-
1
-
-
0032584163
-
An X chromosome gene regulates hematopoietic stem cell kinetics
-
Abkowitz JL, Taboada M, Shelton GH, Catlin SN, Guttorp P, Kiklevich JV (1998) An X chromosome gene regulates hematopoietic stem cell kinetics. Proc Natl Acad Sci USA 95:3862-3866
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 3862-3866
-
-
Abkowitz, J.L.1
Taboada, M.2
Shelton, G.H.3
Catlin, S.N.4
Guttorp, P.5
Kiklevich, J.V.6
-
2
-
-
0027439920
-
Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
-
Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, et al (1993) Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334
-
(1993)
Am J Med Genet
, vol.45
, pp. 327-334
-
-
Adès, L.C.1
Gedeon, A.K.2
Wilson, M.J.3
Latham, M.4
Partington, M.W.5
Mulley, J.C.6
Nelson, J.7
-
3
-
-
0028079645
-
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia
-
Allen RC, Nachtman RG, Rosenblatt HM, Belmont JW (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet 54:25-35
-
(1994)
Am J Hum Genet
, vol.54
, pp. 25-35
-
-
Allen, R.C.1
Nachtman, R.G.2
Rosenblatt, H.M.3
Belmont, J.W.4
-
4
-
-
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
-
5
-
-
0020974404
-
An X-linked mitochondnal disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
-
Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IEM, Van't Veer-Korthof ETH, Van der Harten JJ, et al (1983) An X-linked mitochondnal disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327-355
-
(1983)
J Neurol Sci
, vol.62
, pp. 327-355
-
-
Barth, P.G.1
Scholte, H.R.2
Berden, J.A.3
Van der Klei-Van Moorsel, J.M.4
Iem, L.-H.5
Eth, V.V.-K.6
Van der Harten, J.J.7
-
6
-
-
0029869035
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts
-
Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, Van Gennip AH, Schutgens RBH, Ketel AG (1996) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis 19:157-160
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 157-160
-
-
Barth, P.G.1
Van den Bogert, C.2
Bolhuis, P.A.3
Scholte, H.R.4
Van Gennip, A.H.5
Rbh, S.6
Ketel, A.G.7
-
7
-
-
0029885015
-
Genetic control of X inactivation and processes leading to X-inactivation skewing
-
Belmont JW (1996) Genetic control of X inactivation and pro-cesses leading to X-inactivation skewing. Am J Hum Genet 58:1101-1108
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1101-1108
-
-
Belmont, J.W.1
-
8
-
-
0029963145
-
A novel X-linked gene, G4.5, is respon-sible for Barth syndrome
-
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996) A novel X-linked gene, G4.5, is respon-sible for Barth syndrome. Nat Genet 12:385-389
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
9
-
-
0030774767
-
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
-
Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868-872
-
(1997)
Am J Hum Genet
, vol.61
, pp. 868-872
-
-
Bleyl, S.B.1
Mumford, B.R.2
Thompson, V.3
Carey, J.C.4
Pysher, T.J.5
Chin, T.K.6
Ward, K.7
-
10
-
-
0026019727
-
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
-
Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG (1991) Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48:481-485
-
(1991)
Am J Hum Genet
, vol.48
, pp. 481-485
-
-
Bolhuis, P.A.1
Hensels, G.W.2
Tjm, H.3
Baas, F.4
Barth, P.G.5
-
11
-
-
0029901946
-
Non-random X-inactivation patterns in normal females: Lyonization ratios vary with age
-
Busque L, Mio R, Mattioli J, Brais E, Biais N, Lalonde Y, Maragh M, et al (1996) Non-random X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 88:59-65
-
(1996)
Blood
, vol.88
, pp. 59-65
-
-
Busque, L.1
Mio, R.2
Mattioli, J.3
Brais, E.4
Biais, N.5
Lalonde, Y.6
Maragh, M.7
-
12
-
-
0028334835
-
Barth syndrome: Clinical observations and genetic linkage studies
-
Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, et al (1994) Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet 50:255-262
-
(1994)
Am J Med Genet
, vol.50
, pp. 255-262
-
-
Christodoulou, J.1
McInnes, R.R.2
Jay, V.3
Wilson, G.4
Becker, L.E.5
Lehotay, D.C.6
Platt, B.A.7
-
13
-
-
16944366521
-
The X-linked gene G4.5 is responsible for different infantile cardiomyopathies
-
D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, et al (1997) The X-linked gene G4.5 is responsible for different infantile cardiomyopathies. Am J Hum Genet 61:862-867
-
(1997)
Am J Hum Genet
, vol.61
, pp. 862-867
-
-
D'Adamo, P.1
Fassone, L.2
Gedeon, A.3
Janssen, E.A.4
Bione, S.5
Bolhuis, P.A.6
Barth, P.G.7
-
14
-
-
0023791121
-
Carrier detection in Wiskott Aldrich syndrome
-
Fearon ER, Kohn DB, Winkelstein JA, Vogelstein B, Blaese RM (1988) Carrier detection in Wiskott Aldrich syndrome. Blood 72:1735-1739
-
(1988)
Blood
, vol.72
, pp. 1735-1739
-
-
Fearon, E.R.1
Kohn, D.B.2
Winkelstein, J.A.3
Vogelstein, B.4
Blaese, R.M.5
-
15
