The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
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Citations
Cites
Nakashima, K., Zhou, X., Kunkel, G., Zhang, Z., Deng, J. M., Behringer, R. R., & de Crombrugghe, B. (2002) · Cell · doi:10.1016/s0092-8674(01)00622-5 · Cited by 3,608
Genetic heterogeneity in osteogenesis imperfecta.
Sillence, D. O., Senn, A., & Danks, D. M. (1979) · Journal of Medical Genetics · doi:10.1136/jmg.16.2.101 · Cited by 2,229
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80260-3 · Cited by 1,522
Nagy, E., & Maquat, L. E. (1998) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(98)01208-0 · Cited by 1,187
Procollagen trafficking, processing and fibrillogenesis
Canty, E. G., & Kadler, K. E. (2005) · Journal of Cell Science · doi:10.1242/jcs.01731 · Cited by 764
the Genetic Factors for Osteoporosis (GEFOS) Consortium (2009) · Nature Genetics · doi:10.1038/ng.446 · Cited by 706
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
Morello, R., Bertin, T. K., Chen, Y., Hicks, J., Tonachini, L., Monticone, M., Castagnola, P., Rauch, F., Glorieux, F. H., Vranka, J., et al. (2006) · Cell · doi:10.1016/j.cell.2006.08.039 · Cited by 531
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
Warner, L. E., Mancias, P., Butler, I. J., McDonald, C. M., Keppen, L., Koob, K. G., & Lupski, J. R. (1998) · Nature Genetics · doi:10.1038/ng0498-382 · Cited by 500
Cabral, W. A., Chang, W., Barnes, A. M., Weis, M., Scott, M. A., Leikin, S., Makareeva, E., Kuznetsova, N. V., Rosenbaum, K. N., Tifft, C. J., et al. (2007) · Nature Genetics · doi:10.1038/ng1968 · Cited by 486
Mammalian SP/KLF transcription factors: Bring in the family
Suske, G., Bruford, E., & Philipsen, S. (2005) · Genomics · doi:10.1016/j.ygeno.2005.01.005 · Cited by 378
Cited by
Marini, J. C., Forlino, A., Bächinger, H. P., Bishop, N. J., Byers, P. H., Paepe, A. D., Fassier, F., Fratzl-Zelman, N., Kozloff, K. M., Krakow, D., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.52 · Cited by 842
IFITM5 mutations and osteogenesis imperfecta
Hanagata, N. (2016) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-015-0667-1 · Cited by 38
Autism and heritable bone fragility: a true association?
Balasubramanian, M., Jones, R., Milne, E., Marshall, C., Arundel, P., Smith, K., & Bishop, N. J. (2018) · Bone Reports · doi:10.1016/j.bonr.2018.04.002 · Cited by 11
Metadata
- Authors
- Lapunzina, P., Aglan, M., Temtamy, S., Caparrós-Martín, J. A., Valencia, M., Letón, R., Martínez-Glez, V., Elhossini, R., Amr, K., Vilaboa, N., & Ruiz-Perez, V. L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-07
- Volume
- 87
- Issue
- 1
- Pages
- 110-114
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1963492957
- Cited by
- 289
- References
- 27
- FWCI
- 14.75
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta. https://app.cochat.ai/papers/10.1016/j.ajhg.2010.05.016
- The paper
- Lapunzina, P., Aglan, M., Temtamy, S., Caparrós-Martín, J. A., Valencia, M., Letón, R., Martínez-Glez, V., Elhossini, R., Amr, K., Vilaboa, N., & Ruiz-Perez, V. L. (2010). Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2010.05.016
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.
