-
1
-
-
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
-
2
-
-
0028232414
-
Rett syndrome: Random X chromosome inactivation
-
Anvret M, Wahlstrom J (1994) Rett syndrome: random X chromosome inactivation. Clin Genet 45:274-275
-
(1994)
Clin Genet
, vol.45
, pp. 274-275
-
-
Anvret, M.1
Wahlstrom, J.2
-
3
-
-
0025183023
-
Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations
-
Anvret M, Wahlstrom J, Skogsberg P, Hagberg B (1990) Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations. Am J Med Genet 37:31-35
-
(1990)
Am J Med Genet
, vol.37
, pp. 31-35
-
-
Anvret, M.1
Wahlstrom, J.2
Skogsberg, P.3
Hagberg, B.4
-
4
-
-
0025736146
-
Rett syndrome: Exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
-
Archidiacono N, Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U, Romeo G (1991) Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet 86:604-606
-
(1991)
Hum Genet
, vol.86
, pp. 604-606
-
-
Archidiacono, N.1
Lerone, M.2
Rocchi, M.3
Anvret, M.4
Ozcelik, T.5
Francke, U.6
Romeo, G.7
-
5
-
-
0011838019
-
Further isolation, characterization, and physical location of X chromosome RFLP markers, comparing VNTR-directed and random isolation strategies
-
Barker DF, Dietz-Band JN, Donaldson CW, Anderson WL, Turco AE, Pole AR, Willard HF, et al (1989) Further isolation, characterization, and physical location of X chromosome RFLP markers, comparing VNTR-directed and random isolation strategies. Cytogenet Cell Genet 51:958
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 958
-
-
Barker, D.F.1
Dietz-Band, J.N.2
Donaldson, C.W.3
Anderson, W.L.4
Turco, A.E.5
Pole, A.R.6
Willard, H.F.7
-
6
-
-
0026345201
-
Difference in early development of presumed monozygotic twins with Rett syndrome
-
Bruck I, Philippart M, Giraldi D, Antoniuk S (1991) Difference in early development of presumed monozygotic twins with Rett syndrome. Am J Med Genet 39:415-417
-
(1991)
Am J Med Genet
, vol.39
, pp. 415-417
-
-
Bruck, I.1
Philippart, M.2
Giraldi, D.3
Antoniuk, S.4
-
7
-
-
0025265862
-
Another model for the inheritance of Rett syndrome
-
Buhler EM, Malik NJ, Alkan M (1990) Another model for the inheritance of Rett syndrome. Am J Med Genet 36:126-131
-
(1990)
Am J Med Genet
, vol.36
, pp. 126-131
-
-
Buhler, E.M.1
Malik, N.J.2
Alkan, M.3
-
8
-
-
0028284959
-
X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe
-
Camus P, Abbadi N, Gilgenkrantz S (1994) X inactivation in Rett syndrome: a preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe. Am J Med Genet 50:307-308
-
(1994)
Am J Med Genet
, vol.50
, pp. 307-308
-
-
Camus, P.1
Abbadi, N.2
Gilgenkrantz, S.3
-
9
-
-
0030021153
-
X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe
-
Camus P, Abbadi N, Perrier MC, Chery M, Gilgenkrantz S (1996) X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet 97:247-250
-
(1996)
Hum Genet
, vol.97
, pp. 247-250
-
-
Camus, P.1
Abbadi, N.2
Perrier, M.C.3
Chery, M.4
Gilgenkrantz, S.5
-
10
-
-
0023580403
-
A set of monozygotic twins with Rett syndrome
-
Coleman M, Naidu S, Murphy M, Pines M, Bias W (1987) A set of monozygotic twins with Rett syndrome. Brain Dev 9: 475-478
-
(1987)
Brain Dev
, vol.9
, pp. 475-478
-
-
Coleman, M.1
Naidu, S.2
Murphy, M.3
Pines, M.4
Bias, W.5
-
11
-
-
0022446695
-
The genetics of Rett syndrome: The consequences of a disorder where every case is a new mutation
-
Comings DE (1986) The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. Am J Med Genet Suppl 1:383-388
-
(1986)
Am J Med Genet Suppl
, vol.1
, pp. 383-388
-
-
Comings, D.E.1
-
12
-
-
0027480909
-
X chromosome linkage studies in familial Rett syndrome
-
Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S, Roustan P, et al (1993) X chromosome linkage studies in familial Rett syndrome. Hum Genet 90:551-555
-
(1993)
Hum Genet
, vol.90
, pp. 551-555
-
-
Curtis, A.R.1
Headland, S.2
Lindsay, S.3
Thomas, N.S.4
Boye, E.5
Kamakari, S.6
Roustan, P.7
-
13
-
-
0026567450
-
Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis
-
Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, et al (1992) Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 50:278-287
-
(1992)
Am J Hum Genet
, vol.50
, pp. 278-287
-
-
Ellison, K.A.1
Fill, C.P.2
Terwilliger, J.3
Degennaro, L.J.4
Martin-Gallardo, A.5
Anvret, M.6
Percy, A.K.7
-
14
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
-
15
-
-
0021815213
-
Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