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-58
-
(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, S.6
Verkerk, A.J.7
-
16
-
-
0030928170
-
Acquired skewing of X chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age
-
Gale RE, Fielding AK, Harrison CN, Linch DC (1997) Acquired skewing of X chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br J Haematol 98:512-519
-
(1997)
Br J Haematol
, vol.98
, pp. 512-519
-
-
Gale, R.E.1
Fielding, A.K.2
Harrison, C.N.3
Linch, D.C.4
-
17
-
-
0026687110
-
X-linked a-thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis
-
Gibbons RJ, Suthers GK, Wilkie OM, Buckle VJ, Higgs DR (1992) X-linked a-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet 51:1136-1349
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1136-1349
-
-
Gibbons, R.J.1
Suthers, G.K.2
Wilkie, O.M.3
Buckle, V.J.4
Higgs, D.R.5
-
18
-
-
0002026306
-
Skewed X inactivation can be inherited as a Mendelian trait in humans
-
Hoffman EP, Pegoraro E (1995) Skewed X inactivation can be inherited as a Mendelian trait in humans. Am J Hum Genet Suppl 57:A49
-
(1995)
Am J Hum Genet Suppl
, vol.57
-
-
Hoffman, E.P.1
Pegoraro, E.2
-
19
-
-
0030728921
-
Mutation characterization and genotype-phenotype correlation in Barth syndrome
-
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R (1997) Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 61:1053-58
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
Cox, G.F.4
Iyer, G.S.5
Funanage, V.L.6
Proujansky, R.7
-
20
-
-
0015540280
-
Two cases of endocardial fibroelastosis: Possible X-linked determination
-
Lindenbaum RH, Andrews PS, Khan ASSI (1973) Two cases of endocardial fibroelastosis: possible X-linked determina-tion. Br Heart J 35:38-40
-
(1973)
Br Heart J
, vol.35
, pp. 38-40
-
-
Lindenbaum, R.H.1
Andrews, P.S.2
Khan, A.S.S.I.3
-
21
-
-
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). Nature 190:372-373
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
22
-
-
0027467322
-
The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: Heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation
-
Migeon BR (1993) The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation. Am J Hum Genet 52:431-434
-
(1993)
Am J Hum Genet
, vol.52
, pp. 431-434
-
-
Migeon, B.R.1
-
23
-
-
0030009776
-
Heritability of X chromosome inactivation phenotype in a large family
-
Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C (1996) Heritability of X chromosome inactivation phenotype in a large family. Am J Hum Genet 58:1111-1119
-
(1996)
Am J Hum Genet
, 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
-
24
-
-
0031204998
-
Barth syndrome may be due to an acyltransferase deficiency
-
Neuwald AF (1997) Barth syndrome may be due to an acyl-transferase deficiency. Curr Biol 7:R465-466
-
(1997)
Curr Biol
, vol.7
-
-
Neuwald, A.F.1
-
25
-
-
0029888521
-
Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
-
Østavik KH, Ørstavik RE, Eiklid K, Tranebjærg L (1996a) Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome. Am J Med Genet 64:31-34
-
(1996)
Am J Med Genet
, vol.64
, pp. 31-34
-
-
Østavik, K.H.1
Ørstavik, R.E.2
Eiklid, K.3
Tranebjærg, L.4
-
26
-
-
0029761278
-
X chromosome inactivation pattern in female carriers of X-linked hypophosphataemic rickets
-
Øarstavik KH, Ørstavik RE, Halse J, Knudtzon J (1996b) X chromosome inactivation pattern in female carriers of X-linked hypophosphataemic rickets. J Med Genet 33: 700-703
-
(1996)
J Med Genet
, vol.33
, pp. 700-703
-
-
Øarstavik, K.H.1
Ørstavik, R.E.2
Halse, J.3
Knudtzon, J.4
-
27
-
-
0027414356
-
Possible X linked congenital mitochondrial cardiomyopathy in three families
-
Ørstavik KH, Skjørten F, Hellebostad M, Hågå P, Langslet A (1993) Possible X linked congenital mitochondrial cardiomyopathy in three families. J Med Genet 30:269-272
-
(1993)
J Med Genet
, vol.30
, pp. 269-272
-
-
Ørstavik, K.H.1
Skjørten, F.2
Hellebostad, M.3
Hågå, P.4
Langslet, A.5
-
28
-
-
23444458594
-
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
-
Pegoraro E, Schimke RN, Arahara K, Hayashi Y, Stern H, Marks H, Glasberg MR, et al (1994) Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 54:989-1003
-
(1994)
Am J Hum Genet
, vol.54
, pp. 989-1003
-
-
Pegoraro, E.1
Schimke, R.N.2
Arahara, K.3
Hayashi, Y.4
Stern, H.5
Marks, H.6
Glasberg, M.R.7
-
29
-
-
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, Sapienza C, Winter RM, 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
Sapienza, C.6
Winter, R.M.7
-
30
-
-
0032576744
-
X inactivation in females with X-linked disease
-
Puck J, Willard H (1998) X inactivation in females with X-linked disease. N Engl J Med 338:325-328
-
(1998)
N Engl J Med
, vol.338
, pp. 325-328
-
-
Puck, J.1
Willard, H.2
|