-
2
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
2 Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, 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
Blumenfeld, S.4
Kretz, C.5
Boué, J.6
-
3
-
-
0025760752
-
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island
-
3 Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, et al. Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science 1991; 251: 1236-9
-
(1991)
Science
, vol.251
, pp. 1236-1239
-
-
Heitz, D.1
Rousseau, F.2
Devys, D.3
Saccone, S.4
Abderrahim, H.5
Le Paslier, D.6
-
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
-
4 Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, 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, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
-
5
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
5 Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991; 252: 1179-81
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
-
7
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
7 Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, 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
Kretz, C.4
Devys, D.5
Hanauer, A.6
-
8
-
-
0025726402
-
Molecular cloning and analysis of the fragile X region in man
-
8 Dietrich A, Kioschis P, Monaco AP, Gross B, Williams SV, Sheer D, et al. Molecular cloning and analysis of the fragile X region in man. Nucleic Acids Res 1991; 19: 2567-72
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 2567-2572
-
-
Dietrich, A.1
Kioschis, P.2
Monaco, A.P.3
Gross, B.4
Williams, S.V.5
Sheer, D.6
-
9
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
9 Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-58
-
(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
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
10 Miller SS, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.S.1
Dykes, D.D.2
Polesky, H.F.3
-
11
-
-
0026689694
-
On some technical aspects of direct DNA diagnosis of the fragile X syndrome
-
11 Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel JL, et al. On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 1992; 43: 197-207
-
(1992)
Am J Med Genet
, vol.43
, pp. 197-207
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Oberlé, I.4
Mandel, J.L.5
-
12
-
-
0019922296
-
The fragile X(q27)form of X-linked mental retardation: FudR as an inducing agent for fraX(q27) expression in lymphocytes, fibroblasts and amniocytes
-
12 Brookwell R, Daniel A, Turner G, Fishburn J. The fragile X(q27)form of X-linked mental retardation: FudR as an inducing agent for fraX(q27) expression in lymphocytes, fibroblasts and amniocytes. Am J Med Genet 1982; 13: 139-48
-
(1982)
Am J Med Genet
, vol.13
, pp. 139-148
-
-
Brookwell, R.1
Daniel, A.2
Turner, G.3
Fishburn, J.4
-
13
-
-
0004935613
-
Lymphocyte culture for chromosome analysis and chromosome staining and banding techniques
-
Oxford: IRL Press
-
13 Rooney DE, Czepulkowski BH. Lymphocyte culture for chromosome analysis and chromosome staining and banding techniques In: Human Cytogenetics: A Practical Approach. Oxford: IRL Press, 1987: 52-83
-
(1987)
Human Cytogenetics: A Practical Approach
, pp. 52-83
-
-
Rooney, D.E.1
Czepulkowski, B.H.2
-
14
-
-
0026547912
-
Population genetics of fragile-X syndrome: Multiallelic model for the FMR1 locus
-
14 Morton EN, Macpherson JN. Population genetics of fragile-X syndrome: multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 1992; 89: 4215-7
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4215-4217
-
-
Morton, E.N.1
Macpherson, J.N.2
-
15
-
-
0027500851
-
The 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 mutation
-
15 Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H. The 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 mutation. Hum Genet 1993; 92: 431-6
-
(1993)
Hum Genet
, vol.92
, pp. 431-436
-
-
Arinami, T.1
Asano, M.2
Kobayashi, K.3
Yanagi, H.4
Hamaguchi, H.5
-
16
-
-
0030815036
-
Variation of the CGG repeat in the FMR-1 gene in normal and fragile X Chinese subjects
-
16 Chen TA, Lu XF, Che PK, Ho Walter KK. Variation of the CGG repeat in the FMR-1 gene in normal and fragile X Chinese subjects. Ann Clin Biochem 1997; 34: 517-20
-
(1997)
Ann Clin Biochem
, vol.34
, pp. 517-520
-
-
Chen, T.A.1
Lu, X.F.2
Che, P.K.3
Ho Walter, K.K.4
-
18
-
-
0033612245
-
Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients
-
18 Pang CP, Poon PM, Chen QL, Lai KY, Yin CH, Zhao Z, et al. Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients. Am J Med Genet 1999, 84: 179-83
-
(1999)
Am J Med Genet
, vol.84
, pp. 179-183
-
-
Pang, C.P.1
Poon, P.M.2
Chen, Q.L.3
Lai, K.Y.4
Yin, C.H.5
Zhao, Z.6
-
19
-
-
10544236904
-
Dynamic mutation loci: Allele distribution in different populations
-
19 Richards RI, Crawford J, Narahar K, Mangelsdorf M, Friend K, Staples A, et al. Dynamic mutation loci: allele distribution in different populations. Ann Hum Genet 1996; 60: 391-400
