The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
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Citations
Cites
Cloning of Large Segments of Exogenous DNA into Yeast by Means of Artificial Chromosome Vectors
Burke, D. T., Carle, G. F., & Olson, M. V. (1987) · Science · doi:10.1126/science.3033825 · Cited by 1,501
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Lupski, J. R., de Oca-Luna, R. M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90613-4 · Cited by 1,333
Self-citationDNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
Edwards, A., Civitello, A. B., Hammond, H. A., & Caskey, C. T. (1991) · Europe PMC (PubMed Central) · Cited by 1,147
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Skre, H. (1974) · Clinical Genetics · doi:10.1111/j.1399-0004.1974.tb00638.x · Cited by 906
CpG islands as gene markers in the vertebrate nucleus
Bird, A. P. (1987) · Trends in Genetics · doi:10.1016/0168-9525(87)90294-0 · Cited by 678
Riley, J., Butler, R., Ogilvie, D., Finniear, R., Jenner, D., Powell, S., Anand, R., Smith, J. C., & Markham, A. F. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.10.2887 · Cited by 644
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
Raeymaekers, P., Timmerman, V, Nelis, E., De Jonghe, P., Hoogenduk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., Bolhuis, P. A., et al. (1991) · Neuromuscular Disorders · doi:10.1016/0960-8966(91)90055-w · Cited by 607
Nelson, D. L., Ledbetter, S. A., Corbo, L., Victoria, M. F., Ramírez-Solis, R., Webster, T. D., Ledbetter, D. H., & Caskey, C. T. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.17.6686 · Cited by 577
Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., et al. (1992) · Nature Genetics · doi:10.1038/ng0692-159 · Cited by 499
Self-citationTrembler mouse carries a point mutation in a myelin gene
Suter, U., Welcher, A. A., Özcelik, T., Snipes, G. J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R. L., & Shooter, E. M. (1992) · Nature · doi:10.1038/356241a0 · Cited by 429
Cited by
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908
Self-citationInversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Lakich, D., Kazazian, H. H., Antonarakis, S. E., & Gitschier, J. (1993) · Nature Genetics · doi:10.1038/ng1193-236 · Cited by 788
Chromosome 21 and Down syndrome: from genomics to pathophysiology
Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., & Deutsch, S. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1448 · Cited by 703
Berg, I. L., Neumann, R., Lam, K.-W. G., Sarbajna, S., Odenthal-Hesse, L., May, C. A., & Jeffreys, A. J. (2010) · Nature Genetics · doi:10.1038/ng.658 · Cited by 315
Genomic copy number variation, human health, and disease
Wain, L. V., Armour, J. A., & Tobin, M. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60249-x · Cited by 196
Metadata
- Authors
- Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., & Lupski, J. R.
- Venue
- Nature Genetics
- Published
- 1992-12
- Volume
- 2
- Issue
- 4
- Pages
- 292-300
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1972543680
- Cited by
- 386
- References
- 36
- FWCI
- 6.59
- Type
- journal article
- Language
- en
- Open access
- closed
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. https://app.cochat.ai/papers/10.1038/ng1292-292
- The paper
- Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., & Lupski, J. R. (1992). Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genetics. https://doi.org/10.1038/ng1292-292
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
