-
1
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
SOUTHERN E. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503-17.
-
(1975)
J Mol Biol
, vol.98
, pp. 503-517
-
-
Southern, E.1
-
2
-
-
0031025986
-
Fragile X syndrome is less common than previously estimated
-
MORTON J, BUNDEY S, WEBB T, MACDONALD F, RINDL PM, BULLOCK S. Fragile X syndrome is less common than previously estimated. J Med Genet 1997; 34: 1-5.
-
(1997)
J Med Genet
, vol.34
, pp. 1-5
-
-
Morton, J.1
Bundey, S.2
Webb, T.3
Macdonald, F.4
Rindl, P.M.5
Bullock, S.6
-
3
-
-
11644284672
-
Heritable fragile sites on human chromosomes. III. Detection of fra (X) (q 27) in males with X-linked mental retardation and their female relatives
-
SUTHERLAND GR. Heritable fragile sites on human chromosomes. III. Detection of fra (X) (q 27) in males with X-linked mental retardation and their female relatives. Am J Hum Genet 1979; 53: 22-7.
-
(1979)
Am J Hum Genet
, vol.53
, pp. 22-27
-
-
Sutherland, G.R.1
-
4
-
-
84865911008
-
A síndrome do cromossomo X frágil. Soc. Bras. Genét
-
MINGRONI-NETO R. A síndrome do cromossomo X frágil. Soc. Bras. Genét. Série Monografias 1995; 2: 47-109.
-
(1995)
Série Monografias
, vol.2
, pp. 47-109
-
-
Mingroni-Neto, R.1
-
5
-
-
0029816723
-
The fragile X mental retardation protein is a ribonucleoprotein containing nuclear localization and nuclear export signals
-
EBERHART D, MALTER H, FENG, Y, WARREN S. The fragile X mental retardation protein is a ribonucleoprotein containing nuclear localization and nuclear export signals. Hum Mol Genet 1996; 5: 1083-91.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1083-1091
-
-
Eberhart, D.1
Malter, H.2
Feng, Y.3
Warren, S.4
-
6
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
OBERLÉ I, ROSSEAU F, HEITZ D, KRETZ C, DEVYS D, HANAUER A ET AL. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rosseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
-
7
-
-
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 AJMH, PIEKETTI M, SUTCLIFFE JS, FU Y-H, KUHL DPA, 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.M.H.1
Pieketti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
-
8
-
-
0026347628
-
Fragile X genotypt characterized by an unstable region of DNA
-
YU S, PRITCHARD E, KREMER E, LYNCH M, NANCARROW J, BAKER E. Fragile X genotypt characterized by an unstable region of DNA. Science 1991; 252: 1179-81.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, E.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
-
9
-
-
0030013564
-
The Number of Repeats of the FMR1 Locus in Premutated and Fully Mutated Heterozygotes and Their Offspring: Implications for the Origin of Mosaicism
-
MINGRONI-NETTO R, HADDAD L, VIANNA-MORGANTE A. The Number of Repeats of the FMR1 Locus in Premutated and Fully Mutated Heterozygotes and Their Offspring: Implications for the Origin of Mosaicism Am J Med Genet 1996; 64: 270-3.
-
(1996)
Am J Med Genet
, vol.64
, pp. 270-273
-
-
Mingroni-Netto, R.1
Haddad, L.2
Vianna-Morgante, A.3
-
10
-
-
0030008960
-
Fragile X "Gray Zone" Alleles: AGG Paterns, Expansion Risks, and Associated Haplotypes
-
ZHONG N, JU W, PIETROFESA J, WANG D, DOBKIN C, BKOWN T. Fragile X "Gray Zone" Alleles: AGG Paterns, Expansion Risks, and Associated Haplotypes. Am J Med Genet 1996; 6-1: 261-5.
