-
1
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a Fragile X breakpoint cluster region which exhibits length variation in fragile-X syndrome
-
Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, O.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P., Bussen, B.E., van Ommen, G.J.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L, Kunst, C.B., Caskey, C.T., Nelson, D.L., Oostra, B.A. and Warren, S.T. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a Fragile X breakpoint cluster region which exhibits length variation in fragile-X syndrome. Cell, 65, 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, O.P.A.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
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Caskey, C.T.17
Nelson, D.L.18
Oostra, B.A.19
Warren, S.T.20
more..
-
2
-
-
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., Boue, J., Bertheas, M.F. and Mandel, J.L. (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
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
3
-
-
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. and Richard, R.I. (1991) Fragile X genotype characterized by an unstable region of DNA. Science, 252, 1179-1181.
-
(1991)
Science
, vol.252
, 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
Richard, R.I.12
-
4
-
-
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. and Mandel, J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a Fragile X premutation. Nature Genet., 4, 335-340.
-
(1993)
Nature Genet.
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
5
-
-
0028979161
-
Quantitative comparison of FMRI gene expression in normal and premutation alleles
-
Feng, Y., Lakkis, L., Devys, D. and Warren, ST. (1995) Quantitative comparison of FMRI 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
-
6
-
-
0025970882
-
Physical mapping across the fragile X: Hypermethylation and clinical expression of the Fragile X syndrome
-
Bell, M.V., Hirst, M.C., Nakahori, Y., MacKinnon, R.N., Roche, A., Flint, T.J., Jacobs, P.A., Tommerup, N., Tranebjaerg, L., Froster-Iskenius, U., Kerr, B., Turner, G., Lindenbaum, R.H., Winter, R., Pembrey, M., Thibodeau, S. and Davies, K.E. (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
Tommerup, N.8
Tranebjaerg, L.9
Froster-Iskenius, U.10
Kerr, B.11
Turner, G.12
Lindenbaum, R.H.13
Winter, R.14
Pembrey, M.15
Thibodeau, S.16
Davies, K.E.17
-
7
-
-
0025833298
-
Absence of expression of the FMR-1 gene in Fragile-X syndrome
-
Pieretti, M., Zhang, P.P., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and 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, P.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
8
-
-
0026008491
-
Relationship between age and IQ among fragile X males: A multicenter study
-
Fisch, G.S., Arinami, T., Froster-Iskenius, U., Fryns, J.-P, Curfs, L.M., Borghgraef, M., Howard-Peebles, P.N., Schwartz, C.E., Simensen, R.J. and Shapiro, L.R. (1991) Relationship between age and IQ among fragile X males: a multicenter study. Am. J. Med. Genet., 38, 481-487.
-
(1991)
Am. J. Med. Genet.
, vol.38
, pp. 481-487
-
-
Fisch, G.S.1
Arinami, T.2
Froster-Iskenius, U.3
Fryns, J.-P.4
Curfs, L.M.5
Borghgraef, M.6
Howard-Peebles, P.N.7
Schwartz, C.E.8
Simensen, R.J.9
Shapiro, L.R.10
-
9
-
-
0026865445
-
Characterisation of a new rare fragile site easily confused with the fragile X
-
Sutherland, G.R. and Baker, E. (1992) Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Mol. Genet., 1, 111-113.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 111-113
-
-
Sutherland, G.R.1
Baker, E.2
-
10
-
-
0027522796
-
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
-
