-
1
-
-
0035228079
-
X-chromosome inactivation: Counting, choice and initiation
-
Avner P, Heard E. 2001. X-chromosome inactivation: Counting, choice and initiation. Nat Rev Genet 2:59-67.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 59-67
-
-
Avner, P.1
Heard, E.2
-
2
-
-
0026871640
-
Mammalian X-chromosome inactivation and the XIST gene
-
Ballabio A, Willard HF. 1992. Mammalian X-chromosome inactivation and the XIST gene. Curr Opin Genet Dev 2:439-447.
-
(1992)
Curr Opin Genet Dev
, vol.2
, pp. 439-447
-
-
Ballabio, A.1
Willard, H.F.2
-
3
-
-
0035979173
-
PNA interference mapping demonstrates functional domains in the noncoding RNA Xist
-
Beletskii A, Hong YK, Pehrson J, Egholm M, Strauss WM. 2001. PNA interference mapping demonstrates functional domains in the noncoding RNA Xist. Proc Natl Acad Sci USA 98:9215-9220.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9215-9220
-
-
Beletskii, A.1
Hong, Y.K.2
Pehrson, J.3
Egholm, M.4
Strauss, W.M.5
-
4
-
-
0031975633
-
X chromosome inactivation and the Xist gene
-
Brockdorff N, Duthie SM. 1998. X chromosome inactivation and the Xist gene. Cell Mol Life Sci 54:104-112.
-
(1998)
Cell Mol Life Sci
, vol.54
, pp. 104-112
-
-
Brockdorff, N.1
Duthie, S.M.2
-
5
-
-
0026251250
-
XIST and the mapping of the X chromosome inactivation centre
-
Brown SD. 1991. XIST and the mapping of the X chromosome inactivation centre. Bioessays 13:607-612.
-
(1991)
Bioessays
, vol.13
, pp. 607-612
-
-
Brown, S.D.1
-
6
-
-
0025961771
-
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
-
Brown CJ, Ballabio A, Rupert JL, Lafreniere EG, Grompe M, Tonlorenzi R, Willard HF. 1991a. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-44.
-
(1991)
Nature
, vol.349
, pp. 38-44
-
-
Brown, C.J.1
Ballabio, A.2
Rupert, J.L.3
Lafreniere, E.G.4
Grompe, M.5
Tonlorenzi, R.6
Willard, H.F.7
-
7
-
-
0026007719
-
Localization of the X inactivation centre on the human X chromosome in Xq13
-
Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. 1991b. Localization of the X inactivation centre 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
Pettigrew, A.L.6
Ledbetter, D.H.7
Levy, E.8
Craig, I.W.9
Willard, H.F.10
-
8
-
-
0030952221
-
Expression of genes from the human active and inactive X chromosomes
-
Brown CJ, Carrel L, Willard HF. 1997. Expression of genes from the human active and inactive X chromosomes. Am J Hum Genet 60:1333-1343.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1333-1343
-
-
Brown, C.J.1
Carrel, L.2
Willard, H.F.3
-
10
-
-
0028107779
-
Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: Additional support for the loss of the X-inactivation center hypothesis
-
Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C. 1994. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: Additional support for the loss of the X-inactivation center hypothesis. Am J Med Genet 52:136-145.
-
(1994)
Am J Med Genet
, vol.52
, pp. 136-145
-
-
Cole, H.1
Huang, B.2
Salbert, B.A.3
Brown, J.4
Howard-Peebles, P.N.5
Black, S.H.6
Dorfmann, A.7
Febles, O.R.8
Stevens, C.A.9
Jackson-Cook, C.10
-
11
-
-
0031040354
-
Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito
-
Correa-Cerro LS, Rivera H, Vasquez AI. 1997. Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. J Med Genet 34:161-163.
-
(1997)
J Med Genet
, vol.34
, pp. 161-163
-
-
Correa-Cerro, L.S.1
Rivera, H.2
Vasquez, A.I.3
-
12
-
-
0033786952
-
A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes
-
Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. 2000. A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes. Ann Hum Genet 64:277-293.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 277-293
-
-
Dennis, N.1
Coppin, B.2
Turner, C.3
Skuse, D.4
Jacobs, P.5
-
13
-
-
0003815152
-
Chromosome abnormalities and genetic counseling
-
3rd ed. Oxford, New York: Oxford University Press
-
Gardner RJM, Sutherland GR. 2004. Chromosome abnormalities and genetic counseling. Oxford monographs on medical genetics; no 46. 3rd ed. Oxford, New York: Oxford University Press, pp 98-104.
