-
2
-
-
0018388575
-
Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture
-
Sutherland GR. Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 1979;31:125-35.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 125-135
-
-
Sutherland, G.R.1
-
3
-
-
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 A, 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;65:905-14.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, A.2
Sutcliffe, J.S.3
-
4
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
-
5
-
-
0026865445
-
Characterisation of a new rare fragile site easily confused with the fragile X
-
Sutherland GR, Baker E. Characterisation of a new rare fragile site easily confused with the fragile X. Hum Mol Genet 1992;1:111-13.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 111-113
-
-
Sutherland, G.R.1
Baker, E.2
-
6
-
-
0026532628
-
Fragile site at Xq27.3 in a family without mental retardation
-
Romain DR, Chapman CJ. Fragile site at Xq27.3 in a family without mental retardation. Clin Genet 1992;42:33-5.
-
(1992)
Clin Genet
, vol.42
, pp. 33-35
-
-
Romain, D.R.1
Chapman, C.J.2
-
7
-
-
0026777140
-
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment and absence of the Martin-Bell phenotype
-
Dennis NR, Curtis G, MacPherson JN, Jacobs PA. Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment and absence of the Martin-Bell phenotype. Am J Med Genet 1992;43:232-6.
-
(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
-
8
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC, et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993;74:127-34.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
-
10
-
-
0027449978
-
The identification of a third fragile site, FRAXF, in Xq27-28
-
Hirst MC, Barnicoat A, Flynn G, et al. The identification of a third fragile site, FRAXF, in Xq27-28. Hum Mol Genet 1993;2:197-200.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 197-200
-
-
Hirst, M.C.1
Barnicoat, A.2
Flynn, G.3
-
11
-
-
0028099702
-
Isolation of a repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish JE, Oostra BE, Verkerk AJMH, et al. Isolation of a repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet 1994;8:229-35.
-
(1994)
Nat Genet
, vol.8
, pp. 229-235
-
-
Parrish, J.E.1
Oostra, B.E.2
Verkerk, A.J.M.H.3
-
12
-
-
0028567730
-
The cloning of FRAXF: Trinucleptide repeat expansion and methylation at a third fragile site in distal Xqter
-
Ritchie RJ, Knight SJ, Hirst MC, et al. The cloning of FRAXF: trinucleptide repeat expansion and methylation at a third fragile site in distal Xqter. Hum Mol Genet 1994; 3:2115-21.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2115-2121
-
-
Ritchie, R.J.1
Knight, S.J.2
Hirst, M.C.3
-
16
-
-
0019257241
-
The MRC handicaps, behaviour and skills (HBS) Schedule
-
Wing L. The MRC Handicaps, Behaviour and Skills (HBS) Schedule. Acta Psychiatr Scand 1980;62(suppl 285):241-8.
-
(1980)
Acta Psychiatr Scand
, vol.62
, Issue.285 SUPPL.
, pp. 241-248
-
-
Wing, L.1
-
17
-
-
0024791277
-
An efficient salt chloroform extraction of DNA from blood and tissues
-
Millenbach R, Lagoda PJL, Walter C. An efficient salt chloroform extraction of DNA from blood and tissues. Trends Genet 1989;5:391.
-
(1989)
Trends Genet
, vol.5
, pp. 391
-
-
Millenbach, R.1
Lagoda, P.J.L.2
Walter, C.3
-
18
-
-
1842353216
-
Analysis of human Y chromosome-specific reiterated DNA in chromosome variants
-
Kunkel LM, Smith KD, Boyer SH, et al. Analysis of human Y chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977;74:1245-9.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
-
19
-
-
0024447280
-
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy
-
Hodgson S, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet 1989;26:682-93.
-
(1989)
J Med Genet
, vol.26
, pp. 682-693
-
-
Hodgson, S.1
Hart, K.2
Abbs, S.3
-
20
-
-
0027991895
-
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
-
Knight SJL, Voelckel MA, Hirst MC, et al. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet 1994;55:81-6.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 81-86
-
-
Knight, S.J.L.1
Voelckel, M.A.2
Hirst, M.C.3
-
21
-
-
0027522796
-
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
-
Flynn GA, Hirst MC, Knight SJL, et al. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet 1993;30:97-100.
-
(1993)
J Med Genet
, vol.30
, pp. 97-100
-
-
Flynn, G.A.1
Hirst, M.C.2
Knight, S.J.L.3
-
22
-
-
0023855391
-
Psychiatric disability in female carriers of the fragile X chromosome
-
188
-
Reiss AL, Hagerman RJ, Vinogradov S, et al. Psychiatric disability in female carriers of the fragile X chromosome. Arch Gen Psychiatry 188;45:25-30.
-
Arch Gen Psychiatry
, vol.45
, pp. 25-30
-
-
Reiss, A.L.1
Hagerman, R.J.2
Vinogradov, S.3
-
24
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-81.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
-
25
-
-
0027968066
-
Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic and molecular data
-
Hamel BCJ, Smits APT, de Graaff E, et al. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic and molecular data. Am J Hum Genet 1994;55: 923-31.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 923-931
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
De Graaff, E.3
-
27
-
-
0026635021
-
Experience with direct molecular diagnosis of fragile X
-
Mulley JC, Yu S, Gedeon AK, et al. Experience with direct molecular diagnosis of fragile X. J Med Genet 1992;29: 368-74.
-
(1992)
J Med Genet
, vol.29
, pp. 368-374
-
-
Mulley, J.C.1
Yu, S.2
Gedeon, A.K.3
-
28
-
-
0026500706
-
The fragile X syndrome: On the way to a behavioural phenotype
-
Turk J. The fragile X syndrome: on the way to a behavioural phenotype. Br J Psychiatry 1992;160:24-35.
-
(1992)
Br J Psychiatry
, vol.160
, pp. 24-35
-
-
Turk, J.1
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