-
1
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., & Belmont, J. W. (1992). Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics, 51, 1229-1239.
-
(1992)
American Journal of Human Genetics
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
0029051456
-
X-chromosome methylation in manifesting and healthy carries of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
-
Azofeifa, J., Voit, T., Hubner, C., & Cremer, M. (1995). X-chromosome methylation in manifesting and healthy carries of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Human Genetics, 96, 167-176.
-
(1995)
Human Genetics
, vol.96
, pp. 167-176
-
-
Azofeifa, J.1
Voit, T.2
Hubner, C.3
Cremer, M.4
-
3
-
-
0030952221
-
Expression of genes from the human active and inactive X chromosomes
-
Brown, C. J., Carrel, L., & Willard, H. F. (1997). Expression of genes from the human active and inactive X chromosomes. American Journal of Human Genetics, 60, 1333-1343.
-
(1997)
American Journal of Human Genetics
, vol.60
, pp. 1333-1343
-
-
Brown, C.J.1
Carrel, L.2
Willard, H.F.3
-
4
-
-
0026456701
-
The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
-
Brown, C. J., Hendrich, B. D., Rupertt, J. L., Lafreniere, R. G., Xing, Y., Lawrence, J., & Willard, H. F. (1992). The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
-
(1992)
Cell
, vol.71
, pp. 527-542
-
-
Brown, C.J.1
Hendrich, B.D.2
Rupertt, J.L.3
Lafreniere, R.G.4
Xing, Y.5
Lawrence, J.6
Willard, H.F.7
-
5
-
-
0026007719
-
Localization of the X inactivation center on the human X chromosome in Xq13
-
Brown, C. J., Lafreniere, R. G., Powers, V. E., Sebastio, G., & Ballabio, A. (1991). Localization of the X inactivation center on the human X chromosome in Xq13. Nature, 349, 82-84.
-
(1991)
Nature
, vol.349
, pp. 82-84
-
-
Brown, C.J.1
Lafreniere, R.G.2
Powers, V.E.3
Sebastio, G.4
Ballabio, A.5
-
6
-
-
0033435207
-
A first-generation X-inactivation profile of the human X chromosome
-
Carrel, L., Cottle, A. A., Goglin, K. C., & Willard, H. F. (1999). A first-generation X-inactivation profile of the human X chromosome. Proceedings of the National Academy of Sciences USA, 7, 14440-14444.
-
(1999)
Proceedings of the National Academy of Sciences USA
, vol.7
, pp. 14440-14444
-
-
Carrel, L.1
Cottle, A.A.2
Goglin, K.C.3
Willard, H.F.4
-
7
-
-
0031035442
-
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
-
Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., vanvan Geet, C., Degreef, H., Cassiman, J. J., & Fryns, J. P. (1997). Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. American Journal of Human Genetics, 60, 581-587.
-
(1997)
American Journal of Human Genetics
, vol.60
, pp. 581-587
-
-
Devriendt, K.1
Matthijs, G.2
Legius, E.3
Schollen, E.4
Blockmans, D.5
Vanvan Geet, C.6
Degreef, H.7
Cassiman, J.J.8
Fryns, J.P.9
-
8
-
-
0026788532
-
X inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X linked lymphoproliferative disease
-
Harris, A., Collins, J., Vetrie, D., Cole, C., & Bobrow, M. (1992). X inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. Journal of Medical Genetics, 29, 608-614.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 608-614
-
-
Harris, A.1
Collins, J.2
Vetrie, D.3
Cole, C.4
Bobrow, M.5
-
9
-
-
0030795260
-
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene
-
Ishikawa-Brush, Y., Powell, J. F., Bolton, P., Miller, A. P., Francis, F., Willard, H. F., Lehrach, H., & Monaco, A. P. (1997). Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Human Molecular Genetics, 6, 1241-1250.
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 1241-1250
-
-
Ishikawa-Brush, Y.1
Powell, J.F.2
Bolton, P.3
Miller, A.P.4
Francis, F.5
Willard, H.F.6
Lehrach, H.7
Monaco, A.P.8
-
10
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Paris Autism Research International Sibpair Study
-
Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., & Bourgeron, T. (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Paris Autism Research International Sibpair Study. Nature Genetics, 34, 27-29.
-
(2003)
Nature Genetics
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
Bourgeron, T.11
-
11
-
-
0035491511
-
Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay
-
Karasawa, M., Tsukamoto, N., Yamane, A., Okamoto, K., Maehara, T., Yokohama, A., Nojima, Y., & Omine, M. (2001). Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay. International Journal of Hematology, 74, 281-286.
