The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
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
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Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Spudich, S., De Girolami, U., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912023412302 · Cited by 1,359
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Bonne, G., Barletta, M. R. D., Varnous, S., Bécane, H.-M., Hammouda, E.-H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., et al. (1999) · Nature Genetics · doi:10.1038/6799 · Cited by 1,358
McKeon, F. D., Kirschner, M. W., & Caput, D. (1986) · Nature · doi:10.1038/319463a0 · Cited by 826
5-Methylcytosine in Eukaryotic DNA
Ehrlich, M., & Wang, R. Y.-H. (1981) · Science · doi:10.1126/science.6262918 · Cited by 736
Fisher, D. Z., Chaudhary, N., & Blobel, G. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.17.6450 · Cited by 711
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 704
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 662
Underhill, P. A., Jin, L., Lin, A. A., Mehdi, S. Q., Jenkins, T., Vollrath, D., Davis, R. W., Cavalli-Sforza, L. L., & Oefner, P. J. (1997) · Genome Research · doi:10.1101/gr.7.10.996 · Cited by 657
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
Lin, F., & Worman, H. J. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)85424-8 · Cited by 632
Foisner, R., & Gerace, L. (1993) · Cell · doi:10.1016/0092-8674(93)90355-t · Cited by 533
Cited by
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 1,990
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Nuclear lamins and laminopathies
Worman, H. J. (2012) · The Journal of Pathology · doi:10.1002/path.2999 · Cited by 401
Efficacy and Safety of Troglitazone in the Treatment of Lipodystrophy Syndromes
Arioglu, E., Duncan-Morin, J., Sebring, N., Rother, K. I., Gottlieb, N., Lieberman, J., Herion, D., Kleiner, D. E., Reynolds, J., Premkumar, A., et al. (2000) · Annals of Internal Medicine · doi:10.7326/0003-4819-133-4-200008150-00009 · Cited by 303
Self-citationLipodystrophy: metabolic insights from a rare disorder
Huang-Doran, I., Sleigh, A., Rochford, J. J., O'Rahilly, S., & Savage, D. B. (2010) · Journal of Endocrinology · doi:10.1677/joe-10-0272 · Cited by 215
Metadata
- Authors
- Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., & Bowcock, A. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-04
- Volume
- 66
- Issue
- 4
- Pages
- 1192-1198
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1966424866
- Cited by
- 273
- References
- 25
- FWCI
- 9.35
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: 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. https://app.cochat.ai/papers/10.1086/302836
- The paper
- Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., & Bowcock, A. M. (2000). 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. The American Journal of Human Genetics. https://doi.org/10.1086/302836
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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