-
1
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, 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.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
-
2
-
-
0028277519
-
The fragile X syndrome: Implications of molecular genetics for the clinical syndrome
-
Rousseau F. The fragile X syndrome: implications of molecular genetics for the clinical syndrome Eur J Clin Invest 1994;24:1-10.
-
(1994)
Eur J Clin Invest
, vol.24
, pp. 1-10
-
-
Rousseau, F.1
-
3
-
-
0000524625
-
A pedigree of mental defect showing sex-linkage
-
Martin JB, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatr 1943;6:154-7.
-
(1943)
J Neurol Psychiatr
, vol.6
, pp. 154-157
-
-
Martin, J.B.1
Bell, J.2
-
5
-
-
0001828673
-
Hereditary mental defect showing the pattern of sex influence
-
Losowsky MS. Hereditary mental defect showing the pattern of sex influence. J Ment Defic Res 1961;5:60-2.
-
(1961)
J Ment Defic Res
, vol.5
, pp. 60-62
-
-
Losowsky, M.S.1
-
8
-
-
0014517848
-
A marker X chromosome
-
Lubs HA. A marker X chromosome. Am J Hum Genet 1969;21:231-44.
-
(1969)
Am J Hum Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.A.1
-
9
-
-
0017381277
-
Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
-
Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:265-6.
-
(1977)
Science
, vol.197
, pp. 265-266
-
-
Sutherland, G.R.1
-
10
-
-
0016248119
-
X-linked mental retardation
-
Turner G, Turner B. X-linked mental retardation. J Med Genet 1974;11:109-13.
-
(1974)
J Med Genet
, vol.11
, pp. 109-113
-
-
Turner, G.1
Turner, B.2
-
11
-
-
0019206072
-
X-linked mental retardation: A study of 7 families
-
Jacobs PA, Glover TW, Mayer M, Fox P, Gerrard JW, Dunn HG, et al. X-linked mental retardation: a study of 7 families. Am J Med Genet 1980;7:471-89.
-
(1980)
Am J Med Genet
, vol.7
, pp. 471-489
-
-
Jacobs, P.A.1
Glover, T.W.2
Mayer, M.3
Fox, P.4
Gerrard, J.W.5
Dunn, H.G.6
-
12
-
-
0019131758
-
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome)
-
Jennings M, Hall JG, Hoehn H. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet 1980;7:417-32.
-
(1980)
Am J Med Genet
, vol.7
, pp. 417-432
-
-
Jennings, M.1
Hall, J.G.2
Hoehn, H.3
-
13
-
-
0019167260
-
X-linked mental retardation with macro-orchidism and marker-X chromosomes
-
Martin RH, Lin CC, Mathies BJ, Lowry RB. X-linked mental retardation with macro-orchidism and marker-X chromosomes. Am J Med Genet 1980;7:433-41.
-
(1980)
Am J Med Genet
, vol.7
, pp. 433-441
-
-
Martin, R.H.1
Lin, C.C.2
Mathies, B.J.3
Lowry, R.B.4
-
14
-
-
0019654133
-
Fragile X-linked mental retardation: The Martin-Bell syndrome
-
Richards BW, Sylvester PE, Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 1981;25:253-6.
-
(1981)
J Ment Defic Res
, vol.25
, pp. 253-256
-
-
Richards, B.W.1
Sylvester, P.E.2
Brooker, C.3
-
15
-
-
0034608670
-
Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males
-
Lachiewicz AM, Dawson VV, Spiridigliozzi UA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet 2000;92:229-36.
-
(2000)
Am J Med Genet
, vol.92
, pp. 229-236
-
-
Lachiewicz, A.M.1
Dawson, V.V.2
Spiridigliozzi, U.A.3
-
16
-
-
0002061753
-
Towards a neuropsychology of fragile X syndrome
-
Hagerman R.J. and Silverman A.C editors. The Johns Hopkins University Press Ltd, London
-
Pennington BF, O'Connor RA, Sudhalter V. Towards a neuropsychology of fragile X syndrome. In: Hagerman R.J. and Silverman A.C editors. Fragile X syndrome: diagnosis, treatment and research. The Johns Hopkins University Press Ltd, London 1991. pp. 173-201.
-
(1991)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 173-201
-
-
Pennington, B.F.1
O'Connor, R.A.2
Sudhalter, V.3
-
17
-
-
0026049528
-
Intelligence and the fra (X) syndrome: A review
-
Curfs LM, Wiegers AM, Fryns JP. Intelligence and the fra (X) syndrome: a review. Genet Couns 1991;2:55-62.
