-
1
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Published erratum appears in JAMA 271:28
-
Brown WT, Houck GE Jr, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC (1993) Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. (Published erratum appears in JAMA 271:28) JAMA 270:1569-1575
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr., G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
Henderson, J.8
Brooks, S.S.9
Jenkins, E.C.10
-
2
-
-
0028272481
-
A simple fragile X PCR assay with 7-deazaguanine-substituted DNA visualized by ethidium bromide
-
Cao J, Tarleton J, Barberio D, Davidow LS (1994) A simple fragile X PCR assay with 7-deazaguanine-substituted DNA visualized by ethidium bromide. Mol Cell Probes 8:177-180
-
(1994)
Mol Cell Probes
, vol.8
, pp. 177-180
-
-
Cao, J.1
Tarleton, J.2
Barberio, D.3
Davidow, L.S.4
-
3
-
-
0028340198
-
Unstable triplets and their mutational mechanism: Size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome
-
Chiurazzi P, Kozak L, Neri G (1994) Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome. Am J Med Genet 51:517-521
-
(1994)
Am J Med Genet
, vol.51
, pp. 517-521
-
-
Chiurazzi, P.1
Kozak, L.2
Neri, G.3
-
4
-
-
0028365522
-
Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
-
Chong SS, Eichler EE, Nelson DL, Hughes MR (1994) Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526
-
(1994)
Am J Med Genet
, vol.51
, pp. 522-526
-
-
Chong, S.S.1
Eichler, E.E.2
Nelson, D.L.3
Hughes, M.R.4
-
5
-
-
0028858268
-
Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
-
Dawson AJ, Chodirker BN, Chudley AE (1995) Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 56:63-69
-
(1995)
Biochem Mol Med
, vol.56
, pp. 63-69
-
-
Dawson, A.J.1
Chodirker, B.N.2
Chudley, A.E.3
-
6
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (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.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
7
-
-
0026793657
-
Polymerase chain reaction analysis of fragile X mutations
-
Erster SH, Brown WT, Goonewardena P, Dobkin CS, Jenkins EC, Pergolizzi RG (1992) Polymerase chain reaction analysis of fragile X mutations. Hum Genet 90:55-61
-
(1992)
Hum Genet
, vol.90
, pp. 55-61
-
-
Erster, S.H.1
Brown, W.T.2
Goonewardena, P.3
Dobkin, C.S.4
Jenkins, E.C.5
Pergolizzi, R.G.6
-
8
-
-
0028245473
-
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing
-
Fisch GS, Nelson DL, Snow K, Thibodeau SN, Chalifoux M, Holden JJ (1994) Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet 51:339-345
-
(1994)
Am J Med Genet
, vol.51
, pp. 339-345
-
-
Fisch, G.S.1
Nelson, D.L.2
Snow, K.3
Thibodeau, S.N.4
Chalifoux, M.5
Holden, J.J.6
-
9
-
-
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, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
-
(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 Jr., R.G.9
Warren, S.T.10
-
10
-
-
0029926866
-
A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
-
Haddad LA, Mingroni Netto RC, Vianna Morgante AM, Pena SD (1996) A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet 97:808-812
-
(1996)
Hum Genet
, vol.97
, pp. 808-812
-
-
Haddad, L.A.1
Mingroni Netto, R.C.2
Vianna Morgante, A.M.3
Pena, S.D.4
-
11
-
-
0029556239
-
Distribution and frequency of FMR1 CGG repeat number in the general population
-
Holden JA, Chalifoux M, Wing M, Julien-Inalsingh C, Lawson JS, Higgins JV, Sherman S, White BN (1996) Distribution and frequency of FMR1 CGG repeat number in the general population. Dev Brain Dysfunct 8:405-407
-
(1996)
Dev Brain Dysfunct
, vol.8
, pp. 405-407
-
-
Holden, J.A.1
Chalifoux, M.2
Wing, M.3
Julien-Inalsingh, C.4
Lawson, J.S.5
Higgins, J.V.6
Sherman, S.7
White, B.N.8
-
12
-
-
0028245479
-
Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
-
Levinson G, Maddalena A, Palmer FT, Harton GL, Bick DP, Howard Peebles PN, Black SH, Schulman JD (1994) Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 51:527-534
-
(1994)
Am J Med Genet
, vol.51
, pp. 527-534
-
-
Levinson, G.1
Maddalena, A.2
Palmer, F.T.3
Harton, G.L.4
Bick, D.P.5
Howard Peebles, P.N.6
Black, S.H.7
Schulman, J.D.8
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
14
-
-
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, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P (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
Latsky, L.4
Linehan, P.5
McKechnie, N.6
Macpherson, J.7
Pound, M.8
Jacobs, P.9
-
15
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
16
-
-
0027241248
-
Guidelines for the diagnosis of fragile X syndrome
-
National Fragile X Foundation
-
Oostra BA, Jacky PB, Brown WT, Rousseau F (1993) Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. J Med Genet 30:410-413
-
(1993)
J Med Genet
, vol.30
, pp. 410-413
-
-
Oostra, B.A.1
Jacky, P.B.2
Brown, W.T.3
Rousseau, F.4
-
17
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMRI gene - And implications for the population genetics of the fragile X syndrome (see comments)
-
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K (1995) Prevalence of carriers of premutation-size alleles of the FMRI gene - and implications for the population genetics of the fragile X syndrome (see comments). Am J Hum Genet 57:1006-1018
-
(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
-
18
-
-
0027525069
-
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
-
Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
Pergolizzi, R.G.4
Erster, S.H.5
Thibodeau, S.N.6
-
19
-
-
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, Reiner O, Richards S, Victoria MF, Zhang FP, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
-
(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
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.P.10
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