-
1
-
-
0035086205
-
Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy
-
Schmidt S, Träber F, Block W, Keller E, Pohl C, et al. (2001) Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 248: 36-44.
-
(2001)
J Neurol
, vol.248
, pp. 36-44
-
-
Schmidt, S.1
Träber, F.2
Block, W.3
Keller, E.4
Pohl, C.5
-
3
-
-
33748675306
-
X chromosome inactivation patterns of 1,005 phenotypically unaffected females
-
Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, et al. (2006) X chromosome inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 79: 493-499.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 493-499
-
-
Amos-Landgraf, J.M.1
Cottle, A.2
Plenge, R.M.3
Friez, M.4
Schwartz, C.E.5
-
4
-
-
0032406475
-
Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human
-
Naumova AK, Olien L, Bird LM, Smith M, Verner AE, et al. (1998) Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human. Eur J Hum Genet 6: 552-562.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 552-562
-
-
Naumova, A.K.1
Olien, L.2
Bird, L.M.3
Smith, M.4
Verner, A.E.5
-
5
-
-
34249697143
-
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females
-
Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, et al. (2007) Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females. Eur J Hum Genet 15: 628-637.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 628-637
-
-
Renault, N.K.1
Dyack, S.2
Dobson, M.J.3
Costa, T.4
Lam, W.L.5
-
6
-
-
0043166344
-
X-inactivation patterns in carriers of X-linked myotubular myopathy
-
Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, et al. (2003) X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord 13: 468-471.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 468-471
-
-
Kristiansen, M.1
Knudsen, G.P.2
Tanner, S.M.3
McEntagart, M.4
Jungbluth, H.5
-
7
-
-
0142155621
-
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
-
Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, et al. (2003) Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet 40: e103.
-
(2003)
J Med Genet
, vol.40
-
-
Morrone, A.1
Cavicchi, C.2
Bardelli, T.3
Antuzzi, D.4
Parini, R.5
-
8
-
-
49649085557
-
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
-
Shaikh MG, Boyes L, Kingston H, Collins R, Besley GT, et al. (2008) Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J Med Genet 45: e1.
-
(2008)
J Med Genet
, vol.45
-
-
Shaikh, M.G.1
Boyes, L.2
Kingston, H.3
Collins, R.4
Besley, G.T.5
-
9
-
-
0036829503
-
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
-
Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, et al. (2002) Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol 52: 683-688.
-
(2002)
Ann Neurol
, vol.52
, pp. 683-688
-
-
Maier, E.M.1
Kammerer, S.2
Muntau, A.C.3
Wichers, M.4
Braun, A.5
-
10
-
-
0027178011
-
Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
-
Watkiss E, Webb T, Bundey S, (1993) Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet 30: 651-654.
-
(1993)
J Med Genet
, vol.30
, pp. 651-654
-
-
Watkiss, E.1
Webb, T.2
Bundey, S.3
-
11
-
-
84856091180
-
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
-
Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, et al. (2012) Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Orphanet J Rare Dis 7: 10.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 10
-
-
Salsano, E.1
Tabano, S.2
Sirchia, S.M.3
Colapietro, P.4
Castellotti, B.5
-
12
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW, (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229-1239.
-
(1992)
Am J Hum Genet
, 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
-
13
-
-
0030723262
-
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
-
Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, et al. (1997) A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 17: 353-356.
-
(1997)
Nat Genet
, vol.17
, pp. 353-356
-
-
Plenge, R.M.1
Hendrich, B.D.2
Schwartz, C.3
Arena, J.F.4
Naumova, A.5
-
14
-
-
0343558600
-
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells
-
Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, et al. (1981) Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 78: 5066-5070.
-
(1981)
Proc Natl Acad Sci USA
, vol.78
, pp. 5066-5070
-
-
Migeon, B.R.1
Moser, H.W.2
Moser, A.B.3
Axelman, J.4
Sillence, D.5
-
15
-
-
17344363494
-
Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation
-
Pugacheva EM, Tiwari VK, Abdullaev Z, Vostrov AA, Flanagan PT, et al. (2005) Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation. Hum Mol Genet 14: 953-965.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 953-965
-
-
Pugacheva, E.M.1
Tiwari, V.K.2
Abdullaev, Z.3
Vostrov, A.A.4
Flanagan, P.T.5
-
16
-
-
0033527685
-
Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation
-
Pereira LV, Zatz M, (1999) Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. Am J Med Genet 87: 86-87.
-
(1999)
Am J Med Genet
, vol.87
, pp. 86-87
-
-
Pereira, L.V.1
Zatz, M.2
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