-
1
-
-
0023903667
-
Bleeding symptoms in carriers of hemophilia A and B
-
Mauser Bunschoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, van Dijken PJ, Kok AJ, Sixma JJ. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988; 59: 349-52.
-
(1988)
Thromb. Haemost.
, vol.59
, pp. 349-352
-
-
Mauser Bunschoten, E.P.1
van Houwelingen, J.C.2
Sjamsoedin Visser, E.J.3
van Dijken, P.J.4
Kok, A.J.5
Sixma, J.J.6
-
2
-
-
0027476453
-
Hemophilia B in a 46,XX female probably caused by non-random X inactivation
-
Wadelius C, Lindstedt M, Pigg M, Egberg N, Pettersson U, Anvret M. Hemophilia B in a 46,XX female probably caused by non-random X inactivation. Clin Genet 1993; 43: 1-4.
-
(1993)
Clin. Genet.
, vol.43
, pp. 1-4
-
-
Wadelius, C.1
Lindstedt, M.2
Pigg, M.3
Egberg, N.4
Pettersson, U.5
Anvret, M.6
-
3
-
-
0031947539
-
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome
-
Chan V, Chan VW, Yip B, Chim CS, Chan TK. Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. Am J Hematol 1998; 58: 72-6.
-
(1998)
Am. J. Hematol.
, vol.58
, pp. 72-76
-
-
Chan, V.1
Chan, V.W.2
Yip, B.3
Chim, C.S.4
Chan, T.K.5
-
4
-
-
0014836920
-
Variant of factor IX deficiency in female with 45, X Turner's syndrome
-
Bithell TC, Pizarro A, MacDiarmid WD. Variant of factor IX deficiency in female with 45, X Turner's syndrome. Blood 1970; 36: 169-79.
-
(1970)
Blood
, vol.36
, pp. 169-179
-
-
Bithell, T.C.1
Pizarro, A.2
MacDiarmid, W.D.3
-
5
-
-
0015551363
-
Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism
-
Neuschatz J, Necheles TF. Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism. Acta Haematol 1973; 49 109-13.
-
(1973)
Acta Haematol.
, vol.49
, pp. 109-113
-
-
Neuschatz, J.1
Necheles, T.F.2
-
6
-
-
0031929053
-
A de novo translocation 46,X,t(X,15) causing haemophilia B in a girl: A case report
-
Schroder W, Poetsch M, Gazda H, Werner W, Reichelt T, Knoll W, Rokicka-Milewska R, Zieleniewska B, Herrmann FH. A de novo translocation 46,X,t(X,15) causing haemophilia B in a girl: a case report. Br J Haematol 1998; 100: 750-7.
-
(1998)
Br. J. Haematol.
, vol.100
, pp. 750-757
-
-
Schroder, W.1
Poetsch, M.2
Gazda, H.3
Werner, W.4
Reichelt, T.5
Knoll, W.6
Rokicka-Milewska, R.7
Zieleniewska, B.8
Herrmann, F.H.9
-
7
-
-
0034993219
-
Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B
-
Krepischi-Santos AC, Carneiro JD, Svartman M, Bendit I, Odone-Filho V, Vianna-Morgante AM. Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B. Br J Haematol 2001; 113: 616-20.
-
(2001)
Br. J. Haematol.
, vol.113
, pp. 616-620
-
-
Krepischi-Santos, A.C.1
Carneiro, J.D.2
Svartman, M.3
Bendit, I.4
Odone-Filho, V.5
Vianna-Morgante, A.M.6
-
10
-
-
0022979091
-
The molecular basis of severe hemophilia B in a girl
-
Nisen P, Stamberg J, Ehrenpreis R, Velasco S, Shende A, Engelberg J, Karayalcin G, Waber L. The molecular basis of severe hemophilia B in a girl. N Engl J Med 1986; 315: 1139-42.
-
(1986)
N. Engl. J. Med.
, vol.315
, pp. 1139-1142
-
-
Nisen, P.1
Stamberg, J.2
Ehrenpreis, R.3
Velasco, S.4
Shende, A.5
Engelberg, J.6
Karayalcin, G.7
Waber, L.8
-
11
-
-
0025960560
-
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency)
-
Taylor SA, Deugau KV, Lillicrap DP. Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 1991; 88: 39-42.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 39-42
-
-
Taylor, S.A.1
Deugau, K.V.2
Lillicrap, D.P.3
-
12
-
-
1842331461
-
Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes
-
Schroder W, Wulff K, Wollina K, Herrmann FH. Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes. Thromb Haemost 1997; 78: 1347-51.
-
(1997)
Thromb. Haemost.
, vol.78
, pp. 1347-1351
-
-
Schroder, W.1
Wulff, K.2
Wollina, K.3
Herrmann, F.H.4
-
13
-
-
0035016354
-
Phenotypic effects of balanced X-autosome translocations in females: A retrospective survey of 104 cases reported from UK laboratories
-
Waters JJ, Campbell PL, Crocker AJ, Campbell CM. Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet 2001; 108: 318-27.
-
(2001)
Hum. Genet.
, vol.108
, pp. 318-327
-
-
Waters, J.J.1
Campbell, P.L.2
Crocker, A.J.3
Campbell, C.M.4
-
14
-
-
0012953756
-
Gamma delta beta-thalassemia due to a de novo mutation deleting the 5′ beta-globin gene activation-region hypersensitive sites
-
Driscoll MC, Dobkin CS, Alter BP. Gamma delta beta-thalassemia due to a de novo mutation deleting the 5′ beta-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA 1989; 86: 7470-4.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 7470-7474
-
-
Driscoll, M.C.1
Dobkin, C.S.2
Alter, B.P.3
-
15
-
-
0034202522
-
Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro
-
Miao CH, Ohashi K, Patijn GA, Meuse L, Ye X, Thompson AR, Kay MA. Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro. Mol Ther 2000; 1: 522-32.
-
(2000)
Mol. Ther.
, vol.1
, pp. 522-532
-
-
Miao, C.H.1
Ohashi, K.2
Patijn, G.A.3
Meuse, L.4
Ye, X.5
Thompson, A.R.6
Kay, M.A.7
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