-
(1996)
Am J Med Genet
, vol.6
, Issue.1
, pp. 261-265
-
-
Zhong, N.1
Ju, W.2
Pietrofesa, J.3
Wang, D.4
Dobkin, C.5
Bkown, T.6
-
11
-
-
0032559245
-
Distribution of (CGG)n and FMR-1 Associated Microsatellites Alleles in a Normal Chilean Population
-
JARA L, ASPILLAGA M, AVENDAŃO I, OBREQUE V, BLANCO R, VALENZUELA CY. Distribution of (CGG)n and FMR-1 Associated Microsatellites Alleles in a Normal Chilean Population. Am J Med Genet 1998; 75: 277-82.
-
(1998)
Am J Med Genet
, vol.75
, pp. 277-282
-
-
Jara, L.1
Aspillaga, M.2
Avendańo, I.3
Obreque, V.4
Blanco, R.5
Valenzuela, C.Y.6
-
12
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
ROSSEAU F, HEITZ D, BIANCALANA V, BIUMENFELD S, KRETZ C, BOUÉ J ET AL. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991; 325: 1673-81.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rosseau, F.1
Heitz, D.2
Biancalana, V.3
Biumenfeld, S.4
Kretz, C.5
Boué, J.6
-
13
-
-
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
-
14
-
-
0027236971
-
Characterization and localization of the FMR1 gene product associated with fragile X syndrome
-
VERHEIJ C, BAKKER CE, DE GRAAFF E, WILLEMSEN R, WILLIAMS PJ, MEIJER N ET AL. Characterization and localization of the FMR1 gene product associated with fragile X syndrome. Nature 1993; 363: 722-4.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
De Graaff, E.3
Willemsen, R.4
Williams, P.J.5
Meijer, N.6
-
16
-
-
0027437296
-
Prenatal diagnosis of fragile X syndrome by detection of the dynamic mutation due to an unstable DNA sequence
-
YAMAUCHI M, NAGATA S, SEKI N, TOYAMA Y, HAKADA N, NUKAWA N ET AL. Prenatal diagnosis of fragile X syndrome by detection of the dynamic mutation due to an unstable DNA sequence. Clin Genet 1993; 44: 169-72.
-
(1993)
Clin Genet
, vol.44
, pp. 169-172
-
-
Yamauchi, M.1
Nagata, S.2
Seki, N.3
Toyama, Y.4
Hakada, N.5
Nukawa, N.6
-
17
-
-
0026689694
-
On some technical aspects of direct DNA diagnosis of the fragile X syndrome
-
ROUSSEAU F, HEITZ D, BIANCALANA V, OBERLÉ I, MANDEL JL. On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 1992; 43: 197-207.
-
(1992)
Am J Med Genet
, vol.43
, pp. 197-207
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Oberlé, I.4
Mandel, J.L.5
-
18
-
-
0031395376
-
Screening for fragile X syndrome: Information needs for health planners
-
MURRAY J, CUCKLE H, TAYLOR G, HEWISON J. Screening for fragile X syndrome: information needs for health planners. J Med Screening 1997; 4: 60-94.
-
(1997)
J Med Screening
, vol.4
, pp. 60-94
-
-
Murray, J.1
Cuckle, H.2
Taylor, G.3
Hewison, J.4
-
19
-
-
0026781016
-
A microdeletion of less than 250 Kpb, 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
-
WÖHRLE D, KOTZOT D, HIRST M, MANCA A, KORN B, SCHIMDT A ET AL. A microdeletion of less than 250 Kpb, 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
-
-
Wöhrle, D.1
Kotzot, D.2
Hirst, M.3
Manca, A.4
Korn, B.5
Schimdt, A.6
-
20
-
-
0020855541
-
Sindrome del X frágil: Discusión del primer caso confirmado citogenéticamente en Chile
-
LACASSIE Y, MORENO R, DE LA BARRA F, CUROTTO B, ALLIENDE MA, ANRÍQUEZ PE ET AL. Sindrome del X frágil: Discusión del primer caso confirmado citogenéticamente en Chile. Rev Chil Ped 1983; 54: 410-6.
