-
1
-
-
0024635050
-
Fragile X chromosome in institutionalized male adults with mental retardation
-
Aoi T, Takashima H, Takada T, Okada T (1989) Fragile X chromosome in institutionalized male adults with mental retardation. Keio J Med 38:36-39
-
(1989)
Keio J Med
, vol.38
, pp. 36-39
-
-
Aoi, T.1
Takashima, H.2
Takada, T.3
Okada, T.4
-
2
-
-
0027500851
-
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
-
Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H (1993) Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet 92:431-436
-
(1993)
Hum Genet
, vol.92
, pp. 431-436
-
-
Arinami, T.1
Asano, M.2
Kobayashi, K.3
Yanagi, H.4
Hamaguchi, H.5
-
3
-
-
0022550486
-
Frequency of the fragile X syndrome in Japanese mentally retarded males
-
Arinami T, Kondo I, Nakajima S (1986) Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet 73:309-312
-
(1986)
Hum Genet
, vol.73
, pp. 309-312
-
-
Arinami, T.1
Kondo, I.2
Nakajima, S.3
-
4
-
-
0022415870
-
A community study of severe mental retardation in the west Midlands and the importance of the fragile X chromosome in its aetiology
-
Bundey S, Webb T, Thake A, Todd J (1985) A community study of severe mental retardation in the west Midlands and the importance of the fragile X chromosome in its aetiology. J Med Genet 22:258-266
-
(1985)
J Med Genet
, vol.22
, pp. 258-266
-
-
Bundey, S.1
Webb, T.2
Thake, A.3
Todd, J.4
-
5
-
-
0027366312
-
Founder effect in a Belgian-Dutch fragile X population
-
Buyle S, Reyniers E, Vits L, De Boulle K, Handig I, Wuyts FLE, Deelen W, et al (1993) Founder effect in a Belgian-Dutch fragile X population. Hum Genet 92:269-272
-
(1993)
Hum Genet
, vol.92
, pp. 269-272
-
-
Buyle, S.1
Reyniers, E.2
Vits, L.3
De Boulle, K.4
Handig, I.5
Wuyts, F.L.E.6
Deelen, W.7
-
6
-
-
0026894539
-
Fragile X founder effect?
-
Chakravarti A (1992) Fragile X founder effect? Nat Genet 1: 237-238
-
(1992)
Nat Genet
, vol.1
, pp. 237-238
-
-
Chakravarti, A.1
-
7
-
-
0028886722
-
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
-
Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL (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
-
8
-
-
0028168645
-
Length of uninterrupted CGG repeats determines stability in the FMR1 gene
-
Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, et al (1994) Length of uninterrupted CGG repeats determines stability 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
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
-
9
-
-
0029916569
-
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
-
Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL (1996) Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet 5:319-330
-
(1996)
Hum Mol Genet
, vol.5
, pp. 319-330
-
-
Eichler, E.E.1
Macpherson, J.N.2
Murray, A.3
Jacobs, P.A.4
Chakravarti, A.5
Nelson, D.L.6
-
10
-
-
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 A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, 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.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
-
11
-
-
0027947475
-
The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes
-
Haataja R, Vaisanen ML, Li M, Ryynanen M, Leisti J (1994) The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 94:479-483
-
(1994)
Hum Genet
, vol.94
, pp. 479-483
-
-
Haataja, R.1
Vaisanen, M.L.2
Li, M.3
Ryynanen, M.4
Leisti, J.5
-
12
-
-
0028133504
-
Precursor arrays for triplet repeat expansion at the fragile X locus
-
Hirst MC, 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.C.1
Grewal, P.K.2
Davies, K.E.3
-
13
-
-
