-
2
-
-
0029996849
-
Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity
-
Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G. 1996. Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity. Am J Med Genet 64:209-216.
-
(1996)
Am J Med Genet
, vol.64
, pp. 209-216
-
-
Chiurazzi, P.1
Genuardi, M.2
Kozak, L.3
Giovannucci-Uzielli, M.L.4
Bussani, C.5
Dagna-Bricarelli, F.6
Grasso, M.7
Perroni, L.8
Sebastio, G.9
Sperandeo, M.P.10
Oostra, B.A.11
Neri, G.12
-
3
-
-
0033942734
-
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
-
Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, Carpenter NJ, Howard-Peebles PN, Monaghan KG, Nolin SL, Reiss AL, Feldman GL, Rohlfs EM, Warren ST, Sherman SL. 2000a. Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet 66:480-493.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 480-493
-
-
Crawford, D.C.1
Schwartz, C.E.2
Meadows, K.L.3
Newman, J.L.4
Taft, L.F.5
Gunter, C.6
Brown, W.T.7
Carpenter, N.J.8
Howard-Peebles, P.N.9
Monaghan, K.G.10
Nolin, S.L.11
Reiss, A.L.12
Feldman, G.L.13
Rohlfs, E.M.14
Warren, S.T.15
Sherman, S.L.16
-
4
-
-
0033854462
-
Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability
-
Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL. 2000b. Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability. Hum Mol Genet 9:1759-1769.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1759-1769
-
-
Crawford, D.C.1
Zhang, F.2
Wilson, B.3
Warren, S.T.4
Sherman, S.L.5
-
5
-
-
0029916569
-
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin on the fragile X syndrome
-
Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. 1996. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin on the fragile X syndrome. Hum Mol Genet 5:319-330.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 319-330
-
-
Eichler, E.E.1
Macpherson, J.N.2
Murray, A.3
Jacobs, P.A.4
Chakravarti, A.5
Nelson, D.L.6
-
6
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman Paradox
-
Fu Y-K, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richard S, Verkerk AJMH, Holden JJA, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman Paradox. Cell 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-K.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richard, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick Jr., R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
7
-
-
0027279817
-
Origins of the fragile X syndrome mutation
-
Hirst MC, Knight SJ, Christodoulou Z, Grewal PK, Fryns JP, Davies KE. 1993. Origins of the fragile X syndrome mutation. J Med Genet 30:647-650.
-
(1993)
J Med Genet
, vol.30
, pp. 647-650
-
-
Hirst, M.C.1
Knight, S.J.2
Christodoulou, Z.3
Grewal, P.K.4
Fryns, J.P.5
Davies, K.E.6
-
8
-
-
0032559245
-
Distribution of (CGG)n repeats and FMR1 associated microsatellite alleles in a normal Chilean population
-
Jara L, Aspillaga M, Avendaño I, Obreque V, Blanco R, Valenzuela CY. 1998. Distribution of (CGG)n repeats and FMR1 associated microsatellite alleles in a normal Chilean population. Am J Med Genet 75:277-282.
-
(1998)
Am J Med Genet
, vol.75
, pp. 277-282
-
-
Jara, L.1
Aspillaga, M.2
Avendaño, I.3
Obreque, V.4
Blanco, R.5
Valenzuela, C.Y.6
-
9
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst CB, Warren ST. 1994. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861.
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
10
-
-
0034741185
-
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: Traces of genetic relationship with Asia
-
Larsen LA, Vuust J, Nystad M, Evseeva I, Van Ghelue M, Tranebjaerg L. 2001. Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: Traces of genetic relationship with Asia. Eur J Hum Genet 9:724-727.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 724-727
-
-
Larsen, L.A.1
Vuust, J.2
Nystad, M.3
Evseeva, I.4
Van Ghelue, M.5
Tranebjaerg, L.6
-
11
-
-
0035931390
-
Haplotype analysis at the FRAXA locus in Thai subjects
-
Limprasert P, Saechan V, Ruangdaraganon N, Sura T, Vasiknanote P, Jaruratanasirikul S, Brown WT. 2001. Haplotype analysis at the FRAXA locus in Thai subjects. Am J Med Genet 98:224-229.
-
(2001)
Am J Med Genet
, vol.98
, pp. 224-229
-
-
Limprasert, P.1
Saechan, V.2
Ruangdaraganon, N.3
Sura, T.4
Vasiknanote, P.5
Jaruratanasirikul, S.6
Brown, W.T.7
-
13
-
-
4243274251
-
Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations
-
Mingroni-Netto RC, Angeli CB, Auricchio MT, Leal-Mesquita ER, Ribeiro-dos-Santos AK, Ferrari I, Hutz MH, Salzano FM, Hill K, Hurtado AM, Vianna-Morgante AM. 2002. Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations. Am J Med Genet 111:243-252.
-
(2002)
Am J Med Genet
, vol.111
, pp. 243-252
-
-
Mingroni-Netto, R.C.1
Angeli, C.B.2
Auricchio, M.T.3
Leal-Mesquita, E.R.4
Ribeiro-dos-Santos, A.K.5
Ferrari, I.6
Hutz, M.H.7
Salzano, F.M.8
Hill, K.9
Hurtado, A.M.10
Vianna-Morgante, A.M.11
-
14
-
-
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 PC, Sismani C, Hettinger JA, Boumba I, Georgiou I, Stylianidou G, Anastasiadou V, Koukoulli R, Pagoulatos G, Syrrou M. 1999. 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
Boumba, I.4
Georgiou, I.5
Stylianidou, G.6
Anastasiadou, V.7
Koukoulli, R.8
Pagoulatos, G.9
Syrrou, M.10
-
15
-
-
0031734362
-
Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: Evidence for a "protector" haplotype
-
Peixoto A, Santos MR, Seruca R, Amorim A, Castedo S. 1998. Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: Evidence for a "protector" haplotype. Eur J Hum Genet 6:518-522.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 518-522
-
-
Peixoto, A.1
Santos, M.R.2
Seruca, R.3
Amorim, A.4
Castedo, S.5
-
16
-
-
0033612335
-
Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic
-
Pekarík V, Blazková M, Kozák L. 1999. Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic. Am J Med Genet 84:214-216.
-
(1999)
Am J Med Genet
, vol.84
, pp. 214-216
-
-
Pekarík, V.1
Blazková, M.2
Kozák, L.3
-
17
-
-
0033612132
-
FRAXAC1 and DXS548 polymorphisms in the Chinese population
-
Poon PM, Pang CP, Chen QL, Zhong N, Lai KY, Lau CH, Wong CK, Brown WT. 1999. FRAXAC1 and DXS548 polymorphisms in the Chinese population. Am J Med Genet 84:208-213.
-
(1999)
Am J Med Genet
, vol.84
, pp. 208-213
-
-
Poon, P.M.1
Pang, C.P.2
Chen, Q.L.3
Zhong, N.4
Lai, K.Y.5
Lau, C.H.6
Wong, C.K.7
Brown, W.T.8
-
18
-
-
0036091566
-
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range
-
Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL. 2002. Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet 70:1532-1544.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1532-1544
-
-
Sullivan, A.K.1
Crawford, D.C.2
Scott, E.H.3
Leslie, M.L.4
Sherman, S.L.5
|