-
1
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait
-
1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 1968;18:671-80.
-
(1968)
Neurology
, vol.18
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
2
-
-
0020457362
-
X-linked recessive bulbospinal neuronopathy: A report of ten cases
-
2. Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 1982;45:1012-19.
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 1012-1019
-
-
Harding, A.E.1
Thomas, P.K.2
Baraitser, M.3
Bradbury, P.G.4
Morgan-Hughes, J.A.5
Ponsford, J.R.6
-
3
-
-
0024586435
-
X-linked recessive bulbospinal neuronopathy. A clinicopathological study
-
3. Sabue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 1989;112:209-32.
-
(1989)
Brain
, vol.112
, pp. 209-232
-
-
Sabue, G.1
Hashizume, Y.2
Mukai, E.3
Hirayama, M.4
Mitsuma, T.5
Takahashi, A.6
-
4
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
4. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352:77-9.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
5
-
-
0026443976
-
X-linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding
-
5. Warner CL, Griffin JE, Wilson JD et al. X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. Neurology 1992;42:2181-4.
-
(1992)
Neurology
, vol.42
, pp. 2181-2184
-
-
Warner, C.L.1
Griffin, J.E.2
Wilson, J.D.3
-
6
-
-
0024595174
-
Nonrandom X chromosome DNA methylation patterns in hemophiliac females
-
6. Nisen PD, Waber PG. Nonrandom X chromosome DNA methylation patterns in hemophiliac females. J Clin Invest 1989;83:1400-3.
-
(1989)
J Clin Invest
, vol.83
, pp. 1400-1403
-
-
Nisen, P.D.1
Waber, P.G.2
-
7
-
-
0022979091
-
The molecular basis of severe hemophilia B in a girl
-
7. Nisen P, Stamberg J, Ehrenpreis R et al. 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
-
8
-
-
0025356469
-
Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene
-
8. Brown RM, Fraser NJ, Brown GK. Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene. Genomics 1990;7:215-21.
-
(1990)
Genomics
, vol.7
, pp. 215-221
-
-
Brown, R.M.1
Fraser, N.J.2
Brown, G.K.3
-
9
-
-
0025961771
-
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
-
9. Brown CJ, Ballabio A, Rupert JL et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991; 349:38-44.
-
(1991)
Nature
, vol.349
, pp. 38-44
-
-
Brown, C.J.1
Ballabio, A.2
Rupert, J.L.3
-
10
-
-
0026678490
-
Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
10. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-39.
-
(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
-
11
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
11. Hoffman EP, Arahata K, Minetti C et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992;42:967-75.
-
(1992)
Neurology
, vol.42
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
-
13
-
-
0031774524
-
X-linked recessive bulbospinal neuronopathy: Clinical and molecular studies in a Taiwanese family
-
13. Huang CC, Chen RS, Chu NS, Cheng CC, Pan CY, Wei YH. X-linked recessive bulbospinal neuronopathy: clinical and molecular studies in a Taiwanese family. J Formos Med Assoc 1998;97:354-9.
-
(1998)
J Formos Med Assoc
, vol.97
, pp. 354-359
-
-
Huang, C.C.1
Chen, R.S.2
Chu, N.S.3
Cheng, C.C.4
Pan, C.Y.5
Wei, Y.H.6
-
14
-
-
0028825522
-
Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease
-
14. Liu CS, Chang YC, Chen DF et al. Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease. Acta Neurol Scand 1995; 92:398-404.
-
(1995)
Acta Neurol Scand
, vol.92
, pp. 398-404
-
-
Liu, C.S.1
Chang, Y.C.2
Chen, D.F.3
-
15
-
-
0021979069
-
Hypervariable "mini-satellite" regions in human DNA
-
15. Jeffreys AJ, Wilson V, Thein SL. Hypervariable "mini-satellite" regions in human DNA. Nature 1985;314:67-73.
-
(1985)
Nature
, vol.314
, pp. 67-73
-
-
Jeffreys, A.J.1
Wilson, V.2
Thein, S.L.3
-
16
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
16. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
17
-
-
0027291710
-
Subclinical phenotypic expressions heterozygous females of X-linked recessive bulbospinal neuronopathy
-
17. Sobue G, Doyu M, Kachi T et al. Subclinical phenotypic expressions heterozygous females of X-linked recessive bulbospinal neuronopathy. J Neurol Sci 1993;117:74-8.
-
(1993)
J Neurol Sci
, vol.117
, pp. 74-78
-
-
Sobue, G.1
Doyu, M.2
Kachi, T.3
-
18
-
-
0028952350
-
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motorneuron disorders
-
18. Ferlini A, Patrosso MC, Guidetti D et al. Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motorneuron disorders. Am J Med Genet 1995;55:105-11.
-
(1995)
Am J Med Genet
, vol.55
, pp. 105-111
-
-
Ferlini, A.1
Patrosso, M.C.2
Guidetti, D.3
-
19
-
-
7144223296
-
Gene action in the X-chromosome of the mouse
-
19. Lyon MF. Gene action in the X-chromosome of the mouse. Nature 1961;190:372-3.
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
20
-
-
0021992165
-
Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors
-
20. Vogelstein B, Fearon ER, Hamilton SR, Feinberg AP. Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors. Science 1985;227:642-5.
-
(1985)
Science
, vol.227
, pp. 642-645
-
-
Vogelstein, B.1
Fearon, E.R.2
Hamilton, S.R.3
Feinberg, A.P.4
|