-
(1991)
Genet Couns
, vol.2
, pp. 55-62
-
-
Curfs, L.M.1
Wiegers, A.M.2
Fryns, J.P.3
-
18
-
-
0344099490
-
The X chromosome and fragile X mental retardation
-
Oostra BA, Willemsen R. The X chromosome and fragile X mental retardation. Cytogenet Genome Res 2002;99:257-64.
-
(2002)
Cytogenet Genome Res
, vol.99
, pp. 257-264
-
-
Oostra, B.A.1
Willemsen, R.2
-
19
-
-
0026354010
-
Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
-
Rousseau F, Heitz D, Oberle I, Mandel JL. Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet 1991;8:830-6.
-
(1991)
J Med Genet
, vol.8
, pp. 830-836
-
-
Rousseau, F.1
Heitz, D.2
Oberle, I.3
Mandel, J.L.4
-
20
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, et al. Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996;58:1025-32.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1025-1032
-
-
De Vries, B.B.1
Wiegers, A.M.2
Smits, A.P.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.P.6
-
21
-
-
0020327807
-
Autism is associated with the fragile-X syndrome
-
Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, et al. Autism is associated with the fragile-X syndrome. J Autism Dev Disord 1982;12:303-8.
-
(1982)
J Autism Dev Disord
, vol.12
, pp. 303-308
-
-
Brown, W.T.1
Jenkins, E.C.2
Friedman, E.3
Brooks, J.4
Wisniewski, K.5
Raguthu, S.6
-
22
-
-
0022612801
-
An analysis of autism in fifty males with the fragile X syndrome
-
Hagerman RJ, Jackson AW, Levitas A, Rimland B, Braden M. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 1986;23:359-74.
-
(1986)
Am J Med Genet
, vol.23
, pp. 359-374
-
-
Hagerman, R.J.1
Jackson, A.W.2
Levitas, A.3
Rimland, B.4
Braden, M.5
-
23
-
-
0022569656
-
Psychiatric disability associated with the fragile X chromosome
-
Reiss AL, Feinstein C, Toomey KE, Goldsmith B, Rosenbaum K, Caruso MA. Psychiatric disability associated with the fragile X chromosome. Am J Med Genet 1986;23:393-401.
-
(1986)
Am J Med Genet
, vol.23
, pp. 393-401
-
-
Reiss, A.L.1
Feinstein, C.2
Toomey, K.E.3
Goldsmith, B.4
Rosenbaum, K.5
Caruso, M.A.6
-
25
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Silverman MS, editors. London: Johns Hopkins Press Ltd
-
Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Silverman MS, editors. Fragile X syndrome. Diagnosis treatment and research. London: Johns Hopkins Press Ltd; 1991. pp. 3-68
-
(1991)
Fragile X Syndrome. Diagnosis Treatment and Research
, pp. 3-68
-
-
Hagerman, R.J.1
-
26
-
-
0026649793
-
Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children
-
Reiss AL, Freund L. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. Am J Med Genet 1992;43:35-46.
-
(1992)
Am J Med Genet
, vol.43
, pp. 35-46
-
-
Reiss, A.L.1
Freund, L.2
-
29
-
-
0019916015
-
Transmission of fragile (X)(827) from normal male(s)
-
Fryns JP, van den Berghe H. Transmission of fragile (X)(827) from normal male(s). Hum Genet 1982;61:262-3.
-
(1982)
Hum Genet
, vol.61
, pp. 262-263
-
-
Fryns, J.P.1
Van Den Berghe, H.2
-
30
-
-
0019858520
-
X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers
-
Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet 1981;59:23-5.
-
(1981)
Hum Genet
, vol.59
, pp. 23-25
-
-
Nielsen, K.B.1
Tommerup, N.2
Poulsen, H.3
Mikkelsen, M.4
-
32
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
Sherman SL, Jacobs P, Morton N, Froster-Iskenius U, Howard-Peebles P, Nielsen K, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:289-99.
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.2
Morton, N.3
Froster-Iskenius, U.4
Howard-Peebles, P.5
Nielsen, K.6
-
33
-
-
0022666944
-
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA-markers
-
USA
-
Oberlé I, Heilig R, Moisan J, Kloepher C, Mattei M, Mattei J, et al. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA-markers. Proc Natl Acad Sci USA 1986;83:1016-20.
