)
American Journal of Medical Genetics
, vol.64
, Issue.2
, pp. 334-339
-
-
Franke, P.1
Maier, W.2
Hautzinger, M.3
Weiffenbach, O.4
Gansicke, M.5
Iwers, B.6
Poustka, F.7
Schwab, S.G.8
Froster, U.9
-
8
-
-
0027511297
-
Psychiatric disorders associated with fragile X in the young female
-
Freund, L. S., Reiss, A. L., & Abrams, M. T. (1993). Psychiatric disorders associated with fragile X in the young female. Pediatrics, 91(2), 321-339.
-
(1993)
Pediatrics
, vol.91
, Issue.2
, pp. 321-339
-
-
Freund, L.S.1
Reiss, A.L.2
Abrams, M.T.3
-
9
-
-
0001966753
-
Physical and behavioral phenotype
-
R. J. Hagerman & A. Cronister (Eds.), Baltimore: Johns Hopkins University Press
-
Hagerman, R. J. (1996). Physical and behavioral phenotype. In R. J. Hagerman & A. Cronister (Eds.), Fragile X syndrome: Diagnosis, treatment and research (2nd ed., pp. 3-87). Baltimore: Johns Hopkins University Press.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment and Research 2nd Ed.
, pp. 3-87
-
-
Hagerman, R.J.1
-
10
-
-
0026500880
-
Girls with fragile X syndrome: Physical and neurocognitive status and outcome
-
Hagerman, R. J., Jackson, C., Amiri, K., Silverman, A. C., O'Connor, R., & Sobesky, W. (1992). Girls with fragile X syndrome: Physical and neurocognitive status and outcome. Pediatrics, 89(3), 395-400.
-
(1992)
Pediatrics
, vol.89
, Issue.3
, pp. 395-400
-
-
Hagerman, R.J.1
Jackson, C.2
Amiri, K.3
Silverman, A.C.4
O'Connor, R.5
Sobesky, W.6
-
11
-
-
0030054149
-
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
-
Hagerman, R. J., Staley, L. W., O'Connor, R., Lugenbeel, K., Nelson, D., McLean, S. D., & Taylor, A. (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'Connor, R.3
Lugenbeel, K.4
Nelson, D.5
McLean, S.D.6
Taylor, A.7
-
13
-
-
0027383339
-
A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome
-
Hull, C., & Hagerman, R. J. (1993). A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. American Journal of Diseases of Children, 147, 1236-1241.
-
(1993)
American Journal of Diseases of Children
, vol.147
, pp. 1236-1241
-
-
Hull, C.1
Hagerman, R.J.2
-
14
-
-
0028308593
-
Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' Parent's Questionnaire
-
Lachiewicz, A. M., & Dawson, D. V. (1994). Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' Parent's Questionnaire. American Journal of Medical Genetics, 514, 364-369.
-
(1994)
American Journal of Medical Genetics
, vol.514
, pp. 364-369
-
-
Lachiewicz, A.M.1
Dawson, D.V.2
-
15
-
-
0027246074
-
Effect of fragile X on physical and intellectual traits estimated by pedigree analysis
-
Loesch, D. Z., Huggins, R. M., & Chin, W. F. (1993). Effect of fragile X on physical and intellectual traits estimated by pedigree analysis. American Journal of Medical Genetics, 46, 415-422.
-
(1993)
American Journal of Medical Genetics
, vol.46
, pp. 415-422
-
-
Loesch, D.Z.1
Huggins, R.M.2
Chin, W.F.3
-
16
-
-
0029906262
-
A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
-
Maddalena, A., Yadvish, K. N., Spence, W. C., & Howard Peebles, P. N. (1996). A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood. American Journal of Medical Genetics, 64, 309-312.
-
(1996)
American Journal of Medical Genetics
, vol.64
, pp. 309-312
-
-
Maddalena, A.1
Yadvish, K.N.2
Spence, W.C.3
Howard Peebles, P.N.4
-
17
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
-
Mazzocco, M. M., Pennington, B. F., & Hagerman, R. J. (1993). The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity. Journal of Developmental and Behavioral Pediatrics, 14, 328-335.1.
