-
1
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham PM, Scott MO, Wang SP et al 1995 Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat Genet 9:191-196
-
(1995)
Nat Genet
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.P.3
-
2
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
-
Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT 1993 Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258
-
(1993)
Nat Genet
, vol.5
, pp. 254-258
-
-
Chung, M.-Y.1
Ranum, L.P.W.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
3
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler EE, Holden JJA, Popovich BW et al 1994 Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94
-
(1994)
Nat Genet
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.A.2
Popovich, B.W.3
-
4
-
-
0028969636
-
The fragile X premutation in carriers and its effect on mutation size in offspring
-
Fisch GS, Snow K, Thibodeau SN et al 1995 The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet 56:1147-1155
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1147-1155
-
-
Fisch, G.S.1
Snow, K.2
Thibodeau, S.N.3
-
6
-
-
0028133504
-
Precursor arrays for triplet repeat expansion at the fragile X locus
-
Hirst M, Grewal PK, Davies KE 1994 Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet 3:1553-1560
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1553-1560
-
-
Hirst, M.1
Grewal, P.K.2
Davies, K.E.3
-
7
-
-
0028896099
-
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CLB2
-
Jones C, Penny L, Mattina T et al 1995 Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CLB2. Nature 376:145-149
-
(1995)
Nature
, vol.376
, pp. 145-149
-
-
Jones, C.1
Penny, L.2
Mattina, T.3
-
8
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC et al 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
-
9
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst CB, Warren ST 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
-
10
-
-
0023440934
-
Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation
-
Laird CD 1987 Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. Genetics 117:587-599
-
(1987)
Genetics
, vol.117
, pp. 587-599
-
-
Laird, C.D.1
-
11
-
-
0027267807
-
Imprinting and imprint erasure as viewed through the fragile-X syndrome
-
Laird CD 1993 Imprinting and imprint erasure as viewed through the fragile-X syndrome. Am J Med Genet 46:687-688
-
(1993)
Am J Med Genet
, vol.46
, pp. 687-688
-
-
Laird, C.D.1
-
12
-
-
0027981933
-
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis
-
Nancarrow JK, Kremer E, Holman K et al 1994 Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264:1938-1941
-
(1994)
Science
, vol.264
, pp. 1938-1941
-
-
Nancarrow, J.K.1
Kremer, E.2
Holman, K.3
-
14
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I, Rousseau F, Heitz D 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
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
-
15
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish JE, Oostra BA, Verkerk AJMH et al 1994 Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet 8:229-235
-
(1994)
Nat Genet
, vol.8
, pp. 229-235
-
-
Parrish, J.E.1
Oostra, B.A.2
Verkerk, A.J.M.H.3
-
16
-
-
0021921029
-
A premutation that generates a defect at crossing-over explains the inheritance of fragile X mental retardation
-
Pembrey ME, Winter RM, Davies KE 1985 A premutation that generates a defect at crossing-over explains the inheritance of fragile X mental retardation. Am J Med Genet 21:709-717
-
(1985)
Am J Med Genet
, vol.21
, pp. 709-717
-
-
Pembrey, M.E.1
Winter, R.M.2
Davies, K.E.3
-
17
-
-
78651024089
-
The problem of anticipation in pedigrees of dystrophica myotonica
-
Penrose LS 1948 The problem of anticipation in pedigrees of dystrophica myotonica. Ann Eugenics 14:125-132
-
(1948)
Ann Eugenics
, vol.14
, pp. 125-132
-
-
Penrose, L.S.1
-
18
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang F, Fu Y-H et al 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.2
Fu, Y.-H.3
-
19
-
-
0027288903
-
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm
-
Reyniers E, Vits L, De Boulle K et al 1993 The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 4:143-146
-
(1993)
Nat Genet
, vol.4
, pp. 143-146
-
-
Reyniers, E.1
Vits, L.2
De Boulle, K.3
-
20
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
Richards RI, Sutherland GR 1992 Dynamic mutations: a new class of mutations causing human disease. Cell 70:709-712
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
21
-
-
0026893655
-
Evidence of founder chromosomes in fragile X syndrome
-
Richards RI, Holman K, Friend K et al 1992 Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260
-
(1992)
Nat Genet
, vol.1
, pp. 257-260
-
-
Richards, R.I.1
Holman, K.2
Friend, K.3
-
22
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V et al 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
-
23
-
-
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 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
-
24
-
-
0022657544
-
Segregation analysis of rare autosomal fragile sites
-
Sherman SL, Sutherland GR 1986 Segregation analysis of rare autosomal fragile sites. Hum Genet 72:123-128
-
(1986)
Hum Genet
, vol.72
, pp. 123-128
-
-
Sherman, S.L.1
Sutherland, G.R.2
-
26
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
erratum: 1985 Hum Genet 71:184-186
-
Sherman SL, Jacobs PA, Morton NE et al 1985 Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289-299 (erratum: 1985 Hum Genet 71:184-186)
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.A.2
Morton, N.E.3
-
27
-
-
0028074287
-
Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
-
Snow K, Tester DJ, Kruckenberg KE, Schaid DJ, Thibodeau SN 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
Kruckenberg, K.E.3
Schaid, D.J.4
Thibodeau, S.N.5
-
29
-
-
0025912402
-
Hereditary unstable DNA: A new explanation for some old genetic questions
-
Sutherland GR, Haan EA, Kremer E et al 1991 Hereditary unstable DNA: a new explanation for some old genetic questions. Lancet 358:289-292
-
(1991)
Lancet
, vol.358
, pp. 289-292
-
-
Sutherland, G.R.1
Haan, E.A.2
Kremer, E.3
-
30
-
-
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 AJMH, Pieretti M, Sutcliffe JS et al 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 65:905-914
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
-
31
-
-
0027310525
-
Mitotic stability of fragile-X mutations in differentiated cells indicates early postconceptional trinucleotide repeat expansion
-
Wöhrle D, Hennig I, Vogel W, Steinbach P 1993 Mitotic stability of fragile-X mutations in differentiated cells indicates early postconceptional trinucleotide repeat expansion. Nat Genet 4:140-142
-
(1993)
Nat Genet
, vol.4
, pp. 140-142
-
-
Wöhrle, D.1
Hennig, I.2
Vogel, W.3
Steinbach, P.4
-
32
-
-
0026347628
-
Fragile X genotype characterised by an unstable region of DNA
-
Yu S, Pritchard M, Kremer E et al 1991 Fragile X genotype characterised 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
-
33
-
-
0026719817
-
Fragile X syndrome: Unique genetics of the heritable unstable element
-
Yu S, Mulley JC, Loesch D et al 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.C.2
Loesch, D.3
|