-
1
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein, D. and Risch, N. (2003) Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33 (Suppl.), 228-237
-
(2003)
Nat. Genet.
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
2
-
-
0037180505
-
An allelic series of mutations in Smad2 and Smad4 identified in a genotype-based screen of N-ethyl-N-nitrosourea-mutagenized mouse embryonic stem cells
-
Vivian, J.L. et al. (2002) An allelic series of mutations in Smad2 and Smad4 identified in a genotype-based screen of N-ethyl-N-nitrosourea-mutagenized mouse embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A. 99, 15542-15547
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 15542-15547
-
-
Vivian, J.L.1
-
3
-
-
0037277457
-
Interallelic complementation at the mouse Mitf locus
-
Steingrimsson, E. et al. (2002) Interallelic complementation at the mouse Mitf locus. Genetics 163, 267-276
-
(2002)
Genetics
, vol.163
, pp. 267-276
-
-
Steingrimsson, E.1
-
4
-
-
0029900307
-
Bone dysplasias in man: Molecular insights
-
Francomano, C.A. et al. (1996) Bone dysplasias in man: molecular insights. Curr. Opin. Genet. Dev. 6, 301-308
-
(1996)
Curr. Opin. Genet. Dev.
, vol.6
, pp. 301-308
-
-
Francomano, C.A.1
-
5
-
-
0036096302
-
Mutations in the p53 homolog p63: Allele-specific developmental syndromes in humans
-
van Bokoven, H. and McKeon, F. (2002) Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans. Trends Mol. Med. 8, 133-139
-
(2002)
Trends Mol. Med.
, vol.8
, pp. 133-139
-
-
Van Bokoven, H.1
McKeon, F.2
-
6
-
-
0036086127
-
Molecular diagnosis of cystic fibrosis
-
Shrimpton, A.E. (2002) Molecular diagnosis of cystic fibrosis. Mol. Diagn. 2, 240-256
-
(2002)
Mol. Diagn.
, vol.2
, pp. 240-256
-
-
Shrimpton, A.E.1
-
7
-
-
0031881532
-
Lumping and splitting: Molecular biology in the genetics clinic
-
Biesecker, L.G. (1998) Lumping and splitting: molecular biology in the genetics clinic. Clin. Genet. 53, 3-7
-
(1998)
Clin. Genet.
, vol.53
, pp. 3-7
-
-
Biesecker, L.G.1
-
8
-
-
85031063630
-
Genetics of ageing
-
(Reeve, E.C.R., ed.), Fitzroy Dearborn, London, UK
-
Promislow, D.E.L. and Kithgow, G.J. (2001) Genetics of ageing. In Encyclopedia of Genetics (Reeve, E.C.R., ed.), pp. 577-590, Fitzroy Dearborn, London, UK
-
(2001)
Encyclopedia of Genetics
, pp. 577-590
-
-
Promislow, D.E.L.1
Kithgow, G.J.2
-
9
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson, M. et al. (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298
-
(2003)
Nature
, vol.423
, pp. 293-298
-
-
Eriksson, M.1
-
10
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli, A. et al. (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science 300, 2055
-
(2003)
Science
, vol.300
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
-
11
-
-
0038376023
-
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
-
Cao, H. and Hegele, R.A. (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 48, 271-274
-
(2003)
J. Hum. Genet.
, vol.48
, pp. 271-274
-
-
Cao, H.1
Hegele, R.A.2
-
12
-
-
0037673940
-
A progeroid syndrome in mice is caused by defects in A-type lamins
-
Mounkes, L.C. et al. (2003) A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 423, 298-301
-
(2003)
Nature
, vol.423
, pp. 298-301
-
-
Mounkes, L.C.1
-
13
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C
-
Novelli, G. et al. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C. Am. J. Hum. Genet. 71, 426-431
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 426-431
-
-
Novelli, G.1
-
14
-
-
0036791026
-
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
-
Bergo, M.O. et al. (2002) Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc. Natl. Acad. Sci. U. S. A. 99, 13049-13054
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 13049-13054
-
-
Bergo, M.O.1
-
15
-
-
0034176682
-
The nuclear envelope, muscular dystrophy and gene expression
-
Wilson, K.L. (2000) The nuclear envelope, muscular dystrophy and gene expression. Trends Cell Biol. 10, 125-129
-
(2000)
Trends Cell Biol.
, vol.10
, pp. 125-129
-
-
Wilson, K.L.1
-
16
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao, H. and Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9, 109-112
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
17
-
-
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. et al. (2003) 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. 88, 1006-1013
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 1006-1013
-
-
Caux, F.1
-
18
-
-
0037405331
-
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype
-
Charniot, J.C. et al. (2003) Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Hum. Mutat. 21, 473-481
-
(2003)
Hum. Mutat.
, vol.21
, pp. 473-481
-
-
Charniot, J.C.1
-
19
-
-
0036347096
-
Life at the edge: The nuclear envelope and human disease
-
Burke, B. and Stewart, C.L. (2002) Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 3, 575-585
-
(2002)
Nat. Rev. Mol. Cell Biol.
, vol.3
, pp. 575-585
-
-
Burke, B.1
Stewart, C.L.2
-
20
-
-
0038333530
-
The carboxyl-terminal region common to lamins A and C contains a DNA binding domain
-
Stierle, V. et al. (2003) The carboxyl-terminal region common to lamins A and C contains a DNA binding domain. Biochemistry 42, 4819-4828
-
(2003)
Biochemistry
, vol.42
, pp. 4819-4828
-
-
Stierle, V.1
-
21
-
-
0036848357
-
In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C
-
Dreuillet, C. et al. (2002) In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res. 30, 4634-4642
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 4634-4642
-
-
Dreuillet, C.1
-
22
-
-
0037447893
-
Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells
-
Bechert, K. et al. (2003) Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. Exp. Cell Res. 286, 75-86
-
(2003)
Exp. Cell Res.
, vol.286
, pp. 75-86
-
-
Bechert, K.1
-
23
-
-
0034737456
-
Mitotic misregulation and human aging
-
Ly, D.H. et al. (2000) Mitotic misregulation and human aging. Science 287, 2486-2492
-
(2000)
Science
, vol.287
, pp. 2486-2492
-
-
Ly, D.H.1
-
24
-
-
0041919374
-
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
-
10.1093/hmg/ddg213
-
Agarwal, A. et al. (2003) Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet. 10.1093/hmg/ ddg213(http://hmg.oupjournals.org/)
-
(2003)
Hum. Mol. Genet.
-
-
Agarwal, A.1
|