-
(2001)
International Journal of Hematology
, vol.74
, pp. 281-286
-
-
Karasawa, M.1
Tsukamoto, N.2
Yamane, A.3
Okamoto, K.4
Maehara, T.5
Yokohama, A.6
Nojima, Y.7
Omine, M.8
-
12
-
-
0031458796
-
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
-
Lau, A. W., Brown, C. J., Penaherrera, M., Langlois, S., Kalousek, D. K., & Robinson, W. P. (1997). Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. American Journal of Human Genetics, 61, 1353-1361.
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 1353-1361
-
-
Lau, A.W.1
Brown, C.J.2
Penaherrera, M.3
Langlois, S.4
Kalousek, D.K.5
Robinson, W.P.6
-
13
-
-
0027997172
-
Autism diagnostic interview - Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview - revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659-685.
-
(1994)
Journal of Autism and Developmental Disorders
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
14
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L.)
-
Lyon, M. F. (1961). Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature, 190, 372-373.
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
15
-
-
0036829503
-
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
-
Maier, E. M., Kammerer, S., Muntau, A. C., Wichers, M., Braun, A., & Roscher, A. A. (2002). Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Annals of Neurology, 52, 683-688.
-
(2002)
Annals of Neurology
, vol.52
, pp. 683-688
-
-
Maier, E.M.1
Kammerer, S.2
Muntau, A.C.3
Wichers, M.4
Braun, A.5
Roscher, A.A.6
-
16
-
-
0031821968
-
Non-random X chromosome inactivation in mammalian cells
-
Migeon, B. R. (1998). Non-random X chromosome inactivation in mammalian cells. Cytogenetics and Cell Genetics, 80, 142-148.
-
(1998)
Cytogenetics and Cell Genetics
, vol.80
, pp. 142-148
-
-
Migeon, B.R.1
-
17
-
-
0030009776
-
Heritability of X chromosome - Inactivation phenotype in a large family
-
Naumova, A. K., Plenge, R. M., Bird, L. M., Leppert, M., Morgan, K., Willard, H. F., & Sapienza, C. (1996). Heritability of X chromosome - inactivation phenotype in a large family. American Journal of Human Genetics, 58, 1111-1119.
-
(1996)
American Journal of Human Genetics
, vol.58
, pp. 1111-1119
-
-
Naumova, A.K.1
Plenge, R.M.2
Bird, L.M.3
Leppert, M.4
Morgan, K.5
Willard, H.F.6
Sapienza, C.7
-
18
-
-
0030026001
-
Requirement for XIST in X chromosome inactivation
-
Penny, G. D., Kay, G. F., Sheardown, S. A., Rastan, S., & Brockdorff, N. (1996). Requirement for XIST in X chromosome inactivation. Nature, 379, 131-137.
-
(1996)
Nature
, vol.379
, pp. 131-137
-
-
Penny, G.D.1
Kay, G.F.2
Sheardown, S.A.3
Rastan, S.4
Brockdorff, N.5
-
19
-
-
0030723262
-
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
-
Plenge, R. M., Hendrich, B. D., Schwartz, C., Arena, F., Naumova, A., Sapienza, C., Winter, R. M, & Willard, H. F. (1997). A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nature Genetics, 17, 353-356.
-
(1997)
Nature Genetics
, vol.17
, pp. 353-356
-
-
Plenge, R.M.1
Hendrich, B.D.2
Schwartz, C.3
Arena, F.4
Naumova, A.5
Sapienza, C.6
Winter, R.M.7
Willard, H.F.8
-
20
-
-
0036306870
-
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
-
Plenge, R. M., Stevenson, R. A., Lubs, H. A., Schwartz, C. E., & Willard, H. F. (2002). Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. American Journal of Human Genetics, 71, 168-173.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 168-173
-
-
Plenge, R.M.1
Stevenson, R.A.2
Lubs, H.A.3
Schwartz, C.E.4
Willard, H.F.5
-
21
-
-
0027964499
-
Molecular cytogenetic analysis of duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome
-
Rao, P. N., Klinepeter, K., Stewart, W., Hayworth, R., Grubs, R., & Pettenati, M. J. (1994). Molecular cytogenetic analysis of duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome. Human Genetics, 94, 149-153.
