-
1
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin F., and Worman H.J. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268 (1993) 16321-16326
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
2
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21 (1999) 285-288
-
(1999)
Nat. Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
3
-
-
34249788998
-
Laminopathies": a wide spectrum of human diseases
-
Worman H.J., and Bonne G. Laminopathies": a wide spectrum of human diseases. Exp. Cell. Res. 313 (2007) 2121-2133
-
(2007)
Exp. Cell. Res.
, vol.313
, pp. 2121-2133
-
-
Worman, H.J.1
Bonne, G.2
-
5
-
-
0037420074
-
Familial Dilated Cardiomyopathy Registry Research Group. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
-
Taylor M.R., Fain P.R., Sinagra G., et al. Familial Dilated Cardiomyopathy Registry Research Group. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J. Am. Coll. Cardiol. 41 (2003) 771-780
-
(2003)
J. Am. Coll. Cardiol.
, vol.41
, pp. 771-780
-
-
Taylor, M.R.1
Fain, P.R.2
Sinagra, G.3
-
6
-
-
1542437955
-
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
-
Vytopil M., Benedetti S., Ricci E., et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J. Med. Genet. 40 (2003) e132
-
(2003)
J. Med. Genet.
, vol.40
-
-
Vytopil, M.1
Benedetti, S.2
Ricci, E.3
-
7
-
-
17044418007
-
Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography
-
Taylor M.R., Robinson M.L., and Mestroni L. Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography. J. Biomol. Screen. 9 (2004) 625-628
-
(2004)
J. Biomol. Screen.
, vol.9
, pp. 625-628
-
-
Taylor, M.R.1
Robinson, M.L.2
Mestroni, L.3
-
8
-
-
33645224459
-
Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy
-
Kärkkäinen S., Reissell E., Heliö T., et al. Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. Heart 92 (2006) 524-526
-
(2006)
Heart
, vol.92
, pp. 524-526
-
-
Kärkkäinen, S.1
Reissell, E.2
Heliö, T.3
-
9
-
-
33847683879
-
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans
-
Song K., Dubé M.P., Lim J., Hwang I., Lee I., and Kim J.J. Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. Exp. Mol. Med. 39 (2007) 114-120
-
(2007)
Exp. Mol. Med.
, vol.39
, pp. 114-120
-
-
Song, K.1
Dubé, M.P.2
Lim, J.3
Hwang, I.4
Lee, I.5
Kim, J.J.6
-
10
-
-
36148933389
-
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
-
van Tintelen J.P., Hofstra R.M., Katerberg H., et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am. Heart. J. 154 (2007) 1130-1139
-
(2007)
Am. Heart. J.
, vol.154
, pp. 1130-1139
-
-
van Tintelen, J.P.1
Hofstra, R.M.2
Katerberg, H.3
-
11
-
-
45649083874
-
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
-
Parks S.B., Kushner J.D., Nauman D., et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am. Heart. J. 156 (2008) 161-169
-
(2008)
Am. Heart. J.
, vol.156
, pp. 161-169
-
-
Parks, S.B.1
Kushner, J.D.2
Nauman, D.3
-
12
-
-
18344380431
-
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease
-
Arbustini E., Pilotto A., Repetto A., et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J. Am. Coll. Cardiol. 39 (2002) 981-990
-
(2002)
J. Am. Coll. Cardiol.
, vol.39
, pp. 981-990
-
-
Arbustini, E.1
Pilotto, A.2
Repetto, A.3
-
13
-
-
34250658870
-
High-resolution DNA melting analysis for simple and efficient molecular diagnostics
-
Reed G.H., Kent J.O., and Wittwer C.T. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8 (2007) 597-608
-
(2007)
Pharmacogenomics
, vol.8
, pp. 597-608
-
-
Reed, G.H.1
Kent, J.O.2
Wittwer, C.T.3
-
14
-
-
0032934453
-
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy
-
Mestroni L., Maisch B., McKenna W.J., et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur. Heart. J. 20 (1999) 93-102
-
(1999)
Eur. Heart. J.