-
(1986)
Proc Natl Acad Sci
, vol.83
, pp. 1016-1020
-
-
Oberlé, I.1
Heilig, R.2
Moisan, J.3
Kloepher, C.4
Mattei, M.5
Mattei, J.6
-
34
-
-
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 AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, 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.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
-
35
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002;12:278-83
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
36
-
-
0026462708
-
Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
-
Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 1992;29:794-801.
-
(1992)
J Med Genet
, vol.29
, pp. 794-801
-
-
Heitz, D.1
Devys, D.2
Imbert, G.3
Kretz, C.4
Mandel, J.L.5
-
37
-
-
0035500835
-
Neurobehavioral phenotype in carriers of the fragile X premutation
-
Johnston C, Eliez S, Dyer-Friedman J, Hessl D, Glaser B, Blasey C, et al. Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet 2001;103:314-9.
-
(2001)
Am J Med Genet
, vol.103
, pp. 314-319
-
-
Johnston, C.1
Eliez, S.2
Dyer-Friedman, J.3
Hessl, D.4
Glaser, B.5
Blasey, C.6
-
38
-
-
0345538689
-
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers
-
Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 2003;100:206-12
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 206-212
-
-
Hagerman, P.J.1
Greco, C.M.2
Hagerman, R.J.3
-
40
-
-
0342803598
-
Rare variants in the promoter of the fragile X syndrome gene (FMR1)
-
Mila M, Castellvi-Bel S, Sanchez A, Barcelo A, Badenas C, Mallolas J, et al. Rare variants in the promoter of the fragile X syndrome gene (FMR1). Mol Cell Probes 2000;14:115-9.
-
(2000)
Mol Cell Probes
, vol.14
, pp. 115-119
-
-
Mila, M.1
Castellvi-Bel, S.2
Sanchez, A.3
Barcelo, A.4
Badenas, C.5
Mallolas, J.6
-
41
-
-
0026907552
-
Fragile X syndrome without CCG amplification has an FMRI deletion
-
Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, et al. Fragile X syndrome without CCG amplification has an FMRI 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
-
42
-
-
0026781016
-
A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
-
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 FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of 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
-
43
-
-
0027489281
-
An extensive de novo deletion removing FMRI in a patient with mental retardation and the fragile X syndrome phenotype
-
Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. An extensive de novo deletion removing FMRI 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
Aylsworth, A.S.5
Lachiewicz, A.6
-
44
-
-
0028122686
-
A de novo deletion in FMRI in a patient with developmental delay
-
Gu Y, Lugenbeel KA, Vockley JG, Grody WW, Nelson DL. A de novo deletion in FMRI in a patient with developmental delay. Hum Mol Genet 1994;3:1705-6.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1705-1706
-
-
Gu, Y.1
Lugenbeel, K.A.2
Vockley, J.G.3
Grody, W.W.4
Nelson, D.L.5
-
45
-
-
0029153893
-
Spontaneous deletion in the FMRI gene in a patient with fragile X syndrome and cherubism
-
Quan F, Grompe M, Jakobs P, Popovich BW. Spontaneous deletion in the FMRI gene in a patient with fragile X syndrome and cherubism. Hum Mol Genet 1995;4:1681-4.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1681-1684
-
-
Quan, F.1
Grompe, M.2
Jakobs, P.3
Popovich, B.W.4
-
46
-
-
0028936072
-
An atypical case of fragile X syndrome caused by a deletion that includes the FMRI gene
-
Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW. An atypical case of fragile X syndrome caused by a deletion that includes the FMRI gene. Am J Hum Genet 1995;56:1042-51.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1042-1051
-
-
Quan, F.1
Zonana, J.2
Gunter, K.3
Peterson, K.L.4
Magenis, R.E.5
Popovich, B.W.6
-
47
-
-
19144367229
-
FMR1 in global populations
-
Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, et al. FMR1 in global populations. Am J Hum Genet 1996;58:513-22.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 513-522
-
-
Kunst, C.B.1
Zerylnick, C.2
Karickhoff, L.3
Eichler, E.4
Bullard, J.5
Chalifoux, M.6
-
48
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
Nolin SL, Lewis FA, Ye LL, Houck GE, Glicksman AE, Limprasert P, et al. Familial transmission of the FMR1 CGG repeat.Am J Hum Genet 1996;59:1252-61.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis, F.A.2
Ye, L.L.3
Houck, G.E.4
Glicksman, A.E.5
Limprasert, P.6
-
49
-
-
0030580987
-
Significance of linkage disequilibrium between the fragile X locus and its flanking markers
-
Chiurazzi P, Macpherson J, Sherman S, Neri G. Significance of linkage disequilibrium between the fragile X locus and its flanking markers. Am J Med Genet 1996;64:203-8.