0027279817
-
Origins of the fragile X syndrome mutation
-
Hirst MC, Knight SJL, Christodoulou Z, Grewal PK, Fryns JP, Davies KE (1993) Origins of the fragile X syndrome mutation. J Med Genet 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
-
14
-
-
0027173002
-
Population studies of the fragile (X): A molecular approach
-
Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR (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
-
15
-
-
0022568745
-
Studies of the fragile(X) syndrome in mentally retarded populations in Hawaii
-
Jacobs P, Sherman S, Turner G, Webb T (1986) Studies of the fragile(X) syndrome in mentally retarded populations in Hawaii. Am J Med Genet 23:611-617
-
(1986)
Am J Med Genet
, vol.23
, pp. 611-617
-
-
Jacobs, P.1
Sherman, S.2
Turner, G.3
Webb, T.4
-
16
-
-
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
-
17
-
-
0023759213
-
A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome
-
Li S, Tsai C, Chou M, Lin J (1988) A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome. Hum Genet 79:292-296
-
(1988)
Hum Genet
, vol.79
, pp. 292-296
-
-
Li, S.1
Tsai, C.2
Chou, M.3
Lin, J.4
-
18
-
-
0027672843
-
Y-Chromosome-specific haplotype diversity in Ashkenazic and Sephardic Jews
-
Lucotte G, Smets P, Ruffie J (1993) Y-Chromosome-specific haplotype diversity in Ashkenazic and Sephardic Jews. Hum Biol 65:835-840
-
(1993)
Hum Biol
, vol.65
, pp. 835-840
-
-
Lucotte, G.1
Smets, P.2
Ruffie, J.3
-
19
-
-
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 (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
-
20
-
-
0028240436
-
Strong founder effect for the fragile X syndrome in Sweden
-
Malmgren H, Gustavson KH, Oudet C, Holmgren G, Petterson U, Dahl N (1994) Strong founder effect for the fragile X syndrome in Sweden. Eur J Hum Genet 2:103-109
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 103-109
-
-
Malmgren, H.1
Gustavson, K.H.2
Oudet, C.3
Holmgren, G.4
Petterson, U.5
Dahl, N.6
-
21
-
-
0026547912
-
Population genetics of the fragile X syndrome: A multiallelic model for the FMR1 locus
-
Morton NE, Macpherson JN (1992) Population genetics of the fragile X syndrome: a multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 89:4215-4217
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4215-4217
-
-
Morton, N.E.1
Macpherson, J.N.2
-
22
-
-
13144256441
-
Quelques donnees sur les groupes sanguins des Tunisiens
-
Moullec J, Abdelmoula H (1954) Quelques donnees sur les groupes sanguins des Tunisiens. Sem Hop Paris 30:361-362
-
(1954)
Sem Hop Paris
, vol.30
, pp. 361-362
-
-
Moullec, J.1
Abdelmoula, H.2
-
24
-
-
0029977269
-
Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
-
Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, et al (1996) Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 5:727-736
-
(1996)
Hum Mol Genet
, vol.5
, pp. 727-736
-
-
Murray, A.1
Youings, S.2
Dennis, N.3
Latsky, L.4
Linehan, P.5
McKechnie, N.6
Macpherson, J.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 JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, et al (1993a) 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
Lentes-Zengerling, S.5
Kretz, C.6
Deluchat, C.7
-
26
-
-
0027793747
-
Striking founder effect for the fragile X syndrome in Finland
-
Oudet C, von Koskull H, Nordstrom AM, Peippo M, Mandel JL (1993b) Striking founder effect for the fragile X syndrome in Finland. Eur J Hum Genet 1:181-189
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 181-189
-
-
Oudet, C.1
Von Koskull, H.2
Nordstrom, A.M.3
Peippo, M.4
Mandel, J.L.5