, vol.20
, pp. 93-102
-
-
Mestroni, L.1
Maisch, B.2
McKenna, W.J.3
-
15
-
-
36849071396
-
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome
-
Decaudain A., Vantyghem M.C., Guerci B., et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J. Clin. Endocrinol. Metab. 92 (2007) 4835-4844
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 4835-4844
-
-
Decaudain, A.1
Vantyghem, M.C.2
Guerci, B.3
-
16
-
-
0042327845
-
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
-
Sébillon P., Bouchier C., Bidot L.D., et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J. Med. Genet. 40 (2003) 560-567
-
(2003)
J. Med. Genet.
, vol.40
, pp. 560-567
-
-
Sébillon, P.1
Bouchier, C.2
Bidot, L.D.3
-
17
-
-
33747169099
-
Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers
-
Perrot A., Sigusch H.H., Nägele H., et al. Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers. Eur. J. Heart. Fail. 8 (2006) 484-493
-
(2006)
Eur. J. Heart. Fail.
, vol.8
, pp. 484-493
-
-
Perrot, A.1
Sigusch, H.H.2
Nägele, H.3
-
18
-
-
0037405331
-
Functional consequences of an LMNA mutation associated with a new cardiac and non cardiac phenotype
-
Charniot J.C., Pascal C., Bouchier C., et al. Functional consequences of an LMNA mutation associated with a new cardiac and non cardiac phenotype. Hum. Mutat. 21 (2003) 473-481
-
(2003)
Hum. Mutat.
, vol.21
, pp. 473-481
-
-
Charniot, J.C.1
Pascal, C.2
Bouchier, C.3
-
19
-
-
33646384920
-
Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study
-
Charniot J.C., Desnos M., Zerhouni K., et al. Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study. Eur. J. Heart. Fail. 8 (2006) 249-256
-
(2006)
Eur. J. Heart. Fail.
, vol.8
, pp. 249-256
-
-
Charniot, J.C.1
Desnos, M.2
Zerhouni, K.3
-
20
-
-
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 A.J., 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. 9 (2000) 1453-1459
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
van der Kooi, A.J.3
-
21
-
-
0025352896
-
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
-
Heald R., and McKeon F. Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell 61 (1990) 579-589
-
(1990)
Cell
, vol.61
, pp. 579-589
-
-
Heald, R.1
McKeon, F.2
-
22
-
-
61849114345
-
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by High Resolution Melting Analysis
-
in press
-
Millat G., Chanavat V., Rodriguez-Lafrasse C., and Rousson R. Rapid, sensitive and inexpensive detection of SCN5A genetic variations by High Resolution Melting Analysis. Clin. Biochem. (2008) in press
-
(2008)
Clin. Biochem.
-
-
Millat, G.1
Chanavat, V.2
Rodriguez-Lafrasse, C.3
Rousson, R.4
-
23
-
-
46249098884
-
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
-
Lin S.Y., Su Y.N., Hung C.C., et al. Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC. Med. Genet. 9 (2008) 53
-
(2008)
BMC. Med. Genet.
, vol.9
, pp. 53
-
-
Lin, S.Y.1
Su, Y.N.2
Hung, C.C.3
-
24
-
-
45549092891
-
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis
-
Sestini R., Provenzano A., Bacci C., et al. NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet. Test. 12 (2008) 311-318
-
(2008)
Genet. Test.
, vol.12
, pp. 311-318
-
-
Sestini, R.1
Provenzano, A.2
Bacci, C.3
-
25
-
-
52249092845
-
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Audrezet M.P., Dabricot A., Le Marechal C., and Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J. Mol. Diagn. 10 (2008) 424-434
-
(2008)
J. Mol. Diagn.
, vol.10
, pp. 424-434
-
-
Audrezet, M.P.1
Dabricot, A.2
Le Marechal, C.3
Ferec, C.4
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