The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
Beighton, P., & Beighton, G. (1997) · The Person Behind the Syndrome · doi:10.1007/978-1-4471-0925-9_118 · Cited by 3,159
Massagué, J. (2000) · Nature Reviews Molecular Cell Biology · doi:10.1038/35043051 · Cited by 1,899
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, M., Höglund, P., et al. (1998) · Nature · doi:10.1038/34432 · Cited by 1,656
Self-citationPeutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinase
Jenne, D. E., Reomann, H., Nezu, J.-I., Friedel, W., Loff., S., Jeschke, R., Müller, O., Back, W., & Zimmer, M. (1998) · Nature Genetics · doi:10.1038/ng0198-38 · Cited by 1,205
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., et al. (1998) · Science · doi:10.1126/science.280.5366.1086 · Cited by 907
Self-citationAltered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers
Mutter, G. L. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.11.924 · Cited by 829
Localization of the gene for Cowden disease to chromosome 10q22–23
Nelen, M. R., Padberg, G. W., Peeters, E. A. J., Lin, A. Y., Helm, B. V. D., Frants, R. R., Goulon, V., Goldstein, A. M., Reen, M. M. M. V., Eastern, D. F., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-114 · Cited by 668
Self-citationGermline mutations in PTEN are present in Bannayan-Zonana syndrome
Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., & Eng, C. (1997) · Nature Genetics · doi:10.1038/ng0897-333 · Cited by 655
Self-citationMarsh, D. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.507 · Cited by 653 · cited 3×
“Loss of Heterozygosity (LOH) Analysis Available component tumors from BMPR1A-mutation–positive and BMPR1A-mutation–negative cases of JPS were subjected to LOH analysis with markers ALK3ca, ALK3ggaa, and D10S573, by techniques described elsewhere (Marsh et al. 1998c; Woodford-Richens et al. 2000b).”
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Cited by
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Self-citationThe intestinal crypt, a prototype stem cell compartment
Clevers, H. (2013) · Cell · doi:10.1016/j.cell.2013.07.004 · Cited by 1,223
PTEN: One Gene, Many Syndromes
Eng, C. (2003) · Human Mutation · doi:10.1002/humu.10257 · Cited by 787
Self-citationSelf-Renewal and Cancer of the Gut: Two Sides of a Coin
Radtke, F., & Clevers, H. (2005) · Science · doi:10.1126/science.1104815 · Cited by 690
Alterations in components of the TGF-β superfamily signaling pathways in human cancer
LEVY, L., & HILL, C. (2006) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.09.009 · Cited by 539
Metadata
- Authors
- Zhou, X.-P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., Dunlop, M., Hodgson, S. V., Iwama, T., Järvinen, H., Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., Mecklin, J.-P., Neale, K., Phillips, R., Piris, J., Rozen, P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P. M., & Eng, C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-10
- Volume
- 69
- Issue
- 4
- Pages
- 704-711
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1972937411
- Cited by
- 253
- References
- 33
- FWCI
- 9.97
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*. https://app.cochat.ai/papers/10.1086/323703
- The paper
- Zhou, X.-P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., Dunlop, M., Hodgson, S. V., Iwama, T., Järvinen, H., Kellokumpu, I., Kim, J. C., Leggett, B., . . . Eng, C. (2001). Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*. The American Journal of Human Genetics. https://doi.org/10.1086/323703
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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.