-
28
-
-
0021348620
-
Fragile-X syndrome in Hawaii: A summary of clinical experience
-
Rhoads FA (1984) Fragile-X syndrome in Hawaii: a summary of clinical experience. Am J Med Genet 17:209-214
-
(1984)
Am J Med Genet
, vol.17
, pp. 209-214
-
-
Rhoads, F.A.1
-
29
-
-
0026893655
-
Evidence of founder chromosomes in fragile X syndrome
-
Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, 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
Kremer, E.4
Hillen, D.5
Staples, A.6
Brown, W.T.7
-
30
-
-
0028246324
-
Haplotype analysis at the FRAXA locus in the Japanese population
-
Richards RI, Kondo I, Homan K, Yamauchi M, Seki N, Kunikazu K, Sutherland GR, et al (1994) Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 51:412-416
-
(1994)
Am J Med Genet
, vol.51
, pp. 412-416
-
-
Richards, R.I.1
Kondo, I.2
Homan, K.3
Yamauchi, M.4
Seki, N.5
Kunikazu, K.6
Sutherland, G.R.7
-
31
-
-
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, Khandjian EW, Morel M-L, 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 59: 1006-1018
-
(1995)
Am J Hum Genet
, vol.59
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Khandjian, E.W.3
Morel, M.-L.4
Morgan, K.5
-
32
-
-
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
-
33
-
-
0026017364
-
DNA polymorphism in two communities of Jews
-
Tikochinksi Y, Ritte U, Gross S, Prager EM, Wilson AC (1991) mtDNA polymorphism in two communities of Jews. Am J Hum Genet 48:129-136
-
(1991)
Am J Hum Genet
, vol.48
, pp. 129-136
-
-
Tikochinksi, Y.1
Ritte, U.2
Gross, S.3
Prager, E.M.4
Wilson, A.C.5
-
34
-
-
0018820142
-
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site
-
Turner G, Daniel A, Frost M (1980) X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr 96:837-841
-
(1980)
J Pediatr
, vol.96
, pp. 837-841
-
-
Turner, G.1
Daniel, A.2
Frost, M.3
-
35
-
-
0021243103
-
No marker (X) chromosome in autistic children
-
Venter P, Op't Hof J, Coetzee D, Van der Walt C, Retief A (1984) No marker (X) chromosome in autistic children. Hum Genet 67:107-111
-
(1984)
Hum Genet
, vol.67
, pp. 107-111
-
-
Venter, P.1
Op't Hof, J.2
Coetzee, D.3
Van Der Walt, C.4
Retief, A.5
-
36
-
-
0022911920
-
The frequency of the fragile X chromosome among schoolchildren in Coventry
-
Webb TP, Bundey S, Thake A, Todd J (1986a) The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 23:396-369
-
(1986)
J Med Genet
, vol.23
, pp. 396-1369
-
-
Webb, T.P.1
Bundey, S.2
Thake, A.3
Todd, J.4
-
37
-
-
0022595514
-
Population incidence and segregation ratios in the Martin Bell syndrome
-
_ (1986b) 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
-
-
-
38
-
-
0027376362
-
A complex mutable polymorphism located within the fragile X gene
-
Zhong N, Dobkin C, Brown WT (1993) A complex mutable polymorphism located within the fragile X gene. Nat Genet 5:248-253
-
(1993)
Nat Genet
, vol.5
, pp. 248-253
-
-
Zhong, N.1
Dobkin, C.2
Brown, W.T.3
-
39
-
-
0029017085
-
Fragile X gene instability: Anchoring AGGs and linked microsatellites
-
Zhong N, Yang W, Dobkin C, Brown WT (1995) Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361
-
(1995)
Am J Hum Genet
, vol.57
, pp. 351-361
-
-
Zhong, N.1
Yang, W.2
Dobkin, C.3
Brown, W.T.4
-
40
-
-
0028283364
-
Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?
-
Zhong N, Ye L, Dobkin C, Brown WT (1994) Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity? Am J Med Genet 5:405-411
-
(1994)
Am J Med Genet
, vol.5
, pp. 405-411
-
-
Zhong, N.1
Ye, L.2
Dobkin, C.3
Brown, W.T.4
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