-
4
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick R.G., Jr.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
5
-
-
0028113115
-
Fragile X syndrome: Diagnostic and carrier testing
-
Working Group of the Genetic Screening Subcommittee of the Clinical Practice Committee. American College of Medical Genetics
-
(1994)
Am J Med Genet
, vol.53
, pp. 380-381
-
-
-
7
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Dews, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
8
-
-
0025970882
-
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
-
(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
-
12
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation
-
(1993)
Nat Genet
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.2
Reyniers, E.3
Vits, L.4
Hendrickx, J.5
Van Roy, B.6
Van den Bos, F.7
De Graaff, E.8
Oostra, B.A.9
Willems, P.J.10
-
14
-
-
0026907552
-
Fragile X syndrome without CCG amplification has an FMR1 deletion
-
(1992)
Nat Genet
, vol.1
, pp. 341-344
-
-
Gedeon, A.K.1
Baker, E.2
Robinson, H.3
Partington, M.W.4
Gross, B.5
Manca, A.6
Korn, B.7
Poustka, A.8
Yu, S.9
Sutherland, G.R.10
Mulley, J.C.11
-
18
-
-
0026781016
-
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
-
(1992)
Am J Hum Genet
, vol.51
, pp. 299-306
-
-
Wöhrle, D.1
Kotzot, D.2
Hirst, M.C.3
Manca, A.4
Korn, B.5
Schmidt, A.6
Barbi, G.7
Rott, H.D.8
Poustka, A.9
Davies, K.E.10
Steinbach, P.11
-
20
-
-
0028267736
-
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
-
(1994)
Hum Mol Genet
, vol.3
, pp. 615-620
-
-
Meijer, H.1
De Graaff, E.2
Merckx, D.M.3
Jongbloed, R.J.4
De Die-Smulders, C.E.5
Engelen, J.J.6
Fryns, J.P.7
Curfs, P.M.8
Oostra, B.A.9
-
22
-
-
0028979139
-
Two new cases of FMR1 deletion associated with mental impairment
-
(1995)
Am J Hum Genet
, vol.56
, pp. 67-74
-
-
Hirst, M.1
Grewal, P.2
Flannery, A.3
Slatter, R.4
Maher, E.5
Barton, D.6
Fryns, J.P.7
Davies, K.8
-
24
-
-
0029790975
-
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation
-
(1996)
Hum Genet
, vol.98
, pp. 409-414
-
-
Schmucker, B.1
Ballhausen, W.G.2
Pfeiffer, R.A.3
-
25
-
-
0018379975
-
Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects, and cytogenetics
-
(1979)
Am J Hum Genet
, vol.31
, pp. 136-148
-
-
Sutherland, G.R.1
-
30
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
(1995)
Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
De Vries, B.3
Devys, D.4
Van den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.8
-
31
-
-
17544386437
-
Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique
-
(1997)
Hum Genet
, vol.99
, pp. 308-311
-
-
Willemsen, R.1
Smits, A.2
Mohkamsing, S.3
Van Beerendonk, H.4
De Haan, A.5
De Vries, B.6
Van den Ouweland, A.7
Sistermans, E.8
Galjaard, H.9
Oostra, B.A.10
-
34
-
-
0021099528
-
Identification and quantification of levels of protein synthesis initiation factors in crude HeLa cell lysates by two-dimensional polyacrylamide gel electrophoresis
-
(1983)
J Biol Chem
, vol.258
, pp. 7228-7235
-
-
Duncan, R.1
Hershey, J.W.B.2
-
38
-
-
0034005899
-
Null alleles at the Huntington disease locus: Implications for diagnostics, and CAG repeat instability
-
(2000)
Genet Testing
, vol.4
, pp. 55-60
-
-
Williams, L.C.1
Hegde, M.R.2
Nagappan, R.3
Bullock, J.4
Faull, R.L.M.5
Winship, I.6
Snow, K.7
Love, D.R.8
-
39
-
-
0031010944
-
Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6
-
(1997)
EMBO J
, vol.16
, pp. 2482-2492
-
-
Kozak, M.1
|