-
1
-
-
0027500851
-
Data on the CGG repeat at the fragile X site in the non retarded Japanese population and family suggest the presence of subgroup of normal alleles predisposing to mutate
-
Arinami, T., Asano, M., Kobayashi, K. et al. (1903). Data on the CGG repeat at the fragile X site in the non retarded Japanese population and family suggest the presence of subgroup of normal alleles predisposing to mutate. Hum. Genet. 92, 431-436.
-
(1903)
Hum. Genet.
, vol.92
, pp. 431-436
-
-
Arinami, T.1
Asano, M.2
Kobayashi, K.3
-
3
-
-
0030735130
-
Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles
-
Brown, T. C., Tarleton, J. C., Go, R. C. P. et al. (1997). Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. Am. J. Med. Genet. 73, 447-455.
-
(1997)
Am. J. Med. Genet.
, vol.73
, pp. 447-455
-
-
Brown, T.C.1
Tarleton, J.C.2
Go, R.C.P.3
-
5
-
-
0033069502
-
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse. Special education-needs population
-
Crawford, D. C., Meadows, K. L., Newman J. L. et al. (1999). Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse. special education-needs population. Am. J. Hum. Genet. 64, 495-507.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 495-507
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
-
6
-
-
0034703871
-
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCK
-
Crawford, D. C. Wilson B. & Sherman S. L. (2000). Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCK. Hum. Mol. Genet. 9, 2909-2918.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2909-2918
-
-
Crawford, D.C.1
Wilson, B.2
Sherman, S.L.3
-
7
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler, E. E., Holden, J. J. A., Popovich, B. W. et al. (1994). Length of uninterrupted CGG repeats determines instability 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
-
8
-
-
0028886722
-
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
-
Eichler, E. E., Hammond, H. A., Macpherson, J. N. et al. (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
-
9
-
-
0033515501
-
Molecular screening for fragile-X syndrome in Indonesian children with developmental disability
-
Faradz, S. M. H., Lam-Po-Tang, P. R. L., Leigh, D. et al. (1998). Molecular screening for fragile-X syndrome in Indonesian children with developmental disability. Am J Med Genet 83, 350-351.
-
(1998)
Am J Med Genet
, vol.83
, pp. 350-351
-
-
Faradz, S.M.H.1
Lam-Po-Tang, P.R.L.2
Leigh, D.3
-
10
-
-
0033786969
-
Genetic diversity at the FMR1 locus in the Indonesian populations
-
Faradz S. M. H., Pattiha M. Z., Leigh D. A. et al. (2000). Genetic diversity at the FMR1 locus in the Indonesian populations. Ann. Hum. Genet. 64, 329-339.
-
(2000)
Ann. Hum. Genet.
, vol.64
, pp. 329-339
-
-
Faradz, S.M.H.1
Pattiha, M.Z.2
Leigh, D.A.3
-
11
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, J. H., Kuhl, D. P., Pizzuti, A. et. al. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67. 1047-58.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, J.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
13
-
-
0027968066
-
Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic. And molecular data
-
Hamel, B. C. J., Smits, A. P. T., de Graaff, E. et al. (1994). Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic. and molecular data. Am. J. Hum. Genet. 55, 923-931.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 923-931
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
De Graaff, E.3
-
15
-
-
0029931538
-
A rapid, reliable and inexpensive method for detection of di-and trinucletide repeat marker and disease loci from dried blood spots
-
Holden, J. J. A., Chalifoux, M., Wing, M. et al. (1996a). A rapid, reliable and inexpensive method for detection of di-and trinucletide repeat marker and disease loci from dried blood spots. Am. J. Hum. Genet. 64, 313-318.
-
(1996)
Am. J. Hum. Genet.
, vol.64
, pp. 313-318
-
-
Holden, J.J.A.1
Chalifoux, M.2
Wing, M.3
-
16
-
-
0029945363
-
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities
-
Holden, J. J. A., Julien-Inalsingh, C., Chalifoux, M. et al. (1996b). Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Am. J. Med. Genet. 64, 420-424.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 420-424
-
-
Holden, J.J.A.1
Julien-Inalsingh, C.2
Chalifoux, M.3
-
17
-
-
0027991895
-
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
-
Knight, S. J. L., Voelckel, M. A., Hirst, M. C. et al. (1994). Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap, Am. J. Hum. Genet. 55. 81-86.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 81-86
-
-
Knight, S.J.L.1
Voelckel, M.A.2
Hirst, M.C.3
-
18
-
-
0009472824
-
The fragile X syndrome and other fragile site disorders
-
(ed Oostra B. A.). Berlin, Heidelberg. New York: Springer-Verlag
-
Kooy, R. F., Oostra, B. A. & Willems, P. J. (1988). The fragile X syndrome and other fragile site disorders. In: Trinucleotide diseases and instability (ed Oostra B. A.). Berlin, Heidelberg. New York: Springer-Verlag.
-
(1988)
Trinucleotide Diseases and Instability
-
-
Kooy, R.F.1
Oostra, B.A.2
Willems, P.J.3
-
19
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could results in predisposing normal alleles
-
Kunst, C. B. & Warren, S. T. (1994). Cryptic and polar variation of the fragile X repeat could results in predisposing normal alleles. Cell 77, 853-861.