Flynn, G.A., Hirst, M.C., Knight, S.J.L., Macpherson, J.N., Barber, J.C.K., Flannery, A.V., Davies, K.E. and Buckle, V.J. (1993) Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J. Med. Genet., 30, 97-101.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 97-101
-
-
Flynn, G.A.1
Hirst, M.C.2
Knight, S.J.L.3
Macpherson, J.N.4
Barber, J.C.K.5
Flannery, A.V.6
Davies, K.E.7
Buckle, V.J.8
-
11
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middletonprice, H.R., Barnicoat, A., Pembrey, M.E., Holland, J., Oostra, B.A., Bobrow, M. and Davies, K.E. (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middletonprice, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
12
-
-
0028937577
-
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
-
Gedeon, A.K., Keinänen, M., Adès, L.C., Kääriäinen, H., Gécz, J., Baker, E., Sutherland, G.R. and Mulley, J.C. (1995) Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am. J. Hum. Genet., 56, 907-914.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 907-914
-
-
Gedeon, A.K.1
Keinänen, M.2
Adès, L.C.3
Kääriäinen, H.4
Gécz, J.5
Baker, E.6
Sutherland, G.R.7
Mulley, J.C.8
-
13
-
-
0030027566
-
A candidate gene for mild mental handicap at the FRAXE fragile site
-
Chakrabarti, L., Knight, S.J.L., Flannery, A.V. and Davies, K.E. (1996) A candidate gene for mild mental handicap at the FRAXE fragile site. Hum. Mol. Genet., 5, 275-282.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 275-282
-
-
Chakrabarti, L.1
Knight, S.J.L.2
Flannery, A.V.3
Davies, K.E.4
-
14
-
-
0027991895
-
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
-
Knight, S.J.L., Voelckel, M.A., Hirst, M.C., Flannery, A.V., Moncla, A. and Davies, K.E. (1994) Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet., 55, 81-86.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 81-86
-
-
Knight, S.J.L.1
Voelckel, M.A.2
Hirst, M.C.3
Flannery, A.V.4
Moncla, A.5
Davies, K.E.6
-
15
-
-
0026777140
-
Two families with Xq27.3 fragility, no detectable insert in the FMR-I gene, mild mental impairment and absence of the Martin Bell phenotype
-
Dennis, N.R., Curtis, G., Macpherson, J.N. and Jacobs, P.A. (1992) Two families with Xq27.3 fragility, no detectable insert in the FMR-I gene, mild mental impairment and absence of the Martin Bell phenotype. Am. J. Med. Genet., 43, 232-236.
-
(1992)
Am. J. Med. Genet.
, vol.43
, pp. 232-236
-
-
Dennis, N.R.1
Curtis, G.2
Macpherson, J.N.3
Jacobs, P.A.4
-
16
-
-
0027968066
-
Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data
-
Hamel, B.C..J., Smits, A.P.T., Degraaff, E., Smeets, D.F.C.M., Schoute, F., Bussen, B.H.J., Knight, S.J.L., Davies, K.E., Assmanhulsmans, C.F.C.H. and Oostra, B.A. (1994) Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am. J. Hum. Genet., 55, 923-931.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 923-931
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
Degraaff, E.3
Smeets, D.F.C.M.4
Schoute, F.5
Bussen, B.H.J.6
Knight, S.J.L.7
Davies, K.E.8
Assmanhulsmans, C.F.C.H.9
Oostra, B.A.10
-
17
-
-
0028933941
-
FRAXE and mental retardation
-
Mulley, J.C., Yu, S., Loesch, D.Z., Hay, D.A., Donnelly, A., Gedeon, A.K., Carbonell, P., Lopez, I., Glover, G., Gabarron, I., Yu, P.W.L., Baker, E., Haan, E.A., Hockey, A., Knight, S.J.L., Davies, K.E., Richards, R.I. and Sutherland, G.R.(1995) FRAXE and mental retardation. J. Med. Genet., 32, 162-169.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 162-169
-
-
Mulley, J.C.1
Yu, S.2
Loesch, D.Z.3
Hay, D.A.4
Donnelly, A.5
Gedeon, A.K.6
Carbonell, P.7
Lopez, I.8
Glover, G.9
Gabarron, I.10
Yu, P.W.L.11
Baker, E.12
Haan, E.A.13
Hockey, A.14
Knight, S.J.L.15
Davies, K.E.16
Richards, R.I.17
Sutherland, G.R.18
-
18
-
-
0025091643
-
X-chromosome imprinting in Fragile-X syndrome
-
Yu, W.D., Wenger, S.L. and Steele, M.W. (1990) X-chromosome imprinting in Fragile-X syndrome. Hum. Genet., 85, 590-594.
-
(1990)
Hum. Genet.