-
(1996)
Am J Med Genet
, vol.64
, pp. 203-208
-
-
Chiurazzi, P.1
Macpherson, J.2
Sherman, S.3
Neri, G.4
-
50
-
-
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. The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 1994;94:479-83.
-
(1994)
Hum Genet
, vol.94
, pp. 479-483
-
-
Haataja, R.1
Vaisanen, M.L.2
Li, M.3
Ryynanen, M.4
Leisti, J.5
-
51
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-40.
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
52
-
-
0036766552
-
New insights into the function of fragile X mental retardation protein. Hotspot
-
Mittal B, Pandey UB. New insights into the function of fragile X mental retardation protein. Hotspot. Clin Genet 2002;62:191-5.
-
(2002)
Clin Genet
, vol.62
, pp. 191-195
-
-
Mittal, B.1
Pandey, U.B.2
-
53
-
-
0035746538
-
FMRI and the fragile X syndrome: Human genome epidemiology review
-
Crawford DC, Acuna JM, Sherman SL. FMRI and the fragile X syndrome: human genome epidemiology review. Genet Med 2001;3:359-71.
-
(2001)
Genet Med
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuna, J.M.2
Sherman, S.L.3
-
54
-
-
0035184510
-
Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population
-
Sharma D, Gupta M, Thelma BK. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol 2001;20:129-44.
-
(2001)
Genet Epidemiol
, vol.20
, pp. 129-144
-
-
Sharma, D.1
Gupta, M.2
Thelma, B.K.3
-
55
-
-
0035012641
-
Fragile X syndrome in Calcutta, India
-
Saha S, Karmakar P, Chatterjee C, Banerjee D, Das S, Dasgupta UB. Fragile X syndrome in Calcutta, India. Ann Clin Biochem 2001;38:264-71.
-
(2001)
Ann Clin Biochem
, vol.38
, pp. 264-271
-
-
Saha, S.1
Karmakar, P.2
Chatterjee, C.3
Banerjee, D.4
Das, S.5
Dasgupta, U.B.6
-
56
-
-
0036912444
-
Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation
-
Pandey UB, Phadke S, Mittel B. Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genet Test 2002;6:335-9
-
(2002)
Genet Test
, vol.6
, pp. 335-339
-
-
Pandey, U.B.1
Phadke, S.2
Mittel, B.3
-
57
-
-
0032112677
-
Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India
-
Jain U, Verma IC, Kapoor AK. Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India. Ind J Med Res 1998;108:12-6.
-
(1998)
Ind J Med Res
, vol.108
, pp. 12-16
-
-
Jain, U.1
Verma, I.C.2
Kapoor, A.K.3
-
59
-
-
0022595514
-
Population incidence and segregation ratios in the Martin-Bell syndrome
-
Webb TP, Bundey SE, Thake AI, Todd J. Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet 1986;23:573-80
-
(1986)
Am J Med Genet
, vol.23
, pp. 573-580
-
-
Webb, T.P.1
Bundey, S.E.2
Thake, A.I.3
Todd, J.4
-
60
-
-
0023492052
-
Prevalence of the fragile X syndrome in four birth cohorts of children of school age
-
Kahkonen M, Alitalo T, Airaksinen E, Matilainen R, Launiala K, Autio S, et al. Prevalence of the fragile X syndrome in four birth cohorts of children of school age. Hum Genet 1987;77:85-7.
-
(1987)
Hum Genet
, vol.77
, pp. 85-87
-
-
Kahkonen, M.1
Alitalo, T.2
Airaksinen, E.3
Matilainen, R.4
Launiala, K.5
Autio, S.6
-
61
-
-
0026525424
-
Population screening for fragile X
-
Turner G, Robinson H, Ling S, van der Berk M, Colley A, Goddard A, et al. Population screening for fragile X. Lancet 1992;339;1210-3.
-
(1992)
Lancet
, vol.339
, pp. 1210-1213
-
-
Turner, G.1
Robinson, H.2
Ling, S.3
Van Der Berk, M.4
Colley, A.5
Goddard, A.6
-
62
-
-
0020628743
-
A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome
-
Jacobs PA, Mayer M, Matsuura J, Rhoads F, Yee SC. A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome. Hum Genet. 1983;63:139-48.
