-
2
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Cronister A (ed). Johns Hopkins University Press: Baltimore/London
-
Hagerman RJ: Physical and behavioral phenotype. In: Hagerman RJ, Cronister A (ed). Fragile X Syndrome: Diagnosis, Treatment and Research. Johns Hopkins University Press: Baltimore/London, 1996.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment and Research
-
-
Hagerman, R.J.1
-
3
-
-
0025800165
-
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CGG)n
-
Kremer EJ, Pritchard M, Lynch M et al: Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CGG)n. Science 1991; 252: 1711-1174.
-
(1991)
Science
, vol.252
, pp. 1711-11174
-
-
Kremer, E.J.1
Pritchard, M.2
Lynch, M.3
-
4
-
-
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: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
-
5
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu S, Pritchard M, Kremer E et al: Fragile X genotype characterized by an unstable region of DNA. Science 1991; 252: 1179-1181.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
-
6
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DPA, Pizzuti M et al: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.A.2
Pizzuti, M.3
-
7
-
-
0028074287
-
Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
-
Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN: Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet 1994; 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
-
8
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994 77: 853-861.
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
9
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile-X syndrome
-
Pieretti M, Zhang F, Fu Y-H et al: Absence of expression of the FMR-1 gene in fragile-X syndrome. Cell 1991 66: 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
-
10
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, Nelson DL, Zhang F et al: DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992; 1: 397-400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
-
11
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biahcalana V et al: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991; 325: 1673-1681.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biahcalana, V.3
-
12
-
-
0026893655
-
Evidence of founder chromosomes in fragile X syndrome
-
Richards RI, Holman K, Friend K et al: Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1992 1: 257-260.
-
(1992)
Nat Genet
, vol.1
, pp. 257-260
-
-
Richards, R.I.1
Holman, K.2
Friend, K.3
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 16: 1215.
-
(1988)
Nucl Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
15
-
-
0027376362
-
A complex mutable polymorphism located within the fragile X gene
-
Zhong N, Dobkin C, Brown WT: A complex mutable polymorphism located within the fragile X gene. Nat Genet 1993; 5: 248-253.
-
(1993)
Nat Genet
, vol.5
, pp. 248-253
-
-
Zhong, N.1
Dobkin, C.2
Brown, W.T.3
-
16
-
-
0018147653
-
Estimation of average heterozygosity and genetic distance from a small number of individuals
-
Nei M: Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 1978; 89: 583-590.
-
(1978)
Genetics
, vol.89
, pp. 583-590
-
-
Nei, M.1
-
18
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
Sherman SL, Jacobs PA, Morton NE et al: Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985; 69: 289-299.
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.A.2
Morton, N.E.3
-
19
-
-
0026647257
-
High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate
-
Smits A, Smeets D, Hamel B, Dreesen J, Oost B van: High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate. Am J Med Genet 1992; 43: 345-352.
-
(1992)
Am J Med Genet
, vol.43
, pp. 345-352
-
-
Smits, A.1
Smeets, D.2
Hamel, B.3
Dreesen, J.4
Van Oost, B.5
-
20
-
-
0027411739
-
The fragile X syndrome: No evidence for any recent mutations
-
Smits APT, Dreesen JCFM, Post JG: The fragile X syndrome: no evidence for any recent mutations. J Med Genet 1993; 30: 94-96.
-
(1993)
J Med Genet
, vol.30
, pp. 94-96
-
-
Smits, A.P.T.1
Dreesen, J.C.F.M.2
Post, J.G.3
-
21
-
-
0027279817
-
Origins of the fragile X syndrome mutation
-
Hirst MC, Knight SJL, Christodoulou Z, Grewal PK, Fryns JP, Davies KE: Origins of the fragile X syndrome mutation. J Med Genet 1993; 30: 647-650.
-
(1993)
J Med Genet
, vol.30
, pp. 647-650
-
-
Hirst, M.C.1
Knight, S.J.L.2
Christodoulou, Z.3
Grewal, P.K.4
Fryns, J.P.5
Davies, K.E.6
-
22
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
Jacobs PA, Bullman H, Macpherson J et al: Population studies of the fragile X: a molecular approach. J Med Genet 1993; 30: 454-459.
-
(1993)
J Med Genet
, vol.30
, pp. 454-459
-
-
Jacobs, P.A.1
Bullman, H.2
Macpherson, J.3
-
23
-
-
0027366312
-
Founder effect in a Belgian-Dutch fragile X population
-
Buyle S, Reyniers E, Vits L et al: Founder effect in a Belgian-Dutch fragile X population. Hum Genet 1993; 92: 269-272.
-
(1993)
Hum Genet
, vol.92
, pp. 269-272
-
-
Buyle, S.1
Reyniers, E.2
Vits, L.3
-
24
-
-
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 JL et al: 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 1993; 52: 297-304.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 297-304
-
-
Oudet, C.1
Mornet, E.2
Serre, J.L.3
-
25
-
-
0027947475
-
The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes
-
Haataja R, Väisänen ML, Li M, Ryynänen M, Leisti J:The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 1994; 94: 479-483.
-
(1994)
Hum Genet
, vol.94
, pp. 479-483
-
-
Haataja, R.1
Väisänen, M.L.2
Li, M.3
Ryynänen, M.4
Leisti, J.5
-
26
-
-
0028240436
-
Strong founder effect for the fragile X syndrome in Sweden
-
Malmgren H, Gustavson K, Oudet C, Holmgren G, Petterson U, Dahl N: Strong founder effect for the fragile X syndrome in Sweden. Eur J Hum Genet 1994; 2: 103-109.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 103-109
-
-
Malmgren, H.1
Gustavson, K.2
Oudet, C.3
Holmgren, G.4
Petterson, U.5
Dahl, N.6
-
27
-
-
0028219673
-
Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation
-
Macpherson JN, Bullman H, Youings SA, Jacobs PA: Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. Hum Mol Genet 1994; 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
-
28
-
-
0028283364
-
Fragile X founder chromosome effects: Linkage disequilibrium or micro-satellite heterogeneity?
-
Zhong N, Ye L, Dobkin C, Brown WT: Fragile X founder chromosome effects: linkage disequilibrium or micro-satellite heterogeneity? Am J Med Genet 1994; 51: 405-411.
-
(1994)
Am J Med Genet
, vol.51
, pp. 405-411
-
-
Zhong, N.1
Ye, L.2
Dobkin, C.3
Brown, W.T.4
-
29
-
-
0029996849
-
Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity
-
Chiurazzi P, Genuardi M, Kozak L et al: Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity. Am J Med Genet 1996; 64: 209-215.
-
(1996)
Am J Med Genet
, vol.64
, pp. 209-215
-
-
Chiurazzi, P.1
Genuardi, M.2
Kozak, L.3
-
30
-
-
0026547912
-
Population genetics of the fragile-X syndrome: Multiallelic model for the FMRI locus
-
Morton NE, Macpherson JN: Population genetics of the fragile-X syndrome: Multiallelic model for the FMRI locus. Proc Natl Acad Sci USA 1992; 89: 4215-1217.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4215-11217
-
-
Morton, N.E.1
Macpherson, J.N.2
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