-
(1996)
Ann Hum Genet
, vol.60
, pp. 391-400
-
-
Richards, R.I.1
Crawford, J.2
Narahar, K.3
Mangelsdorf, M.4
Friend, K.5
Staples, A.6
-
20
-
-
0031892255
-
Triplet repeat polymorphism and fragile X syndrome in the Indian context
-
20 Baskaran S, Naseerullah MK, Manjunatha KR, Chetan GK, Arthi R, Bhaskar Rao GV, et al. Triplet repeat polymorphism and fragile X syndrome in the Indian context. Indian J Med Res 1998; 107: 29-36
-
(1998)
Indian J Med Res
, vol.107
, pp. 29-36
-
-
Baskaran, S.1
Naseerullah, M.K.2
Manjunatha, K.R.3
Chetan, G.K.4
Arthi, R.5
Bhaskar Rao, G.V.6
-
21
-
-
0030833799
-
Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
-
21 Moutou C, Vincent MC, Biancalana V, Mandel JL. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 1997; 6: 971-9
-
(1997)
Hum Mol Genet
, vol.6
, pp. 971-979
-
-
Moutou, C.1
Vincent, M.C.2
Biancalana, V.3
Mandel, J.L.4
-
22
-
-
0030015140
-
Tissue differences in fragile X mosaics: Mosaicism in blood may differ greatly from skin
-
22 Dobkin CS, Nolin SL, Cohen I, Sudhalter V, Bialer MG, Ding XH. Tissue differences in fragile X mosaics: mosaicism in blood may differ greatly from skin. Am J Med Genet 1996; 64: 296-301
-
(1996)
Am J Med Genet
, vol.64
, pp. 296-301
-
-
Dobkin, C.S.1
Nolin, S.L.2
Cohen, I.3
Sudhalter, V.4
Bialer, M.G.5
Ding, X.H.6
-
23
-
-
0031927772
-
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: A new case
-
23 Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A. Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case. Am J Med Genet 1998; 78: 341-4
-
(1998)
Am J Med Genet
, vol.78
, pp. 341-344
-
-
Orrico, A.1
Galli, L.2
Dotti, M.T.3
Plewnia, K.4
Censini, S.5
Federico, A.6
-
24
-
-
0033612139
-
Mosaicism for a full mutation and a normal allele in two fragile X males
-
24 Schmucker B, Seidel J. Mosaicism for a full mutation and a normal allele in two fragile X males. Am J Med Genet 1999; 84: 221-5
-
(1999)
Am J Med Genet
, vol.84
, pp. 221-225
-
-
Schmucker, B.1
Seidel, J.2
-
25
-
-
0029906262
-
A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
-
25 Maddalena A, Yadvish KN, Spence WC, Howard-Peebles PN. A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood. Am J Med Genet 1996; 64: 309-12
-
(1996)
Am J Med Genet
, vol.64
, pp. 309-312
-
-
Maddalena, A.1
Yadvish, K.N.2
Spence, W.C.3
Howard-Peebles, P.N.4
-
26
-
-
0025482806
-
Mental retardation syndromes with associated ocular defects
-
26 Maino DM, Maino JH, Maino SA. Mental retardation syndromes with associated ocular defects. J Am Optom Assoc 1990; 61: 707-16
-
(1990)
J Am Optom Assoc
, vol.61
, pp. 707-716
-
-
Maino, D.M.1
Maino, J.H.2
Maino, S.A.3
-
27
-
-
0029603590
-
Perspectives and molecular diagnosis of the fragile X syndrome
-
27 Brown WT. Perspectives and molecular diagnosis of the fragile X syndrome [review]. Clin Lab Med 1995; 15: 859-75
-
(1995)
Clin Lab Med
, vol.15
, pp. 859-875
-
-
Brown, W.T.1
-
28
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome
-
28 Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K. 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 1995; 57: 1006-18
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.-L.3
Khandjian, E.W.4
Morgan, K.5
-
29
-
-
0026907552
-
Fragile X syndrome without CGG amplification has an FMR1 deletion
-
29 Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, et al. Fragile X syndrome without CGG amplification has an FMR1 deletion. Nat Genet 1992; 1: 341-4
-
(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
-
30
-
-
0027489281
-
An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
-
30 Tarleton J, Richie R, Schwartz C, Rao K, Aylesworth AS, Lachiewicz A. An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum Mol Genet 1993; 2: 1973-4
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1973-1974
-
-
Tarleton, J.1
Richie, R.2
Schwartz, C.3
Rao, K.4
Aylesworth, A.S.5
Lachiewicz, A.6
-
31
-
-
0026781016
-
A microdeletion of less than 250 kb including the proximal part of the FMR1 gene and the fragile X-site, in a male with the clinical phenotype of the fragile X syndrome
-
31 Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, et al. A microdeletion of less than 250 kb including the proximal part of the FMR1 gene and the fragile X-site, in a male with the clinical phenotype of the fragile X syndrome. Am J Hum Genet 1992; 51: 299-306
-
(1992)
Am J Hum Genet
, vol.51
, pp. 299-306
-
-
Wohrle, D.1
Kotzot, D.2
Hirst, M.C.3
Manca, A.4
Korn, B.5
Schmidt, A.6
-
32
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile-X mental retardation
-
32 De Boulle K, Verkerk AJMH, Reyniers E, Vits L, Hendrickx L, Van Roy B, et al. A point mutation in the FMR-1 gene associated with fragile-X mental retardation. Nat Genet 1993; 3: 31-5
-
(1993)
Nat Genet
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.M.H.2
Reyniers, E.3
Vits, L.4
Hendrickx, L.5
Van Roy, B.6
|