-
1
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivellan S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 8: 323-327.
-
(1994)
Nature Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivellan, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
2
-
-
0028865862
-
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
-
Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren ST, Toniolo D (1995) Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Molec Genet 4: 1859-1863.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 1859-1863
-
-
Bione, S.1
Small, K.2
Aksmanovic, V.M.A.3
D'Urso, M.4
Ciccodicola, A.5
Merlini, L.6
Morandi, L.7
Kress, W.8
Yates, J.R.W.9
Warren, S.T.10
Toniolo, D.11
-
3
-
-
0026682853
-
Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RCGP) genes, proximal to factor VIII
-
Cole CG, Abbs SJ, Dubowitz V, Hodgson SV, Warner J, Merlini L, Bobrow M (1992) Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RCGP) genes, proximal to factor VIII. Neuromusc Disord 2: 51-57.
-
(1992)
Neuromusc Disord
, vol.2
, pp. 51-57
-
-
Cole, C.G.1
Abbs, S.J.2
Dubowitz, V.3
Hodgson, S.V.4
Warner, J.5
Merlini, L.6
Bobrow, M.7
-
4
-
-
0026079202
-
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study
-
Conzales GG, Thomas NST, Stayton CL, Knight SJL, Johnson M, Hopkins LC, Harper P, Elsas LJ, Warren ST (1991) Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study. Am J Hum Genet 48: 468-480.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 468-480
-
-
Conzales, G.G.1
Thomas, N.S.T.2
Stayton, C.L.3
Knight, S.J.L.4
Johnson, M.5
Hopkins, L.C.6
Harper, P.7
Elsas, L.J.8
Warren, S.T.9
-
6
-
-
0024419522
-
Emery-Dreifuss syndrome
-
Emery AEH (1989) Emery-Dreifuss syndrome. J Med Genet 26: 637-641.
-
(1989)
J Med Genet
, vol.26
, pp. 637-641
-
-
Emery, A.E.H.1
-
8
-
-
3042867051
-
Haemophilia B: A database of point mutations and short additions and deletions
-
Gianelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG (1996) Haemophilia B: A database of point mutations and short additions and deletions. Nucleic Acid Res 24: 103-118.
-
(1996)
Nucleic Acid Res
, vol.24
, pp. 103-118
-
-
Gianelli, F.1
Green, P.M.2
Sommer, S.S.3
Poon, M.C.4
Ludwig, M.5
Schwaab, R.6
Reitsma, P.H.7
Goossens, M.8
Yoshioka, A.9
Brownlee, G.G.10
-
9
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31: 317-326.
-
(1935)
J Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
10
-
-
0028892092
-
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
-
Klauck SM, Wilgenbus P, JRW Yates, Müller CR, Poustka A (1995) Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Molec Genet 4: 1853-1857.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 1853-1857
-
-
Klauck, S.M.1
Wilgenbus, P.2
Yates, J.R.W.3
Müller, C.R.4
Poustka, A.5
-
11
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
Manilal S, thi Man N, Sewry CA, Morris GE (1996). The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5:
-
(1996)
Hum Mol Genet
, vol.5
-
-
Manilal, S.1
Thi Man, N.2
Sewry, C.A.3
Morris, G.E.4
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16: 1215.
-
(1988)
Nucleic Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
14
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada S, Okada R, Hayashi YK, Tsukahara T, Arahata K (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12: 254-259.
-
(1996)
Nat Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, S.5
Okada, R.6
Hayashi, Y.K.7
Tsukahara, T.8
Arahata, K.9
-
15
-
-
0028892101
-
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
-
Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M (1995) SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function. Hum Molec Genet 4: 2003-2004.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
Politano, L.4
Nigro, G.5
Piluso, G.6
Cappa, V.7
Covone, A.E.8
Romeo, G.9
D'Urso, M.10
-
16
-
-
0026549893
-
Detecting single base substitutions as heteroduplex polymorphisms
-
White MB, Carvalho M, Derse D, O'Brien SJ, Dean M (1992) Detecting single base substitutions as heteroduplex polymorphisms. Genomics 12: 301-306.
-
(1992)
Genomics
, vol.12
, pp. 301-306
-
-
White, M.B.1
Carvalho, M.2
Derse, D.3
O'Brien, S.J.4
Dean, M.5
-
17
-
-
85080515331
-
Mutation analysis in Emery-Dreifuss muscular dystrophy
-
Yates J, Aksmanovic V, McMahon R, Bione S, Toniolo D (1996) Mutation analysis in Emery-Dreifuss muscular dystrophy. Eur J Hum Genet 4 Suppl 1: 62-63.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.1 SUPPL.
, pp. 62-63
-
-
Yates, J.1
Aksmanovic, V.2
McMahon, R.3
Bione, S.4
Toniolo, D.5
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