-
Hagberg B (1985) Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 74:405-408
-
(1985)
Acta Paediatr Scand
, vol.74
, pp. 405-408
-
-
Hagberg, B.1
-
16
-
-
0026500205
-
Familial occurrence of Duchenne dystrophy through paternal lines in four families
-
Hunter A (1992) Familial occurrence of Duchenne dystrophy through paternal lines in four families. Am J Med Genet 42: 213
-
(1992)
Am J Med Genet
, vol.42
, pp. 213
-
-
Hunter, A.1
-
17
-
-
0028917439
-
Alterations in replication timing of X-chromosome bands in Rett syndrome
-
Kormann-Bortolotto MH, Webb T (1995) Alterations in replication timing of X-chromosome bands in Rett syndrome. J Intellect Disabil Res 39:91-96
-
(1995)
J Intellect Disabil Res
, vol.39
, pp. 91-96
-
-
Kormann-Bortolotto, M.H.1
Webb, T.2
-
19
-
-
0028902950
-
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome
-
Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S (1995) Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 56:647-653
-
(1995)
Am J Hum Genet
, vol.56
, pp. 647-653
-
-
Migeon, B.R.1
Dunn, M.A.2
Thomas, G.3
Schmeckpeper, B.J.4
Naidu, S.5
-
20
-
-
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
-
21
-
-
0000981498
-
Report of the Sixth International Workshop on X Chromosome Mapping 1995
-
Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D (1995) Report of the Sixth International Workshop on X Chromosome Mapping 1995. Cytogenet Cell Genet 71: 308-336
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 308-336
-
-
Nelson, D.L.1
Ballabio, A.2
Cremers, F.3
Monaco, A.P.4
Schlessinger, D.5
-
22
-
-
23444458594
-
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
-
Pegoraro E, Schimke RN, Arahata 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
Arahata, K.3
Hayashi, Y.4
Stern, H.5
Marks, H.6
Glasberg, M.R.7
-
23
-
-
0014011176
-
Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter
-
Rett A (1966) Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Med Wochenschr 116:723-738
-
(1966)
Wien Med Wochenschr
, vol.116
, pp. 723-738
-
-
Rett, A.1
-
24
-
-
0023888966
-
Diagnostic criteria for Rett syndrome
-
Rett Syndrome Diagnostic Criteria Work Group, The (1988) Diagnostic criteria for Rett syndrome. Ann Neurol 23:425-428
-
(1988)
Ann Neurol
, vol.23
, pp. 425-428
-
-
-
25
-
-
0022472404
-
The Rett syndrome: Genetics and future
-
Riccardi VM (1986) The Rett syndrome: genetics and future. Am J Med Genet 24:389-402
-
(1986)
Am J Med Genet
, vol.24
, pp. 389-402
-
-
Riccardi, V.M.1
-
26
-
-
0026669809
-
A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome
-
Rivkin MJ, Ye Z, Mannheim GB, Darras BT (1992) A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev 14:273-275
-
(1992)
Brain Dev
, vol.14
, pp. 273-275
-
-
Rivkin, M.J.1
Ye, Z.2
Mannheim, G.B.3
Darras, B.T.4
-
28
-
-
0023318937
-
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes
-
Simmler MC, Johnsson C, Petit C, Rouyer F, Vergnaud G, Weissenbach J (1987) Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes. EMBO J 6:963-969
-
(1987)
EMBO J
, vol.6
, pp. 963-969
-
-
Simmler, M.C.1
Johnsson, C.2
Petit, C.3
Rouyer, F.4
Vergnaud, G.5
Weissenbach, J.6
-
29
-
-
0030009791
-
High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
-
Thomas GH (1996) High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 58:1364-1368
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1364-1368
-
-
Thomas, G.H.1
-
30
-
-
0027504330
-
Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome
-
Webb T, Watkiss E, Woods CG (1993) Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome. Clin Genet 44:236-240
-
(1993)
Clin Genet
, vol.44
, pp. 236-240
-
-
Webb, T.1
Watkiss, E.2
Woods, C.G.3
-
31
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, et al (1992) A second-generation linkage map of the human genome. Nature 359:794-801
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morissette, J.5
Millasseau, P.6
Vaysseix, G.7
-
33
-
-
0023797483
-
Genetic aspects of Rett syndrome
-
Zoghbi H (1988) Genetic aspects of Rett syndrome. J Child Neurol Suppl 3:S76-S78
-
(1988)
J Child Neurol Suppl
, vol.3
-
-
Zoghbi, H.1
-
34
-
-
0025305473
-
Patterns of X chromosome inactivation in the Rett syndrome
-
Zoghbi HY, Percy AK, Schultz RJ, Fill C (1990) Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 12:131-135
-
(1990)
Brain Dev
, vol.12
, pp. 131-135
-
-
Zoghbi, H.Y.1
Percy, A.K.2
Schultz, R.J.3
Fill, C.4
|