-
(2004)
Oxford Monographs on Medical Genetics
, vol.46
, pp. 98-104
-
-
Gardner, R.J.M.1
Sutherland, G.R.2
-
14
-
-
0025943037
-
Mammalian sex chromosomes: Evolution of organization and function
-
Graves JA, Watson JM. 1991. Mammalian sex chromosomes: Evolution of organization and function. Chromosoma 101:63-68.
-
(1991)
Chromosoma
, vol.101
, pp. 63-68
-
-
Graves, J.A.1
Watson, J.M.2
-
15
-
-
0028029825
-
Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation
-
Gustashaw KM, Zurcher V, Dickerman LH, Stallard R, Willard HF. 1994. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. Am J Med Genet 53:39-45.
-
(1994)
Am J Med Genet
, vol.53
, pp. 39-45
-
-
Gustashaw, K.M.1
Zurcher, V.2
Dickerman, L.H.3
Stallard, R.4
Willard, H.F.5
-
16
-
-
0029995003
-
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp
-
Hatchwell E, Robinson D, Crolla JA, Cockwell AE. 1996. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp. J Med Genet 33:216-220.
-
(1996)
J Med Genet
, vol.33
, pp. 216-220
-
-
Hatchwell, E.1
Robinson, D.2
Crolla, J.A.3
Cockwell, A.E.4
-
17
-
-
0032911722
-
Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects
-
Hoang MP, Wilson KS, Schneider NR, Timmons CF. 1999. Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects. Pediatr Dev Pathol 2:58-61.
-
(1999)
Pediatr Dev Pathol
, vol.2
, pp. 58-61
-
-
Hoang, M.P.1
Wilson, K.S.2
Schneider, N.R.3
Timmons, C.F.4
-
18
-
-
0025373291
-
Multiple congenital anomalies associated with a 47,XXX chromosome constitution
-
Hood OJ, Hartwell EA, Shattuck KE, Rosenberg HS. 1990. Multiple congenital anomalies associated with a 47,XXX chromosome constitution. Am J Med Genet 36:73-75.
-
(1990)
Am J Med Genet
, vol.36
, pp. 73-75
-
-
Hood, O.J.1
Hartwell, E.A.2
Shattuck, K.E.3
Rosenberg, H.S.4
-
19
-
-
0027268523
-
Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3; p11.2)/46,X,t(X;21) (p21.3;p11.2)
-
Ishikiriyama S, Iai M, Tanabe Y. 1993. Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3; p11.2)/46,X,t(X;21) (p21.3;p11.2). Am J Med Genet 47:41-44.
-
(1993)
Am J Med Genet
, vol.47
, pp. 41-44
-
-
Ishikiriyama, S.1
Iai, M.2
Tanabe, Y.3
-
20
-
-
0029026562
-
Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation
-
Jani MM, Torchia BS, Pai GS, Migeon BR. 1995. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation. Genomics 27:182-188.
-
(1995)
Genomics
, vol.27
, pp. 182-188
-
-
Jani, M.M.1
Torchia, B.S.2
Pai, G.S.3
Migeon, B.R.4
-
21
-
-
0036862488
-
Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome
-
Johnston KM, Nevin NC, Park JM. 2002. Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome. J Obstet Gynaecol 22:696.
-
(2002)
J Obstet Gynaecol
, vol.22
, pp. 696
-
-
Johnston, K.M.1
Nevin, N.C.2
Park, J.M.3
-
22
-
-
0003881494
-
-
St. Louis, MO: Mosby
-
Jorde LB. 2003. Medical genetics. St. Louis, MO: Mosby. p 363.
-
(2003)
Medical Genetics
, pp. 363
-
-
Jorde, L.B.1
-
23
-
-
0036461367
-
Partial Xp duplication in a girl with dysmorphic features: The change in replication pattern of late-replicating dupX chromosome
-
Kokalj Vokac N, Seme Ciglenecki P, Erjavec A, Zagradisnik B, Zagorac A. 2002. Partial Xp duplication in a girl with dysmorphic features: The change in replication pattern of late-replicating dupX chromosome. Clin Genet 61:54-61.