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
20
-
-
19144367229
-
FMR-1 in global population
-
Kunst, C. B., Zerylnick, C., Karickhoff, L. et al. (1996). FMR-1 in global population. Am. J. Hum. Genet. 58, 513-22.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 513-522
-
-
Kunst, C.B.1
Zerylnick, C.2
Karickhoff, L.3
-
21
-
-
0033612333
-
Improved amplification of the FMR2 GCC-repeat from dried blood spots
-
Leggo, J. & Holden, J. J. A. (1999). Improved amplification of the FMR2 GCC-repeat from dried blood spots. Am. J. Med. Genet. 84, 304-305.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 304-305
-
-
Leggo, J.1
Holden, J.J.A.2
-
22
-
-
0029955568
-
Survey of the fragile-X syndrome and the fragile X E syndrome in a special education needs population
-
Meadows, K. L., Pettay, D., Newman, J. et al. (1996). Survey of the fragile-X syndrome and the fragile X E syndrome in a special education needs population. Am. J. Med. Genet. 64, 428-433.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 428-433
-
-
Meadows, K.L.1
Pettay, D.2
Newman, J.3
-
23
-
-
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. 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, 727-735.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 727-735
-
-
Murray, A.1
Youings, S.2
Dennis, N.3
-
24
-
-
8044254656
-
The role of size, sequence and haplotype in the stability of KRAXA and FRAXE alleles during transmission
-
Murray, A., Macpherson, J. N., Pound, M. C. et al. (1997). The role of size, sequence and haplotype in the stability of KRAXA and FRAXE alleles during transmission. Hum. Mol. Genet. 6, 173-84.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 173-184
-
-
Murray, A.1
Macpherson, J.N.2
Pound, M.C.3
-
25
-
-
25544441022
-
Dynamic mutation of the FRAXE trinucleotide repeat
-
Murray, A., Shipley, E. L., Pound, M. C. et al. (1998). Dynamic mutation of the FRAXE trinucleotide repeat. Am. J. Hum. Genet. 63, suppl: A336.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.SUPPL.
-
-
Murray, A.1
Shipley, E.L.2
Pound, M.C.3
-
26
-
-
0033612137
-
Molecular screening of Fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation and stability
-
Patsalis, P. C., Sismani, C., Hettinger, J. A. et al. (1999a). Molecular screening of Fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation and stability. Am. J. Med. Genet. 84, 184-190.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 184-190
-
-
Patsalis, P.C.1
Sismani, C.2
Hettinger, J.A.3
-
27
-
-
0033612237
-
The frequencies of 'gray-zone' and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada
-
Patsalis, P. C., Sismani, C., Hettinger, J. A. et al. (1999b). The frequencies of 'gray-zone' and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am. J. Med. Genet. 84, 195-197.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 195-197
-
-
Patsalis, P.C.1
Sismani, C.2
Hettinger, J.A.3
-
28
-
-
0028246324
-
Haplotype analysis at the FRAXA locus in the Japanese population
-
Richards, R. I., Kondo, I., Holman, K. 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
Holman, K.3
-
29
-
-
10544236904
-
Dynamic mutation loci: Allele distributions in different populations
-
Richards, R. I., Crawford, J., Narahara, K. et al. (1996). Dynamic mutation loci: allele distributions in different populations. Ann. Hum. Genet. 60, 391-400.
-
(1996)
Ann. Hum. Genet.
, vol.60
, pp. 391-400
-
-
Richards, R.I.1
Crawford, J.2
Narahara, K.3
-
30
-
-
0026865445
-
Characterization of a new fragile site easily confused with the fragile X
-
Sutherland, G. R. & Baker, E. (1992). Characterization of a new fragile site easily confused with the fragile X. Hum. Mol. Genet. 1, 111-113.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 111-113
-
-
Sutherland, G.R.1
Baker, E.2
-
31
-
-
0034081385
-
Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan
-
Tzeng C. C., Tzeng P. Y., Sun H. S. et el. (2000). Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. Diagn. Mol. Pathol. 9, 75-80.
-
(2000)
Diagn. Mol. Pathol.
, vol.9
, pp. 75-80
-
-
Tzeng, C.C.1
Tzeng, P.Y.2
Sun, H.S.3
-
32
-
-
0033762701
-
Y chromosome sequence variation and the history of human populations
-
Underhill P. A., Shen P., Lin A. A et al. (2000). Y chromosome sequence variation and the history of human populations. Nature Genet. 26, 358-361.
-
(2000)
Nature Genet.
, vol.26
, pp. 358-361
-
-
Underhill, P.A.1
Shen, P.2
Lin, A.A.3
-
33
-
-
0034130169
-
FRAXA and FRAXE: The results of a five year survey
-
Youings S. A., Murray A., Dennis N., et al. (2000). FRAXA and FRAXE: The results of a five year survey. J. Med. Genet. 37, 415-421.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 415-421
-
-
Youings, S.A.1
Murray, A.2
Dennis, N.3
-
34
-
-
0028234808
-
Distribution of FMR1 and associated microsatellite alleles in a normal Chinese population
-
Zhong, N., Liu, X., Gou, S. et al. (1994). Distribution of FMR1 and associated microsatellite alleles in a normal Chinese population. Am. J. Med. Genet. 51, 417-422.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 417-422
-
-
Zhong, N.1
Liu, X.2
Gou, S.3
-
35
-
-
0029984116
-
A survey of FRAXE allele sizes in three populations
-
Zhong, N., Ju, W., Curley, D. et al. (1990). A survey of FRAXE allele sizes in three populations. Am. J. Med. Genet. 64, 415-419.
-
(1990)
Am. J. Med. Genet.
, vol.64
, pp. 415-419
-
-
Zhong, N.1
Ju, W.2
Curley, D.3
|