-
1
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study- preliminary data
-
Allingham-Hawkins, D.J., Babul-Hirji, R., Chitayat, D., Holden, J.J., Yang, K.T., Lee, C., Hudson, R., Gorwill, H., Nolin, S.L., Glicksman, A., Jenkins, E.C., Brown, W.T., Howard-Peebles, P.N., Becchi, C., Cummings, E., Fallon, L., Seitz, S., Black, S.H., Vianna-Morgante, A.M., Costa, S.S., Otto, P.A., Mingroni-Netto, R.C., Murray, A., Webb, J., MacSwinney, F., Dennis, N., Jacobs, P.A., Syrrou, M., Georgiou, I., Patsalis, P.C., Giovannucci Uzielli, M.L., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., and Vieri, F. 1999. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study- preliminary data. Am. J. Med. Genet. 83:322-325.
-
(1999)
Am. J. Med. Genet.
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
Holden, J.J.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
Gorwill, H.8
Nolin, S.L.9
Glicksman, A.10
Jenkins, E.C.11
Brown, W.T.12
Howard-Peebles, P.N.13
Becchi, C.14
Cummings, E.15
Fallon, L.16
Seitz, S.17
Black, S.H.18
Vianna-Morgante, A.M.19
Costa, S.S.20
Otto, P.A.21
Mingroni-Netto, R.C.22
Murray, A.23
Webb, J.24
MacSwinney, F.25
Dennis, N.26
Jacobs, P.A.27
Syrrou, M.28
Georgiou, I.29
Patsalis, P.C.30
Giovannucci Uzielli, M.L.31
Guarducci, S.32
Lapi, E.33
Cecconi, A.34
Ricci, U.35
Ricotti, G.36
Biondi, C.37
Scarselli, B.38
Vieri, F.39
more..
-
2
-
-
0000556751
-
Southern blotting
-
Brown, T. 1999. Southern blotting. Curr. Protoc. Mol. Biol. 68:2.9.1-2.9.20.
-
(1999)
Curr. Protoc. Mol. Biol.
, vol.68
, pp. 291-2920
-
-
Brown, T.1
-
3
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown, W.T., Houck, G.E. Jr., Jeziorowska, A., Levinson, F.N., Ding, X., Dobkin, C., Zhong, N., Henderson, J., Brooks, S., and Jenkins, E.C. 1993. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. J. Am. Med. Assoc. 270:1569-1575.
-
(1993)
J. Am. Med. Assoc.
, 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.9
Jenkins, E.C.10
-
4
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
Crawford, D.C., Acuña, J.M., and Sherman, S.L. 2001. FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet. Med. 3:359-371.
-
(2001)
Genet. Med.
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuña, J.M.2
Sherman, S.L.3
-
5
-
-
37549021606
-
The unique alteration of electrophoretic mobility of fragile-X-expanded fragments in the presence of ethidium bromide
-
May 14, 1997
-
Cummins, J.H. 1997. The unique alteration of electrophoretic mobility of fragile-X-expanded fragments in the presence of ethidium bromide. Elsevier Trends Journals Technical Tips Online T01054, May 14, 1997.
-
(1997)
Elsevier Trends Journals Technical Tips Online T01054
-
-
Cummins, J.H.1
-
6
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, R., Verkerk, A., Holden, J.J.A., Fenwick, R.G. Jr., Warren, S.T., Oostra, B.A., Nelson, D.L., and Caskey, C.T. 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.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, R.6
Verkerk, A.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
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., and Hagerman, P.J. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
8
-
-
0036591556
-
Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes
-
Houdayer, C., Lourdaux, J., Billette de Villemeur, T., Royer-Legrain, G., Bahuau, M., Bonnefont, J.P., Feldman, D., and Courderc, R. 2002. Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes. Genet. Test. 6:135-139.
-
(2002)
Genet. Test.
, vol.6
, pp. 135-139
-
-
Houdayer, C.1
Lourdaux, J.2
Billette De Villemeur, T.3
Royer-Legrain, G.4
Bahuau, M.5
Bonnefont, J.P.6
Feldman, D.7
Courderc, R.8
-
9
-
-
7144230803
-
Enzymatic amplification of DNA by PCR: Standard procedures and optimization
-
Kramer, M.F. and Coen, D.M. 2001. Enzymatic amplification of DNA by PCR: Standard procedures and optimization. Curr. Protoc. Mol. Biol. 56:15.1.1-15.1.14.