-
(1993)
Journal of Developmental and Behavioral Pediatrics
, vol.14
-
-
Mazzocco, M.M.1
Pennington, B.F.2
Hagerman, R.J.3
-
18
-
-
0042571767
-
FMR1 protein studies and animal model for fragile X syndrome
-
R. J. Hagerman & A. Cronister (Eds.), Baltimore: Johns Hopkins University Press
-
Oostra, B. A. (1996). FMR1 protein studies and animal model for fragile X syndrome. In R. J. Hagerman & A. Cronister (Eds.), Fragile X syndrome: Diagnosis, treatment, and research (2nd ed., pp. 193-209). Baltimore: Johns Hopkins University Press.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment, and Research 2nd Ed.
, pp. 193-209
-
-
Oostra, B.A.1
-
19
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
Pearson, C. E., & Sinden, R. R. (1996). Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry, 35, 5041-5053.
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
20
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (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
-
21
-
-
0028898302
-
Neurodevelopmental effects of the FMR-1 full mutation in humans
-
Reiss, A. L., Abrams, M. T., Greenlaw, R., Freund, L., & Denckla, M. B. (1995). Neurodevelopmental effects of the FMR-1 full mutation in humans. Nature Medicine, 1, 159-167.
-
(1995)
Nature Medicine
, vol.1
, pp. 159-167
-
-
Reiss, A.L.1
Abrams, M.T.2
Greenlaw, R.3
Freund, L.4
Denckla, M.B.5
-
22
-
-
0027482074
-
Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
-
Reiss, A. L., Freund, L., Abrams, M. T., Boehm, C., & Kazazian, H. (1993). Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. American Journal of Human Genetics, 52, 884-894.
-
(1993)
American Journal of Human Genetics
, vol.52
, pp. 884-894
-
-
Reiss, A.L.1
Freund, L.2
Abrams, M.T.3
Boehm, C.4
Kazazian, H.5
-
23
-
-
0026354010
-
Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
-
Rousseau, F., Heitz, D., Oberle, I., & Mandel, J. L. (1991). Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation. Journal of Medical Genetics, 28, 830-836.
-
(1991)
Journal of Medical Genetics
, vol.28
, pp. 830-836
-
-
Rousseau, F.1
Heitz, D.2
Oberle, I.3
Mandel, J.L.4
-
24
-
-
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., Mathew, C., Mornet, E., Tejada, I., Maddalena, A., Spiegel, R., Schinzel, A., Marcos, J. A. G., Schorderet, D. F., Schaap, T., Maccioni, L., Russo, S., Jacobs, P. A, Schwartz, C., & Mandel, J. L. (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. American Journal of Human Genetics, 55, 225-237.
-
(1994)
American Journal of Human Genetics
, 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.G.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..
-
25
-
-
0028237295
-
Obstetrical and gynecological complications in fragile X carriers: A multicenter study
-
Schwartz, C. E., Dean, J., Howard Peebles, P. N., Bugge, M., Mikkelsen, M., Tommerup, N., Hull, C., Hagerman, R., Holden, J. J., & Stevenson, R. E. (1994). Obstetrical and gynecological complications in fragile X carriers: A multicenter study. American Journal of Medical Genetics, 51, 400-402.
-
(1994)
American Journal of Medical Genetics
, vol.51
, pp. 400-402
-
-
Schwartz, C.E.1
Dean, J.2
Howard Peebles, P.N.3
Bugge, M.4
Mikkelsen, M.5
Tommerup, N.6
Hull, C.7
Hagerman, R.8
Holden, J.J.9
Stevenson, R.E.10
-
26
-
-
0002281483
-
The treatment of emotional and behavioral problems
-
R. J. Hagerman & A. Cronister (Eds.), Baltimore: Johns Hopkins University Press
-
Sobesky, W. E. (1996). The treatment of emotional and behavioral problems. In R. J. Hagerman & A. Cronister (Eds.), Fragile X syndrome: Diagnosis, treatment, and research (2nd ed., pp. 332-348). Baltimore: Johns Hopkins University Press.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment, and Research 2nd Ed.
