-
1
-
-
0024444395
-
Choroideremia and deafness with stapes fixation: A contigous gene deletion syndrome in Xq21
-
Merry DE, Leslo JG, Sosnoski DM, et al. Choroideremia and deafness with stapes fixation: a contigous gene deletion syndrome in Xq21. Am J Hum Genet 1989;45:530-40.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 530-540
-
-
Merry, D.E.1
Leslo, J.G.2
Sosnoski, D.M.3
-
2
-
-
0022916664
-
Choroideremia: Further evidence for assignment of the locus to Xq13-Xq21
-
Schwartz M, Rosenberg T, Niebuhr E, et al. Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. Hum Genet 1986;74:449-52.
-
(1986)
Hum Genet
, vol.74
, pp. 449-452
-
-
Schwartz, M.1
Rosenberg, T.2
Niebuhr, E.3
-
3
-
-
0028816738
-
Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females
-
Abeliovitch D, Dagan J, Kimchi-Sarfati C, Zlotogora J. Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females. Am J Med Genet 1995;55:359-62.
-
(1995)
Am J Med Genet
, vol.55
, pp. 359-362
-
-
Abeliovitch, D.1
Dagan, J.2
Kimchi-Sarfati, C.3
Zlotogora, J.4
-
4
-
-
0026549518
-
Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2)
-
Yokoyama Y, Narahara K, Tsuji K, et al. Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2). Am J Med Genet 1992;42:660-4.
-
(1992)
Am J Med Genet
, vol.42
, pp. 660-664
-
-
Yokoyama, Y.1
Narahara, K.2
Tsuji, K.3
-
5
-
-
0346118229
-
Isolation of anonymous sequences from within a submicroscopic X-chromosome deletion in a patient with Choroideremia, deafness and mental retardation
-
Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. Isolation of anonymous sequences from within a submicroscopic X-chromosome deletion in a patient with Choroideremia, deafness and mental retardation. Proc Natl Acad Sci USA 1987;84:6521-5.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 6521-6525
-
-
Nussbaum, R.L.1
Lesko, J.G.2
Lewis, R.A.3
Ledbetter, S.A.4
Ledbetter, D.H.5
-
6
-
-
0024530511
-
Physical mapping of tie Choroideremia locus using Xq21 deletions associated with complex syndromes
-
Cremers FPM, van de Pol DJR, Diergaarde PJ, et al. Physical mapping of tie Choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 1989;4:41-6.
-
(1989)
Genomics
, vol.4
, pp. 41-46
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Diergaarde, P.J.3
-
7
-
-
0023124327
-
Prenatal diagnosis of X-linked Choroideremia with mental retardation, associated with a cytologically detected X-chromosome deletion
-
Hodgson SV, Robertson ME, Fear CN, et al. Prenatal diagnosis of X-linked Choroideremia with mental retardation, associated with a cytologically detected X-chromosome deletion. Hum Genet 1987;75:286-90.
-
(1987)
Hum Genet
, vol.75
, pp. 286-290
-
-
Hodgson, S.V.1
Robertson, M.E.2
Fear, C.N.3
-
8
-
-
0001720466
-
Studies on X-linked mental retardation: Evidence for a gene in the region Xq11-q22
-
Carpenter NJ, Waziri M, Liston J, Patil SR. Studies on X-linked mental retardation: evidence for a gene in the region Xq11-q22. Am J Hum Genet 1988;43:A139.
-
(1988)
Am J Hum Genet
, vol.43
-
-
Carpenter, N.J.1
Waziri, M.2
Liston, J.3
Patil, S.R.4
-
10
-
-
0025085637
-
Allan-Herndon syndrome. II. Linkage to DNA marker in Xq21
-
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Allan-Herndon syndrome. II. Linkage to DNA marker in Xq21. Am J Hum Genet 1990;47:454-8.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 454-458
-
-
Schwartz, C.E.1
Ulmer, J.2
Brown, A.3
Pancoast, I.4
Goodman, H.O.5
Stevenson, R.E.6
-
11
-
-
19144365441
-
Allan-Herndon-Dudley syndrome, linkage analysis in a third family and refinement of the localization in Xq21
-
Schwartz CE, Martin J, Ouzts L, Arena JF, Lubs AH, Stevenson RE. Allan-Herndon-Dudley syndrome, linkage analysis in a third family and refinement of the localization in Xq21. Cytogenet Cell Genet 1994;67:351.
-
(1994)
Cytogenet Cell Genet
, vol.67
, pp. 351
-
-
Schwartz, C.E.1
Martin, J.2
Ouzts, L.3
Arena, J.F.4
Lubs, A.H.5
Stevenson, R.E.6
-
12
-
-
19144369010
-
Linkage analysis demonstrating association of DXYS1 and nonspecific X-linked mental retardation
-
Jedele KB, Michels W, Wagner KV. Linkage analysis demonstrating association of DXYS1 and nonspecific X-linked mental retardation. Am J Hum Genet 1990;47:A62.
-
(1990)
Am J Hum Genet
, vol.47
-
-
Jedele, K.B.1
Michels, W.2
Wagner, K.V.3
-
13
-
-
0026663561
-
MRX8: An X-linked mental retardation condition with linkage to Xq21
-
Schwartz CE, May M, Huang T, et al. MRX8: an X-linked mental retardation condition with linkage to Xq21. Am J Med Genet 1992;43:467-74.
-
(1992)
Am J Med Genet
, vol.43
, pp. 467-474
-
-
Schwartz, C.E.1
May, M.2
Huang, T.3
|