, vol.85
, pp. 590-594
-
-
Yu, W.D.1
Wenger, S.L.2
Steele, M.W.3
-
19
-
-
0026940943
-
Segregation of the fragile X mutation from an affected male to his normal daughter
-
Willems, P.J., Van Roy, B., De Boulle, K., Vits, L., Reyniers, E., Beck, O., Dumon, J.E., Verkerk, A. and 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
-
20
-
-
0027288903
-
The full mutation in the FMR-1 gene of male fragile-X patients is absent in their sperm
-
Reyniers, E., Vits, L., Deboulle, K., Vanroy, B., Vanvelzen, D., Degraaff, E., Verkerk, A.J.M.H., Jorens, H.Z.J., Darby, J.K., Oostra, B. and Willems, P.J. (1993) The full mutation in the FMR-1 gene of male fragile-X patients is absent in their sperm. Nature Genet., 4, 143-146.
-
(1993)
Nature Genet.
, vol.4
, pp. 143-146
-
-
Reyniers, E.1
Vits, L.2
Deboulle, K.3
Vanroy, B.4
Vanvelzen, D.5
Degraaff, E.6
Verkerk, A.J.M.H.7
Jorens, H.Z.J.8
Darby, J.K.9
Oostra, B.10
Willems, P.J.11
-
21
-
-
0022595514
-
Population incidence and segregation ratios in the Martin-Bell syndrome
-
Webb, T.P., Bundey, S.E., Thank, A.I. and Todd, J. (1986) Population incidence and segregation ratios in the Martin-Bell syndrome. Am. J. Med. Genet., 23, 573-580.
-
(1986)
Am. J. Med. Genet.
, vol.23
, pp. 573-580
-
-
Webb, T.P.1
Bundey, S.E.2
Thank, A.I.3
Todd, J.4
-
22
-
-
0022506218
-
Preventive screening for the Fragile X syndrome
-
Turner, G., Robinson, H., Laing, S. and Purvis-Smith, S. (1986) Preventive screening for the Fragile X syndrome. N. Engl. J. Med., 315, 607-609.
-
(1986)
N. Engl. J. Med.
, vol.315
, pp. 607-609
-
-
Turner, G.1
Robinson, H.2
Laing, S.3
Purvis-Smith, S.4
-
23
-
-
0029029547
-
FRAXE expansion is not a common etiological factor among developmentally delayed males
-
Allingham-Hawkins, D.J. and Ray, P.N. (1995) FRAXE expansion is not a common etiological factor among developmentally delayed males. Am. J. Hum. Genet., 57, 72-77.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 72-77
-
-
Allingham-Hawkins, D.J.1
Ray, P.N.2
-
24
-
-
0025761150
-
Fragile-X syndrome - Diagnosis using highly polymorphic microsatellite markers
-
Richards, R.I., Shen, Y, Holman, K., Kozman, H., Hyland, V.J., Mulley, J.C. and Sutherland, G.R. (1991) Fragile-X syndrome - diagnosis using highly polymorphic microsatellite markers. Am. J. Hum. Genet., 48, 1051-1057
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 1051-1057
-
-
Richards, R.I.1
Shen, Y.2
Holman, K.3
Kozman, H.4
Hyland, V.J.5
Mulley, J.C.6
Sutherland, G.R.7
-
25
-
-
0027416537
-
Linkage disequilibrium between the fragile-X mutation and two closely linked CA repeats suggests that fragile-X chromosomes are derived from a small number of founder chromosomes
-
Oudet, C., Mornet, E., Serre, J.L., Thomas, F., Lenteszengerling, S., Kretz, C., Deluchat, C., Tejada, I., Boué, J., Boue, A. and Mandel, J.L. (1993) Linkage disequilibrium between the fragile-X mutation and two closely linked CA repeats suggests that fragile-X chromosomes are derived from a small number of founder chromosomes. Am. J. Hum. Genet., 52, 297-304.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 297-304
-
-
Oudet, C.1
Mornet, E.2
Serre, J.L.3
Thomas, F.4
Lenteszengerling, S.5
Kretz, C.6
Deluchat, C.7
Tejada, I.8
Boué, J.9
Boue, A.10
Mandel, J.L.11
-
26
-
-
0028219673
-
Insert size and flanking haplotype in fragile X and normal populations - Possible multiple origins for the fragile X mutation
-
Macpherson, J.N., Bullman, H., Youings, S.A. and Jacobs, P.A. (1994) Insert size and flanking haplotype in fragile X and normal populations - possible multiple origins for the fragile X mutation. Hum. Mol. Genet., 3, 399-405.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 399-405
-
-
Macpherson, J.N.1
Bullman, H.2
Youings, S.A.3
Jacobs, P.A.4
-
27
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
Jacobs, P.A., Bullman, H., Macpherson, J., Youings, S., Rooney, V., Watson, A. and Dennis, N.R. (1993) Population studies of the fragile X: a molecular approach. J. Med. Genet., 30, 454-459.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 454-459