, pp. 332-348
-
-
Sobesky, W.E.1
-
27
-
-
0028082452
-
Symptoms of schizotypal personality disorder in fragile X women
-
Sobesky, W. E., Hull, C. E., & Hagerman, R. J. (1994). Symptoms of schizotypal personality disorder in fragile X women. Journal of the American Academy of Child and Adolescent Psychiatry, 33, 247-255.
-
(1994)
Journal of the American Academy of Child and Adolescent Psychiatry
, vol.33
, pp. 247-255
-
-
Sobesky, W.E.1
Hull, C.E.2
Hagerman, R.J.3
-
28
-
-
0028308594
-
Emotional and neurocognitive deficits in fragile X
-
Sobesky, W. E., Pennington, B. F., Porter, D., Hull, C. E., & Hagerman, R. J. (1994). Emotional and neurocognitive deficits in fragile X. American Journal of Medical Genetics, 51, 378-385.
-
(1994)
American Journal of Medical Genetics
, vol.51
, pp. 378-385
-
-
Sobesky, W.E.1
Pennington, B.F.2
Porter, D.3
Hull, C.E.4
Hagerman, R.J.5
-
29
-
-
0029896683
-
Molecular/clinical correlations in females with fragile X
-
Sobesky, W. E., Taylor, A. K., Pennington, B. F., Bennetto, L., Porter, D., Riddle, J., & Hagerman, R. J. (1996). Molecular/clinical correlations in females with fragile X. American Journal of Medical Genetics, 64, 340-355.
-
(1996)
American Journal of Medical Genetics
, vol.64
, pp. 340-355
-
-
Sobesky, W.E.1
Taylor, A.K.2
Pennington, B.F.3
Bennetto, L.4
Porter, D.5
Riddle, J.6
Hagerman, R.J.7
-
30
-
-
0345694858
-
Developmental problems in premutation carriers: Is this fragile X or not?
-
August 2-5. Paper presented Tromso, Norway
-
Spiridigliozzi, G. A., Lachiewicz, A. M., McConkie-Rosell, A., & Tarleton, J. (1995, August 2-5). Developmental problems in premutation carriers: Is this fragile X or not? Paper presented at the 7th International Workshop on the Fragile X and X Linked Mental Retardation, Tromso, Norway.
-
(1995)
7th International Workshop on the Fragile X and X Linked Mental Retardation
-
-
Spiridigliozzi, G.A.1
Lachiewicz, A.M.2
McConkie-Rosell, A.3
Tarleton, J.4
-
31
-
-
84942951309
-
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
-
Taylor, A. K., Safanda, J. F., Fall, M. Z., Quince, C., Lang, K. A., Hull, C. E., Carpenter, I., Staley, L. W., & Hagerman, R. J. (1994). Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. Journal of the American Medical Association, 271, 507-514.
-
(1994)
Journal of the American Medical Association
, 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
Staley, L.W.8
Hagerman, R.J.9
-
32
-
-
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 [letter) [see comments]. Lancet, 344(8935), 1500.
-
(1994)
Lancet
, vol.344
, Issue.8935
, pp. 1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
33
-
-
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, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F. P., Eussen, B. E., van Ommen, G-J.B., Blonden, A. J., Riggins, G. J., Chastain, J. L., Kunst, C. B., Galjaard, H., Caskey, C. T., Nelson, D. L., Oostra, B. A., & Warren, S. T. (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(5), 905-914.
-
(1991)
Cell
, vol.65
, Issue.5
, 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.-J.B.12
Blonden, 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..
-
35
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen, R., Mohkamsing, S., de Vries, B., Devys, D., van den Ouweland, A., Mandel, J. L., Galjaard, H., & Oostra, B. (1995). Rapid antibody test for fragile X syndrome. Lancet, 343(8958), 1147-1148.
-
(1995)
Lancet
, vol.343
, Issue.8958
, 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
-
36
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., Sutherland, G. R., & Richards, R. I.. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(81), 1179-81.
-
(1991)
Science
, vol.252
, Issue.81
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
Holman, K.7
Mulley, J.C.8
Warren, S.T.9
Schlessinger, D.10
Sutherland, G.R.11
Richards, R.I.12
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