-
(1983)
Rev Chil Ped
, vol.54
, pp. 410-416
-
-
Lacassie, Y.1
Moreno, R.2
De La Barra, F.3
Curotto, B.4
Alliende, M.A.5
Anríquez, P.E.6
-
21
-
-
0025782549
-
A 15 item check-list for screening mentally retarded males for the fragile X syndrome
-
BUTLER M, MANGRUM T, GUPTA R, SINGH D. A 15 item check-list for screening mentally retarded males for the fragile X syndrome. Clin Genet 1991; 39: 347-54.
-
(1991)
Clin Genet
, vol.39
, pp. 347-354
-
-
Butler, M.1
Mangrum, T.2
Gupta, R.3
Singh, D.4
-
22
-
-
0026008099
-
Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes
-
JACKY P, AHUJA Y, ANYANE-YEBOA K ET AL. Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am J Med Genet 1991; 38: 400-3.
-
(1991)
Am J Med Genet
, vol.38
, pp. 400-403
-
-
Jacky, P.1
Ahuja, Y.2
Anyane-Yeboa, K.3
-
23
-
-
0346586948
-
Citogenética clínica: Métodos de laboratorio
-
ALLIENDE MA Y CUROTTO B. Citogenética clínica: métodos de laboratorio. Rev Chil Ped 1993; 649: 9-12.
-
(1993)
Rev Chil Ped
, vol.649
, pp. 9-12
-
-
Alliende, M.A.1
Curotto, B.2
-
24
-
-
0025134016
-
DNA extraction from nucleated red blood cells
-
MEDRANO J, AASEN E, SHARROW L. DNA extraction from nucleated red blood cells. Biotechniques 1990; 8: 43.
-
(1990)
Biotechniques
, vol.8
, pp. 43
-
-
Medrano, J.1
Aasen, E.2
Sharrow, L.3
-
26
-
-
0020793569
-
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
FEINBERG A, VOGELSTEIN B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983; 132: 6-13.
-
(1983)
Anal Biochem
, vol.132
, pp. 6-13
-
-
Feinberg, A.1
Vogelstein, B.2
-
27
-
-
0019881401
-
Least squares fit of DNA fragment length to gel mobility
-
SCHAFFER H, SEDEROFF R. Least squares fit of DNA fragment length to gel mobility. Anal Biochem. 1981; 115: 113-22.
-
(1981)
Anal Biochem.
, vol.115
, pp. 113-122
-
-
Schaffer, H.1
Sederoff, R.2
-
28
-
-
0031971691
-
Unusual mutations in high funtioning fragile X males: Apparent instability of expanded unmethylated CGG repeats
-
WÖHRLE D, SALAT U, GLÄSER D, MÜCKE J, MEISEL-STOSIEK M, SCHINDLER D, ET AL. Unusual mutations in high funtioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J Med Genet 1998; 35: 103-11.
-
(1998)
J Med Genet
, vol.35
, pp. 103-111
-
-
Wöhrle, D.1
Salat, U.2
Gläser, D.3
Mücke, J.4
Meisel-Stosiek, M.5
Schindler, D.6
-
29
-
-
0018388575
-
Heritable fragile sites on human chromosomes I. Factors affecting expresion in lymphocyte culture
-
SUTHERLAND GR. Heritable fragile sites on human chromosomes I. Factors affecting expresion in lymphocyte culture. Am J Hum Genet 1979; 31: 125-35.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 125-135
-
-
Sutherland, G.R.1
-
30
-
-
16944362821
-
Clinical, cytogenetic, and molecular analysis of three families with FRAXE
-
BARNICOAT A, WANG Q, TURK J ET AL. Clinical, cytogenetic, and molecular analysis of three families with FRAXE. J Med Genet 1997; 34: 13-7.