-
-
Jacobs, P.A.1
Bullman, H.2
Macpherson, J.3
Youings, S.4
Rooney, V.5
Watson, A.6
Dennis, N.R.7
-
28
-
-
0029924873
-
The prevalence of the fragile X syndrome
-
in press
-
Turner, G., Webb, T., Wake, S. and Robinson, H. (1996) The prevalence of the fragile X syndrome. Am. J. Med. Genet., in press.
-
(1996)
Am. J. Med. Genet.
-
-
Turner, G.1
Webb, T.2
Wake, S.3
Robinson, H.4
-
29
-
-
0028362238
-
Evaluation of school children at high risk for Fragile X syndrome utilizing buccal cell FMR-1 testing
-
Hagerman, R.J., Wilson, P., Staley, L.W., Lang, K.A., Fan, T., Uhlhorn, C., Jewellsmart, S., Hull, C., Drisko, J., Flom, K. and Tuylor, A.K. (1994) Evaluation of school children at high risk for Fragile X syndrome utilizing buccal cell FMR-1 testing. Am. J. Med. Genet., 51, 474-481.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 474-481
-
-
Hagerman, R.J.1
Wilson, P.2
Staley, L.W.3
Lang, K.A.4
Fan, T.5
Uhlhorn, C.6
Jewellsmart, S.7
Hull, C.8
Drisko, J.9
Flom, K.10
Tuylor, A.K.11
-
30
-
-
0028201020
-
DNA diagnosis of the Fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
-
Van den Ouweland, A.M.W., de Vries, B.B.A., Bakker, L.G., Deelen, W.H., de Graaff, E., van Hemel, N.O., Oostra, B.A., Niermeijer, M.F. and Halley, D.J.J. (1994) DNA diagnosis of the Fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am. J. Med. Genet., 51, 482-485.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 482-485
-
-
Van Den Ouweland, A.M.W.1
De Vries, B.B.A.2
Bakker, L.G.3
Deelen, W.H.4
De Graaff, E.5
Van Hemel, N.O.6
Oostra, B.A.7
Niermeijer, M.F.8
Halley, D.J.J.9
-
31
-
-
0026345716
-
Variation of the CGG repeat at the fragile-X site results in genetic instability - Resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J.M.H., Holden, J.J.A., Fenwick, R.G., Warren, S.T., Oostra. B. A., Nelson, D.L. and Caskey, C. T. (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.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
32
-
-
0028197078
-
Frequency and stability of the fragile X premutation
-
Reiss, A.L., Kazazian, H.H., Krebs, C.M., Mcaughan, A., Boehm, C.D., Abrams, M.T. and Nelson, D.L. (1994) Frequency and stability of the fragile X premutation. Hum. Mol. Genet., 3, 393-398.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 393-398
-
-
Reiss, A.L.1
Kazazian, H.H.2
Krebs, C.M.3
Mcaughan, A.4
Boehm, C.D.5
Abrams, M.T.6
Nelson, D.L.7
-
33
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMR1 gene - And implications for the population genetics of the Fragile X syndrome
-
Rousseau, F., Rouillard, P., Morel, M.-L., Khandjian, E.W. and Morgan, K. (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene - and implications for the population genetics of the Fragile X syndrome. Am. J. Hum. Genet., 57, 1006-1018.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.-L.3
Khandjian, E.W.4
Morgan, K.5
-
34
-
-
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., Vanderhagen, C., Delozierblanchet, C., Croquette, M.F. Gilgenkrantz, S., Jalbert, P., Voelckel, M.A., Oberlé, I. and Mandel, J.L. (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
Vanderhagen, C.8
Delozierblanchet, C.9
Croquette, M.F.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelckel, M.A.13
Oberlé, I.14
Mandel, J.L.15
-
35
-
-
0027482074
-
Neurobehavioural effects of the fragile X premutation in adult women: A controlled study
-
Reiss, A.L., Freund, L., Abrams, M.T., Boehm, C. and Kazazian, H. (1993) Neurobehavioural 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
-
36
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the Fragile X syndrome, using direct diagnosis with probe StB 12.3: 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. and Mandel, J.L. (1994) A multicenter study on genotype-phenotype correlations in the Fragile X syndrome, using direct diagnosis with probe StB 12.3: 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
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..