-
(2002)
Clin Genet
, vol.61
, pp. 54-61
-
-
Kokalj Vokac, N.1
Seme Ciglenecki, P.2
Erjavec, A.3
Zagradisnik, B.4
Zagorac, A.5
-
24
-
-
0033785950
-
Ring-X chromosomes: Their cognitive and behavioural phenotype
-
Kuntsi J, Skuse D, Elgar K, Morris E, Turner C. 2000. Ring-X chromosomes: Their cognitive and behavioural phenotype. Ann Hum Genet 64:295-305.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 295-305
-
-
Kuntsi, J.1
Skuse, D.2
Elgar, K.3
Morris, E.4
Turner, C.5
-
25
-
-
0030895047
-
Long-range cis effects of ectopic X-inactivation centres on a mouse autosome
-
Lee JT, Jaenisch R. 1997. Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nature 386:275-279.
-
(1997)
Nature
, vol.386
, pp. 275-279
-
-
Lee, J.T.1
Jaenisch, R.2
-
26
-
-
0027450295
-
Exstrophy of the cloaca in a 47,XXX child: Review of genitourinary malformations in triple-X patients
-
Lin HJ, Ndiforchu F, Patell S. 1993. Exstrophy of the cloaca in a 47,XXX child: Review of genitourinary malformations in triple-X patients. Am J Med Genet 45:761-763.
-
(1993)
Am J Med Genet
, vol.45
, pp. 761-763
-
-
Lin, H.J.1
Ndiforchu, F.2
Patell, S.3
-
27
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L.)
-
Lyon MF. 1961. Gene action in the X-chromosome of the mouse (Mus musculus L.). Naturwissenschaften 190:372-373.
-
(1961)
Naturwissenschaften
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
28
-
-
0036981036
-
X-chromosome inactivation and human genetic disease
-
Lyon MF. 2002. X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl 91:107-112.
-
(2002)
Acta Paediatr Suppl
, vol.91
, pp. 107-112
-
-
Lyon, M.F.1
-
29
-
-
0031044166
-
Xist-deficient mice are defective in dosage compensation but not spermatogenesis
-
Marahrens Y, Panning B, Dausman J, Strauss W, Jaenisch R. 1997. Xist-deficient mice are defective in dosage compensation but not spermatogenesis. Genes Dev 11:156-166.
-
(1997)
Genes Dev
, vol.11
, pp. 156-166
-
-
Marahrens, Y.1
Panning, B.2
Dausman, J.3
Strauss, W.4
Jaenisch, R.5
-
30
-
-
0032769462
-
Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature
-
Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. 1999. Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature. Am J Med Genet 86:44-50.
-
(1999)
Am J Med Genet
, vol.86
, pp. 44-50
-
-
Matsuo, M.1
Muroya, K.2
Kosaki, K.3
Ishii, T.4
Fukushima, Y.5
Anzo, M.6
Ogata, T.7
-
31
-
-
0027991877
-
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
-
Migeon BR, Luo S, Jani M, Jeppesen P. 1994. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet 55:497-504.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 497-504
-
-
Migeon, B.R.1
Luo, S.2
Jani, M.3
Jeppesen, P.4
-
32
-
-
0003928850
-
-
Philadelphia, PA: Saunders
-
Nussbaum RL, McInnes RR, Willard HF, Thompson MW. 2001. Thompson & Thompson genetics in medicine. Philadelphia, PA: Saunders. p 444.
-
(2001)
Thompson & Thompson Genetics in Medicine
, pp. 444
-
-
Nussbaum, R.L.1
McInnes, R.R.2
Willard, H.F.3
Thompson, M.W.4
-
33
-
-
0030026001
-
Requirement for Xist in X chromosome inactivation
-
Penny GD, Kay GF, Sheardown SA, 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
-
34
-
-
0033847952
-
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
-
Portnoi MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, et al. 2000. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 58:116-122.
-
(2000)
Clin Genet
, vol.58
, pp. 116-122
-
-
Portnoi, M.F.1
Bouayed-Abdelmoula, N.2
Mirc, M.3
Zemni, R.4
Castaing, H.5
Stephann, J.6
Ardalan, A.7
Vialard, F.8
Nouchy, M.9
Daoud, P.10
-
35
-
-
0028087750
-
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature
-
Powell CM, Taggart RT, Drumheller TC, Wangsa D, Qian C, Nelson LM, White BJ. 1994. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet 52:19-26.
-
(1994)
Am J Med Genet
, vol.52
, pp. 19-26
-
-
Powell, C.M.1
Taggart, R.T.2
Drumheller, T.C.3
Wangsa, D.4
Qian, C.5
Nelson, L.M.6
White, B.J.7
-
36
-
-
0032988159
-
Long-term outcome in children of sex chromosome abnormalities
-
Ratcliffe S. 1999. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80:192-195.
