The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Alagille syndrome: pathogenesis, diagnosis and management
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Citations
Cites
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-243 · Cited by 1,284
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-235 · Cited by 1,158
Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1
Xue, Y., Gao, X., Lindsell, C. E., Norton, C. R., Chang, B., Hicks, C., Gendron-Maguire, M., Rand, E. B., Weinmaster, G., & Gridley, T. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.723 · Cited by 762
NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway
McDaniell, R., Warthen, D. M., Sanchez-Lara, P. A., Pai, A., Krantz, I. D., Piccoli, D. A., & Spinner, N. B. (2006) · The American Journal of Human Genetics · doi:10.1086/505332 · Cited by 749
Alagille, D., Odièvre, M., Gautier, M., & Dommergues, J. P. (1975) · The Journal of Pediatrics · doi:10.1016/s0022-3476(75)80706-2 · Cited by 686
Alagille, D., Estrada, A., Hadchouel, M., Gautler, M., Odièvre, M., & Dommergues, J. P. (1987) · The Journal of Pediatrics · doi:10.1016/s0022-3476(87)80153-1 · Cited by 662
Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis
Emerick, K. M., Rand, E. B., Goldmuntz, E., Krantz, I. D., Spinner, N. B., & Piccoli, D. A. (1999) · Hepatology · doi:10.1002/hep.510290331 · Cited by 660
A mouse model of Alagille syndrome:Notch2 as a genetic modifier of Jag1 haploinsufficiency
McCright, B., Lozier, J., & Gridley, T. (2002) · Development · doi:10.1242/dev.129.4.1075 · Cited by 487
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald‐McGinn, D. M., Kirschner, R. E., Goldmuntz, E., Sullivan, K. E., Eicher, P. S., Gerdes, M., Moss, E., Solot, C. B., Wang, P., Jacobs, I. N., et al. (1999) · PubMed · Cited by 435
Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality
Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., & Krantz, I. D. (2004) · Circulation · doi:10.1161/01.cir.0000121361.01862.a4 · Cited by 361
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Cholangiocarcinoma 2020: the next horizon in mechanisms and management
Banales, J. M., Marin, J. J. G., Lamarca, A., Rodrigues, P. M., Khan, S. A., Roberts, L. R., Cardinale, V., Carpino, G., Andersen, J. B., Braconi, C., et al. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-020-0310-z · Cited by 2,411
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
The neural crest in cardiac congenital anomalies
Keyte, A., & Hutson, M. R. (2012) · Differentiation · doi:10.1016/j.diff.2012.04.005 · Cited by 259
Organoids to model liver disease
Nuciforo, S., & Heim, M. H. (2021) · JHEP Reports · doi:10.1016/j.jhepr.2020.100198 · Cited by 164
A human embryonic limb cell atlas resolved in space and time
Zhang, B., He, P., Lawrence, J. E. G., Wang, S., Tuck, E., Williams, B. A., Roberts, K., Kleshchevnikov, V., Mamanova, L., Bolt, L., et al. (2024) · Nature · doi:10.1038/s41586-023-06806-x · Cited by 143
Metadata
- Authors
- Turnpenny, P. D., & Ellard, S.
- Venue
- European Journal of Human Genetics
- Published
- 2011-09-21
- Volume
- 20
- Issue
- 3
- Pages
- 251-257
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2037566373
- Cited by
- 398
- References
- 34
- FWCI
- 12.36
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Turnpenny, P. D., & Ellard, S. (2012). Alagille syndrome: pathogenesis, diagnosis and management. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2011.181
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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.