-
(1983)
Hum Genet
, vol.63
, pp. 139-148
-
-
Jacobs, P.A.1
Mayer, M.2
Matsuura, J.3
Rhoads, F.4
Yee, S.C.5
-
63
-
-
0023759213
-
A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome
-
Li SY, Tsai CC, Chou MY, Lin JK. A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome. Hum Genet 1988;79:292-6.
-
(1988)
Hum Genet
, vol.79
, pp. 292-296
-
-
Li, S.Y.1
Tsai, C.C.2
Chou, M.Y.3
Lin, J.K.4
-
64
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, et al. Population studies of the fragile X: a molecular approach. J Med Genet 1993;30:454-9.
-
(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
-
65
-
-
0029996847
-
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families
-
Perroni L, Grasso M, Argusti A, Lo Nigro C, Croci GF, Zelante L, et al. Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families. Am J Med Genet 1996;64:176-80.
-
(1996)
Am J Med Genet
, vol.64
, pp. 176-180
-
-
Perroni, L.1
Grasso, M.2
Argusti, A.3
Lo Nigro, C.4
Croci, G.F.5
Zelante, L.6
-
66
-
-
0028201020
-
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for reversal of mutation in the FMR-1 gene
-
van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, et al. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for reversal of mutation in the FMR-1 gene Am J Med Genet 1994;51:482-5.
-
(1994)
Am J Med Genet
, vol.51
, pp. 482-485
-
-
Van Den Ouweland, A.M.1
De Vries, B.B.2
Bakker, P.L.3
Deelen, W.H.4
De Graaff, E.5
-
67
-
-
0028237298
-
Comparision between the Cytogenetic test for fragile X and the molecular analysis in Japanese mentally retarded individuals
-
Hofstee Y, Arinami T, Hamaguchi H. Comparision between the Cytogenetic test for fragile X and the molecular analysis in Japanese mentally retarded individuals Am J Med Genet. 1994:51;466-70.
-
(1994)
Am J Med Genet
, vol.51
, pp. 466-470
-
-
Hofstee, Y.1
Arinami, T.2
Hamaguchi, H.3
-
68
-
-
0028892002
-
Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
-
Nanba E, Kohno Y, Matsuda A, Yano M, Sato C, Hashimoto K, et al. Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males. Brain Devel 1995;17:317-21.
-
(1995)
Brain Devel
, vol.17
, pp. 317-321
-
-
Nanba, E.1
Kohno, Y.2
Matsuda, A.3
Yano, M.4
Sato, C.5
Hashimoto, K.6
-
69
-
-
0033612245
-
Trinucleotide CGG repeat in the FMRI gene in Chinese mentally retarded patients
-
Pang CP, Poon PM, Chen QL, Lai KY, Yin CH, Zhao Z, et al. Trinucleotide CGG repeat in the FMRI 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
-
70
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel JL, et al. Rapid antibody test for fragile X syndrome. Lancet 1995;345:1147-8.
-
(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
-
71
-
-
0027241248
-
Guidelines for the diagnosis of fragile X syndrome
-
National Fragile X Foundation
-
Oostra BA, Jacky PB, Brown WT, Rousseau F. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. J Med Genet 1993;30:410-3.
-
(1993)
J Med Genet
, vol.30
, pp. 410-413
-
-
Oostra, B.A.1
Jacky, P.B.2
Brown, W.T.3
Rousseau, F.4
-
72
-
-
84942947953
-
Advances in molecular analysis of fragile X syndrome
-
Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome. JAMA 1994;271:536-42.
-
(1994)
JAMA
, vol.271
, pp. 536-542
-
-
Warren, S.T.1
Nelson, D.L.2
-
73
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, Biancalana V, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-64.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck, G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
-
74
-
-
0028838290
-
Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counselors
-
McConkie-Rosell A, Robinson H, Wake S, Staley LW, Heller K, Cronister A. Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors Am J Med Genet 1995;59;426-30.
-
(1995)
Am J Med Genet
, vol.59
, pp. 426-430
-
-
McConkie-Rosell, A.1
Robinson, H.2
Wake, S.3
Staley, L.W.4
Heller, K.5
Cronister, A.6
-
75
-
-
2442724489
-
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
-
Ryynanen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 1999;7:212-6.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 212-216
-
-
Ryynanen, M.1
Heinonen, S.2
Makkonen, M.3
Kajanoja, E.4
Mannermaa, A.5
Pertti, K.6
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