-
(1999)
Arch Dis Child
, vol.80
, pp. 192-195
-
-
Ratcliffe, S.1
-
37
-
-
0026947540
-
X inactivation in mammalian testis is correlated with inactive X-specific transcription
-
Richler C, Soreq H, Wahrman J. 1992. X inactivation in mammalian testis is correlated with inactive X-specific transcription. Nat Genet 2:192-195.
-
(1992)
Nat Genet
, vol.2
, pp. 192-195
-
-
Richler, C.1
Soreq, H.2
Wahrman, J.3
-
38
-
-
0026499911
-
Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases
-
Schmidt M, Du Sart D. 1992. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases. Am J Med Genet 42:161-169.
-
(1992)
Am J Med Genet
, vol.42
, pp. 161-169
-
-
Schmidt, M.1
Du Sart, D.2
-
39
-
-
0016176571
-
Abnormal X chromosomes in man: Origin, behavior and effects
-
Therman E, Patau K. 1974. Abnormal X chromosomes in man: Origin, behavior and effects. Humangenetik 25:1-16.
-
(1974)
Humangenetik
, vol.25
, pp. 1-16
-
-
Therman, E.1
Patau, K.2
-
40
-
-
0027196248
-
Duplication of the short arm of the X chromosome in mother and daughter
-
Tuck-Muller CM, Martinez JE, Batista DA, Kearns WG, Wertelecki W. 1993. Duplication of the short arm of the X chromosome in mother and daughter. Hum Genet 91:395-400.
-
(1993)
Hum Genet
, vol.91
, pp. 395-400
-
-
Tuck-Muller, C.M.1
Martinez, J.E.2
Batista, D.A.3
Kearns, W.G.4
Wertelecki, W.5
-
41
-
-
0034058078
-
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
-
Turner C, Dennis NR, Skuse DH, Jacobs PA. 2000. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Hum Genet 106:93-100.
-
(2000)
Hum Genet
, vol.106
, pp. 93-100
-
-
Turner, C.1
Dennis, N.R.2
Skuse, D.H.3
Jacobs, P.A.4
-
42
-
-
0027930370
-
Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
-
Wolff DJ, Brown CJ, Schwartz S, Duncan AM, Surti U, Willard HF. 1994. Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations. Am J Hum Genet 55:87-95.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 87-95
-
-
Wolff, D.J.1
Brown, C.J.2
Schwartz, S.3
Duncan, A.M.4
Surti, U.5
Willard, H.F.6
-
43
-
-
0029656085
-
Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation
-
Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF. 1996. Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation. Am J Hum Genet 58:154-160.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 154-160
-
-
Wolff, D.J.1
Miller, A.P.2
Van Dyke, D.L.3
Schwartz, S.4
Willard, H.F.5
-
44
-
-
0033637110
-
A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation
-
Wutz A, Jaenisch R. 2000. A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation. Mol Cell 5:695-705.
-
(2000)
Mol Cell
, vol.5
, pp. 695-705
-
-
Wutz, A.1
Jaenisch, R.2
-
45
-
-
0036479009
-
Chromosomal silencing and localization are mediated by different domains of Xist RNA
-
Wutz A, Rasmussen TP, Jaenisch R. 2002. Chromosomal silencing and localization are mediated by different domains of Xist RNA. Nat Genet 30:167-174.
-
(2002)
Nat Genet
, vol.30
, pp. 167-174
-
-
Wutz, A.1
Rasmussen, T.P.2
Jaenisch, R.3
-
46
-
-
0025833096
-
Partial duplication of Xp: A case report and review of previously reported cases
-
Wyandt HE, Bugeau-Michaud L, Skare JC, Milunsky A. 1991. Partial duplication of Xp: A case report and review of previously reported cases. Am J Med Genet 40:280-283.
-
(1991)
Am J Med Genet
, vol.40
, pp. 280-283
-
-
Wyandt, H.E.1
Bugeau-Michaud, L.2
Skare, J.C.3
Milunsky, A.4
-
47
-
-
0031012016
-
Molecular cytogenetic identification of four X chromosome duplications
-
Zhang A, Weaver DD, Palmer CG. 1997. Molecular cytogenetic identification of four X chromosome duplications. Am J Med Genet 68:29-38.
-
(1997)
Am J Med Genet
, vol.68
, pp. 29-38
-
-
Zhang, A.1
Weaver, D.D.2
Palmer, C.G.3
|