-
2
-
-
0021908106
-
X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq
-
Gal A, Mucke J, Theile H, Wieacker PP, Ropers HH, Wienker TF. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 1985;70:38-42.
-
(1985)
Hum Genet
, vol.70
, pp. 38-42
-
-
Gal, A.1
Mucke, J.2
Theile, H.3
Wieacker, P.P.4
Ropers, H.H.5
Wienker, T.F.6
-
3
-
-
0022874772
-
Localization of X-linked dominant Charcot-Marie-Tooth disease to Xq13.1
-
Beckett J, Holden NE, Simpson BN, White BN, MacLeod PM. Localization of X-linked dominant Charcot-Marie-Tooth disease to Xq13.1. J Neurogenet 1986;3:225-231.
-
(1986)
J Neurogenet
, vol.3
, pp. 225-231
-
-
Beckett, J.1
Holden, N.E.2
Simpson, B.N.3
White, B.N.4
MacLeod, P.M.5
-
4
-
-
0022514979
-
X-linked neuropathy: Gene localization with DNA probes
-
Fischbeck KH, Ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP. X-linked neuropathy: gene localization with DNA probes. Ann Neurol 1986;20:527-532.
-
(1986)
Ann Neurol
, vol.20
, pp. 527-532
-
-
Fischbeck, K.H.1
Ar-Rushdi, N.2
Pericak-Vance, M.3
Rozear, M.4
Roses, A.D.5
Fryns, J.P.6
-
5
-
-
0023758255
-
A linkage study of the locus for X-linked Charcot-Marie-Tooth disease
-
Goonewardena P, Welinhinda J, Anvret M, et al. A linkage study of the locus for X-linked Charcot-Marie-Tooth disease. Clin Genet 1988;33:435-440.
-
(1988)
Clin Genet
, vol.33
, pp. 435-440
-
-
Goonewardena, P.1
Welinhinda, J.2
Anvret, M.3
-
6
-
-
0023708417
-
X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family: Genetic linkage study
-
Ionasescu V, Burns TL, Searby Ch, Ionasescu R. X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family: genetic linkage study. Muscle Nerve 1988;11:1154-1156.
-
(1988)
Muscle Nerve
, vol.11
, pp. 1154-1156
-
-
Ionasescu, V.1
Burns, T.L.2
Searby, Ch.3
Ionasescu, R.4
-
7
-
-
0026609592
-
Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Trofatter J, Haines JL, Ionasescu R, Searby Ch. Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1992;42:903-908.
-
(1992)
Neurology
, vol.42
, pp. 903-908
-
-
Ionasescu, V.1
Trofatter, J.2
Haines, J.L.3
Ionasescu, R.4
Searby, Ch.5
-
8
-
-
0024375182
-
Linkage in a family with X-linked Charcot-Marie-Tooth disease
-
Haites N, Fairweather N, Clark C, Kelly KF, Simpson S, Johnston AW. Linkage in a family with X-linked Charcot-Marie-Tooth disease. Clin Genet 1989;35:399-403.
-
(1989)
Clin Genet
, vol.35
, pp. 399-403
-
-
Haites, N.1
Fairweather, N.2
Clark, C.3
Kelly, K.F.4
Simpson, S.5
Johnston, A.W.6
-
9
-
-
0025731521
-
X-linked Charcot-Marie-Tooth disease: A linkage study in a large family using 12 probes of the pericentromeric region
-
Mostacciuolo ML, Miller E, Fardin P, et al. X-linked Charcot-Marie-Tooth disease: a linkage study in a large family using 12 probes of the pericentromeric region. Hum Genet 1991;87: 23-27.
-
(1991)
Hum Genet
, vol.87
, pp. 23-27
-
-
Mostacciuolo, M.L.1
Miller, E.2
Fardin, P.3
-
10
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Sherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262: 2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Sherer, S.S.2
Wang, S.3
-
11
-
-
0028088839
-
Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Searby Ch, Ionasescu R. Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 1994;2:355-358.
-
(1994)
Hum Mol Genet
, vol.2
, pp. 355-358
-
-
Ionasescu, V.1
Searby, Ch.2
Ionasescu, R.3
-
12
-
-
0028014579
-
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease
-
Fairweather N, Bell C, Cochrane S, et al. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease. Hum Mol Genet 1994;3:29-34.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 29-34
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
-
13
-
-
0020480189
-
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes
-
Kunkel LM, Tantravahi U, Eisenhard M, Latt SA. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res 1982;10:1557-1578.
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 1557-1578
-
-
Kunkel, L.M.1
Tantravahi, U.2
Eisenhard, M.3
Latt, S.A.4
-
16
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
Bruzzone R, White TW, Sherer SS, Fischbeck KH, Paul DL. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 1994;13:1253-1260.
-
(1994)
Neuron
, vol.13
, pp. 1253-1260
-
-
Bruzzone, R.1
White, T.W.2
Sherer, S.S.3
Fischbeck, K.H.4
Paul, D.L.5
-
17
-
-
0029035158
-
Use of alternate promoters for tissue-specific expression of the gene coding for connexin 32
-
Neuhaus IM, Dahl G, Werner R. Use of alternate promoters for tissue-specific expression of the gene coding for connexin 32. Gene 1995;158:257-262.
-
(1995)
Gene
, vol.158
, pp. 257-262
-
-
Neuhaus, I.M.1
Dahl, G.2
Werner, R.3
-
18
-
-
0028073907
-
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
-
Suter U, Jackson Snipes G, Schoener-Scott R, et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 1994;269:25795-25808.
-
(1994)
J Biol Chem
, vol.269
, pp. 25795-25808
-
-
Suter, U.1
Jackson Snipes, G.2
Schoener-Scott, R.3
-
19
-
-
0026586482
-
Two novel beta-thalassaemia mutations in the 5′ and 3′ noncoding regions of the beta-globin gene
-
Cai SP, Eng B, Francombe WH, et al. Two novel beta-thalassaemia mutations in the 5′ and 3′ noncoding regions of the beta-globin gene. Blood 1992;79:1342-1346.
-
(1992)
Blood
, vol.79
, pp. 1342-1346
-
-
Cai, S.P.1
Eng, B.2
Francombe, W.H.3
-
20
-
-
0028014413
-
A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon
-
Davidson BL, Golovoy N, Roessler BJ. A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon. Hum Genet 1994;93:300-304.
-
(1994)
Hum Genet
, vol.93
, pp. 300-304
-
-
Davidson, B.L.1
Golovoy, N.2
Roessler, B.J.3
|