-
(1997)
J Med Genet
, vol.34
, pp. 13-17
-
-
Barnicoat, A.1
Wang, Q.2
Turk, J.3
-
31
-
-
0026689695
-
Molecular Studies of the Fragile X Syndrome
-
KNIGHT S, HIRST M, ROCHE A, CHRISTODOULOU Z, HUSON S, WINTER R ET AL. Molecular Studies of the Fragile X Syndrome. Am J Meet Genet 1992; 43: 217-23.
-
(1992)
Am J Meet Genet
, vol.43
, pp. 217-223
-
-
Knight, S.1
Hirst, M.2
Roche, A.3
Christodoulou, Z.4
Huson, S.5
Winter, R.6
-
32
-
-
0025312219
-
Mental retardation in heterozygotes for the fragile X mutation evidence in favor of an X inactivation dependent effect
-
ROCCHI M, ARCHIDIACONO N, RINALDI A, FILIPPI G, BARTOLUCCI G, FANCELLO GS ET AL. Mental retardation in heterozygotes for the fragile X mutation evidence in favor of an X inactivation dependent effect. Am J Hum Genet 1990; 46: 738-43.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 738-743
-
-
Rocchi, M.1
Archidiacono, N.2
Rinaldi, A.3
Filippi, G.4
Bartolucci, G.5
Fancello, G.S.6
-
33
-
-
0028788183
-
X inactivation in the FMR-1 fragile X mental retardation gene
-
KIRCHGESSNER W, WARREN ST AND WIELAND HF. X inactivation in the FMR-1 fragile X mental retardation gene. J Med Genet 1995; 32: 925-9.
-
(1995)
J Med Genet
, vol.32
, pp. 925-929
-
-
Kirchgessner, W.1
Warren, S.T.2
Wieland, H.F.3
-
34
-
-
17544386437
-
Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique
-
WILLEMSEN R, SMITS A, MOHKAMSING S, VAN BEERENDONK H, DE HAAN A, DE VRIES B ET AL. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet 1997; 99: 3: 308-11.
-
(1997)
Hum Genet
, vol.99
, Issue.3
, pp. 308-311
-
-
Willemsen, R.1
Smits, A.2
Mohkamsing, S.3
Van Beerendonk, H.4
De Haan, A.5
De Vries, B.6
-
35
-
-
0030463374
-
Routine Clinical application of the FRAXA Pfu PCR assay: Limits and utility
-
CONDORELLI DF, MILANA G, DELL'ALBANI P, ROCCAZELLO AM, INSIKFLLO E, PAVONE L, MOLLICA F. Routine Clinical application of the FRAXA Pfu PCR assay: limits and utility. Clin Genet 1996; 50: 366-71.
-
(1996)
Clin Genet
, vol.50
, pp. 366-371
-
-
Condorelli, D.F.1
Milana, G.2
Dell'albani, P.3
Roccazello, A.M.4
Insikfllo, E.5
Pavone, L.6
Mollica, F.7
-
36
-
-
0029926866
-
A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
-
HADDAD L, MINGRONI-NETTO R, VIANNA-MORGANTE AM, PENA S. A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet 1996; 97: 808-12.
-
(1996)
Hum Genet
, vol.97
, pp. 808-812
-
-
Haddad, L.1
Mingroni-Netto, R.2
Vianna-Morgante, A.M.3
Pena, S.4
-
37
-
-
0030711686
-
Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children
-
GERARD B, LE HEUZEY MF, BRUNIE G, LEWINE P, SAIAG MC, CACHEUX V ET AL. Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children. Ann Génét 1997; 40: 139-40.
-
(1997)
Ann Génét
, vol.40
, pp. 139-140
-
-
Gerard, B.1
Le Heuzey, M.F.2
Brunie, G.3
Lewine, P.4
Saiag, M.C.5
Cacheux, V.6
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