-
3
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.2
-
4
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
(2000)
Nat. Genet.
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
Evans, R.4
Niermeijer, M.F.5
Singh, B.M.6
Schmidt, H.7
Brabant, G.8
Kumar, S.9
Durrington, P.N.10
Gregory, S.11
O'Rahilly, S.12
Trembath, R.C.13
-
5
-
-
0033912260
-
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1192-1198
-
-
Speckman, R.1
Garg, A.2
Du, F.3
Bennett, L.4
Veile, R.5
Arioglu, E.6
Schmidt, H.-J.7
Taylor, S.8
Lovett, M.9
Bowcock, A.10
-
9
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
(1999)
Nat. Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Barletta, M.2
Varnous, S.3
Becane, H.-M.4
Hammouda, E.-H.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.8
Gary, F.9
Urtizberea, J.-A.10
Duboc, D.11
Fardeau, M.12
Toniolo, D.13
Schwartz, K.14
-
10
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1407-1412
-
-
Raffaele Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
Romorini, A.7
Voit, T.8
Orstavik, K.H.9
Merlini, L.10
Trevisan, C.11
Biancalana, V.12
Housmanowa-Petrusewicz, I.13
Bione, S.14
Ricotti, R.15
Schwartz, K.16
Bonne, G.17
Toniolo, D.18
-
12
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
(2000)
Ann. Neurol.
, vol.48
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
Merlini, L.7
Wehnert, M.8
Boor, R.9
Reuner, U.10
Vorgerd, M.11
Wicklein, E.M.12
Eymard, B.13
Duboc, D.14
Penisson-Besnier, I.15
Cuisset, J.M.16
Ferrer, X.17
Desguerre, I.18
Lacombe, D.19
Bushby, K.20
Pollitt, C.21
Toniolo, D.22
Fardeau, M.23
Schwartz, K.24
Muntoni, F.25
more..
-
13
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.4
Porcu, M.5
Frenneaux, M.6
Atherton, J.7
Vidaillet, H.8
Spudich, S.9
Girolami, U.10
Seidman, J.11
Seidman, C.12
-
15
-
-
0034266107
-
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene
-
(2000)
Hum. Mutat.
, vol.16
, pp. 278
-
-
Genschel, J.1
Baier, P.2
Kuepferling, S.3
Proepsting, M.J.4
Buettner, C.5
Ewert, R.6
Hetzer, R.7
Lochs, H.8
Schmidt, H.H.9
-
21
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
(1999)
J. Cell Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
23
-
-
0019861360
-
Insulin-stimulated translocation of glucose transport systems in the isolated rat adipose cell. Time course, reversal, insulin concentration dependency, and relationship to glucose transport activity
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 4772-4777
-
-
Karnieli, E.1
Zarnowski, M.J.2
Hissin, P.J.3
Simpson, I.A.4
Salans, L.B.5
Cushman, S.W.6
-
25
-
-
0024561417
-
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: A developmental study
-
(1989)
Development
, vol.105
, pp. 365-378
-
-
Rober, R.A.1
Weber, K.2
Osborn, M.3
-
26
-
-
0034455698
-
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 1776-1782
-
-
Garg, A.1
-
27
-
-
0033755274
-
Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
-
(2000)
Diabetes
, vol.49
, pp. 1958-1962
-
-
Vigouroux, C.1
Magre, J.2
Vantyghem, M.C.3
Bourut, C.4
Lascols, O.5
Shackleton, S.6
Lloyd, D.J.7
Guerci, B.8
Padova, G.9
Valensi, P.10
Grimaldi, A.11
Piquemal, R.12
Touraine, P.13
Trembath, R.C.14
Capeau, J.15
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