-
(1994)
Human Genetics
, vol.94
, pp. 149-153
-
-
Rao, P.N.1
Klinepeter, K.2
Stewart, W.3
Hayworth, R.4
Grubs, R.5
Pettenati, M.J.6
-
22
-
-
37049245274
-
Mammalian X-chromosome action: Inactivation limited in spread and region of origin
-
Russell, L. B. (1963). Mammalian X-chromosome action: Inactivation limited in spread and region of origin. Science, 140, 976-978.
-
(1963)
Science
, vol.140
, pp. 976-978
-
-
Russell, L.B.1
-
23
-
-
0033365299
-
Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion
-
Sangha, K. K., Stephenson, M. D., Brown, C. J., & Robinson, W. P. (1999). Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion. American Journal of Human Genetics, 65, 913-917.
-
(1999)
American Journal of Human Genetics
, vol.65
, pp. 913-917
-
-
Sangha, K.K.1
Stephenson, M.D.2
Brown, C.J.3
Robinson, W.P.4
-
24
-
-
0033543492
-
Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts
-
Sun, Y. J., & Baumer, A. (1999). Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts. American Journal of Medical Genetics, 86, 162-164.
-
(1999)
American Journal of Medical Genetics
, vol.86
, pp. 162-164
-
-
Sun, Y.J.1
Baumer, A.2
-
25
-
-
0032971826
-
Xp deletions associated with autism in three females
-
Thomas, N. S., Sharp, A. J., Browne, C. E., Skuse, D., Hardie, C., & Dennis, N. R. (1999). Xp deletions associated with autism in three females. Human Genetics, 104, 43-48.
-
(1999)
Human Genetics
, vol.104
, pp. 43-48
-
-
Thomas, N.S.1
Sharp, A.J.2
Browne, C.E.3
Skuse, D.4
Hardie, C.5
Dennis, N.R.6
-
26
-
-
0034931813
-
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease
-
Villard, L., Levy, N., Xiang, F., Kpebe, A., Labelle, V., Chevillard, C., Zhang, Z., Schwartz, C. E., Tardieu, M., Chelly, J., Anvret, M., & Fontes, M. (2001). Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease. Journal of Medical Genetics, 38, 435-442.
-
(2001)
Journal of Medical Genetics
, vol.38
, pp. 435-442
-
-
Villard, L.1
Levy, N.2
Xiang, F.3
Kpebe, A.4
Labelle, V.5
Chevillard, C.6
Zhang, Z.7
Schwartz, C.E.8
Tardieu, M.9
Chelly, J.10
Anvret, M.11
Fontes, M.12
-
27
-
-
0027715105
-
Sex differences in pervasive developmental disorder
-
Volkmar, F. R., Szatmari, P., & Sparrow, S. S. (1993). Sex differences in pervasive developmental disorder. Journal of Autism and Developmental Disorders, 23, 579-591.
-
(1993)
Journal of Autism and Developmental Disorders
, vol.23
, pp. 579-591
-
-
Volkmar, F.R.1
Szatmari, P.2
Sparrow, S.S.3
-
28
-
-
0000787866
-
The sex chromosome and X-chromosome inactivation
-
C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), New York: McGraw-Hill
-
Willard, H. F. (1995). The sex chromosome and X-chromosome inactivation. In: C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease. (pp. 717-737). New York: McGraw-Hill.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 717-737
-
-
Willard, H.F.1
-
29
-
-
0142059641
-
A genomewide screen of 345 families for autism-susceptibility loci
-
Yonan, A. L., Alarcon, M., Cheng, R., Magnusson, P. K., Spence, S. J., Palmer, A. A., Grunn, A., Juo, S. H., Terwilliger, J. D., Liu, J., Cantor, R. M., Geschwind, D. H., & Gilliam, T. C. (2003). A genomewide screen of 345 families for autism-susceptibility loci. American Journal of Human Genetics, 73, 886-897.
-
(2003)
American Journal of Human Genetics
, vol.73
, pp. 886-897
-
-
Yonan, A.L.1
Alarcon, M.2
Cheng, R.3
Magnusson, P.K.4
Spence, S.J.5
Palmer, A.A.6
Grunn, A.7
Juo, S.H.8
Terwilliger, J.D.9
Liu, J.10
Cantor, R.M.11
Geschwind, D.H.12
Gilliam, T.C.13
-
30
-
-
0031968341
-
Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy
-
Yoshioka, M., Yorifuji, T., & Mituyoshi, I. (1998). Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clinical Genetics, 53, 102-107.
-
(1998)
Clinical Genetics
, vol.53
, pp. 102-107
-
-
Yoshioka, M.1
Yorifuji, T.2
Mituyoshi, I.3
|