-
(2001)
Curr. Protoc. Mol. Biol.
, vol.56
, pp. 1511-15114
-
-
Kramer, M.F.1
Coen, D.M.2
-
10
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
Nolin, S.L., Lewis, F.A., Ye, L.L., Houck, G.E. Jr., Glicksman, A.E., Limprasert, P., Li, S.Y., Zhong, N., Ashley, A.E., Feingold, E., Sherman, S.L., and Brown, W.T. 1996. Familial transmission of the FMR1 CGG repeat. Am. J. Hum. Genet. 59:1252-1261.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis, F.A.2
Ye, L.L.3
Houck Jr., G.E.4
Glicksman, A.E.5
Limprasert, P.6
Li, S.Y.7
Zhong, N.8
Ashley, A.E.9
Feingold, E.10
Sherman, S.L.11
Brown, W.T.12
-
11
-
-
0037320928
-
Expansion of the fragileXCGGrepeat in femaleswith premutation or intermediate alleles
-
Nolin, S.L., Brown, W.T., Glicksman, A., Houck, G.E. Jr., Gargano, A.D., Sullivan, A., Biancalana,V., Brondum-Nielsen, K.,Hjalgrim, H., Holinski-Feder, E., Kooy, F., Longshore, J., Macpherson, J., Mandel, J.L., von Koskull, H., and Sherman, S.L. 2003. Expansion of the fragileXCGGrepeat in femaleswith premutation or intermediate alleles. Am. J.Hum. Genet. 72:454-464.
-
(2003)
Am. J.Hum. Genet.
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr., G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
MacPherson, J.13
Mandel, J.L.14
Von Koskull, H.15
Sherman, S.L.16
-
12
-
-
0031927772
-
Mosaicism for full mutation and normal sized allele of the FMR1 gene: A new case report
-
Orrico, A., Galli, L., Plewnia, K., Dotti, M.T., Censini, S., and Federico, A. 1998. Mosaicism for full mutation and normal sized allele of the FMR1 gene: A new case report. Am. J. Med. Genet. 78:431-434.
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 431-434
-
-
Orrico, A.1
Galli, L.2
Plewnia, K.3
Dotti, M.T.4
Censini, S.5
Federico, A.6
-
13
-
-
0026586425
-
Detection of full fragile X mutations by polymerase chain reaction
-
Pergolizzi, R.G., Erster, S.H., Goonewardena, P., and Brown, W.T. 1992. Detection of full fragile X mutations by polymerase chain reaction. Lancet 339:271-272.
-
(1992)
Lancet
, vol.339
, pp. 271-272
-
-
Pergolizzi, R.G.1
Erster, S.H.2
Goonewardena, P.3
Brown, W.T.4
-
14
-
-
75749121629
-
Chemiluminescent detection of nonisotopic probes
-
Perry-O'Keefe, H. and Kissinger, C.M. 1994. Chemiluminescent detection of nonisotopic probes. Curr. Protoc. Mol. Biol. 26:3.19.1-3.19.8.
-
(1994)
Curr. Protoc. Mol. Biol.
, vol.26
, pp. 3191-3198
-
-
Perry-O'keefe, H.1
Kissinger, C.M.2
-
15
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Bou, J., Tommerup, N., Van Der Hagen, C., DeLozier-Blanchet, C., Croquette, M.-F., Gilgenkrantz, S., Jalbert, P., Voelckel, M.-A., Oberl, I., and Mandel, J.-L. 1991. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Engl. J. Med. 325:1673-1681.
-
(1991)
New Engl. J. Med.
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Bou, J.6
Tommerup, N.7
Van Der Hagen, C.8
Delozier-Blanchet, C.9
Croquette, M.-F.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelckel, M.-A.13
Oberl, I.14
Mandel, J.-L.15
-
16
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
Sherman, S., Pletcher, B.A., and Driscoll, D.A. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet. Med. 7:584-587.
-
(2005)
Genet. Med.
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
18
-
-
0025905795
-
Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F., Eussen, B.E., van Ommen, G.J.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A., andWarren, S.T. 1991. Identification of a gene (FMR1) 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.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
Van Ommen, G.J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
|