-
1
-
-
0038253709
-
Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six
-
Hutchinson J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1886;1:923
-
(1886)
Lancet
, vol.1
, pp. 923
-
-
Hutchinson, J.1
-
2
-
-
0037578194
-
Ateleiosis and progeria: Continuous youth and premature old age
-
Gilford H. Ateleiosis and progeria: continuous youth and premature old age. Brit Medical J 1904;2:914-918
-
(1904)
Brit Medical J
, vol.2
, pp. 914-918
-
-
Gilford, H.1
-
3
-
-
10744229294
-
Lamin a truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003;300(5628):2055
-
(2003)
Science
, vol.300
, Issue.5628
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
-
4
-
-
0037673950
-
Recurrent de novo point mutations in lamin a cause Hutchinson-Gilford progeria syndrome
-
Eriksson M, Brown WT, Cordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423(6937):293-8
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Cordon, L.B.3
-
5
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21(3):285-8
-
(1999)
Nat Genet
, vol.21
, Issue.3
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
6
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
Raffaele Di Barletta M, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000;66(4):1407-12
-
(2000)
Am J Hum Genet
, vol.66
, Issue.4
, pp. 1407-1412
-
-
Raffaele Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
-
7
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9(9):1453-9
-
(2000)
Hum Mol Genet
, vol.9
, Issue.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van Der Kooi, A.J.3
-
8
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999;341(23):1715-24
-
(1999)
N Engl J Med
, vol.341
, Issue.23
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
-
9
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
-
De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002;70(3):726-36
-
(2002)
Am J Hum Genet
, vol.70
, Issue.3
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
-
10
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton S, Lloyd DJ, Jackson SN, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000;24(2):153-6
-
(2000)
Nat Genet
, vol.24
, Issue.2
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
-
11
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002;71(2):426-31
-
(2002)
Am J Hum Genet
, vol.71
, Issue.2
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
-
12
-
-
0037342243
-
A new clinical condition linked to a novel mutation in lamins a and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
-
Caux F, Dubosclard E, Lascols O, et al. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 2003;88(3):1006-13
-
(2003)
J Clin Endocrinol Metab
, vol.88
, Issue.3
, pp. 1006-1013
-
-
Caux, F.1
Dubosclard, E.2
Lascols, O.3
-
13
-
-
0042736696
-
LMNA mutations in atypical Werner's syndrome
-
Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner's syndrome. Lancet 2003;362(9382):440-5
-
(2003)
Lancet
, vol.362
, Issue.9382
, pp. 440-445
-
-
Chen, L.1
Lee, L.2
Kudlow, B.A.3
-
14
-
-
0037183491
-
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
-
van der Kooi AJ, Bonne C, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002;59(4):620-3
-
(2002)
Neurology
, vol.59
, Issue.4
, pp. 620-623
-
-
Kooi, A.J.1
Bonne, C.2
Eymard, B.3
-
15
-
-
0036098280
-
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
-
Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med 2002;112(7):549-55
-
(2002)
Am J Med
, vol.112
, Issue.7
, pp. 549-555
-
-
Garg, A.1
Speckman, R.A.2
Bowcock, A.M.3
-
16
-
-
2942608209
-
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
-
Goizet C, Yaou RB, Demay L, et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet 2004;41(3):e29
-
(2004)
J Med Genet
, vol.41
, Issue.3
-
-
Goizet, C.1
Yaou, R.B.2
Demay, L.3
-
17
-
-
0042164479
-
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, the Netherlands
-
Bonne G, Yaou RB, Beroud C, et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003;13(6):508-15
-
(2003)
Neuromuscul Disord
, vol.13
, Issue.6
, pp. 508-515
-
-
Bonne, G.1
Yaou, R.B.2
Beroud, C.3
-
18
-
-
0342545408
-
UMD (Universal mutation database): A generic software to build and analyze locus-specific databases
-
Beroud C, Collod-Beroud G, Boileau C, et al. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 2000;15(1):86-94
-
(2000)
Hum Mutat
, vol.15
, Issue.1
, pp. 86-94
-
-
Beroud, C.1
Collod-Beroud, G.2
Boileau, C.3
-
19
-
-
0036843975
-
Lamins: Building blocks or regulators of gene expression?
-
Hutchison CJ. Lamins: building blocks or regulators of gene expression? Nat Rev Mol Cell Biol 2002;3(11):848-58
-
(2002)
Nat Rev Mol Cell Biol
, vol.3
, Issue.11
, pp. 848-858
-
-
Hutchison, C.J.1
-
20
-
-
0034864629
-
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
-
Sewry CA, Brown SC, Mercuri E, et al. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 2001;27(4):281-90
-
(2001)
Neuropathol Appl Neurobiol
, vol.27
, Issue.4
, pp. 281-290
-
-
Sewry, C.A.1
Brown, S.C.2
Mercuri, E.3
-
21
-
-
0035691915
-
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene
-
Vigouroux C, Audair M, Dubosclard E, et al. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J Cell Sci 2001;114(Pt 24):4459-68
-
(2001)
J Cell Sci
, vol.114
, Issue.PART 24
, pp. 4459-4468
-
-
Vigouroux, C.1
Audair, M.2
Dubosclard, E.3
-
22
-
-
0344309291
-
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
-
Muchir A, van Engelen BG, Lammens M, et al. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res 2003;291(2):352-62
-
(2003)
Exp Cell Res
, vol.291
, Issue.2
, pp. 352-362
-
-
Muchir, A.1
Van Engelen, B.G.2
Lammens, M.3
-
23
-
-
4644222709
-
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy and partial lipodystrophy carrying lamin A/C gene mutations
-
in press
-
Muchir A, Medioni J, Laluc M, et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy and partial lipodystrophy carrying lamin A/C gene mutations. Muscle and Nerve, in press
-
Muscle and Nerve
-
-
Muchir, A.1
Medioni, J.2
Laluc, M.3
-
24
-
-
18444382032
-
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
-
Krimm I, Ostlund C, Gilquin B, et al. The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure (Camb) 2002;10(6):811-23
-
(2002)
Structure (Camb)
, vol.10
, Issue.6
, pp. 811-823
-
-
Krimm, I.1
Ostlund, C.2
Gilquin, B.3
-
25
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan T, Escalante-Alcalde D, Bhatt H, et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999;147(5):913-20
-
(1999)
J Cell Biol
, vol.147
, Issue.5
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
-
26
-
-
0037673940
-
A progeroid syndrome in mice is caused by defects in A-type lamins
-
Mounkes LC, Kozlov S, Hernandez L, et al. A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 2003;423(6937):298-301
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 298-301
-
-
Mounkes, L.C.1
Kozlov, S.2
Hernandez, L.3
-
27
-
-
0004157474
-
-
New York, Wiley-Liss
-
Royce PM, Steinmann B: Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 2nd e. New York, Wiley-Liss, 2002
-
(2002)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 2nd E.
-
-
Royce, P.M.1
Steinmann, B.2
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