-
37
-
-
0029097960
-
Fragile X premutations in familial premature ovarian failure
-
Conway, G.S., Hettiarachchi, S., Murray, A. and Jacobs, P.A. (1995) Fragile X premutations in familial premature ovarian failure. Lancet, 346, 309-310.
-
(1995)
Lancet
, vol.346
, pp. 309-310
-
-
Conway, G.S.1
Hettiarachchi, S.2
Murray, A.3
Jacobs, P.A.4
-
38
-
-
0027985106
-
Dizygous twinning and premature menopause in Fragile X syndrome
-
Turner, G., Robinson, H., Wake, S. and Martin, N. (1994) Dizygous twinning and premature menopause in Fragile X syndrome. Lancet, 344, 1500-1500.
-
(1994)
Lancet
, vol.344
, pp. 1500-1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
39
-
-
0028237298
-
Comparison between the cy togenetic test for Fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals
-
Hofstee, Y., Arinami, T. and Hamaguchi, H. (1994) Comparison between the cy togenetic test for Fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals. Am. J. Med. Genet., 51, 466-470.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 466-470
-
-
Hofstee, Y.1
Arinami, T.2
Hamaguchi, H.3
-
40
-
-
0029074181
-
n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases
-
n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases. Nucleic Acids Res., 23, 1876-1881.
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 1876-1881
-
-
Mitchell, J.E.1
Newbury, S.F.2
McClellan, J.A.3
-
41
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
-
(1995)
Cell
, vol.81
, pp. 533-540
-
-
Gacy, A.M.1
Goellner, G.2
Juranic, N.3
Macura, S.4
McMurray, C.T.5
-
42
-
-
0028886722
-
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
-
Eichler, E.E., Hammond, H.A., Macpherson, J.N., Ward, P.A. and Nelson, D.L. (1995) Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum. Mol. Genet., 4, 2199-2208.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2199-2208
-
-
Eichler, E.E.1
Hammond, H.A.2
Macpherson, J.N.3
Ward, P.A.4
Nelson, D.L.5
-
43
-
-
0028074287
-
Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
-
Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid. D.J. and Thibodeau, S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet., 3, 1543-1551.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1543-1551
-
-
Snow, K.1
Tester, D.J.2
Kruckeberg, K.E.3
Schaid, D.J.4
Thibodeau, S.N.5
-
44
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler, E.E., Holden, J.J.A., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A. and Nelson, D.L. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet., 8, 88-94.
-
(1994)
Nature Genet.
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.A.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
-
45
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
46
-
-
0028567730
-
The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
-
Ritchie, R.J., Knight, S.J.L., Hirst, M.C., Grewal, P.K., Bobrow, M., Cross, O.S. and Davies, K.E. (1994) The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum. Mol. Genet., 3, 2115-2121.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2115-2121
-
-
Ritchie, R.J.1
Knight, S.J.L.2
Hirst, M.C.3
Grewal, P.K.4
Bobrow, M.5
Cross, O.S.6
Davies, K.E.7
-
48
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215-1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215-1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
|