The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity
Open accessAbstract
Fanconi anemia (FA) is characterized clinically by a progressive pancytopenia, diverse congenital abnormalities and increased predisposition to malignancy. Although a variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, study of cellular sensitivity to the clastogenic effect of DNA cross-linking agents such as diepoxybutane (DEB) has been used to facilitate the diagnosis. Data from DEB-induced chromosomal breakage studies of 328 peripheral blood specimens from patients considered at risk for FA were analyzed using a stepwise multivariate logistic regression, in order to determine which method of representing the data best discriminated between DEB-sensitive (DEB+) and DEB-insensitive (DEB-) cases. Similar methods were applied to the data from the International Fanconi Anemia Registry (IFAR) to determine whether DEB+ and DEB- cases may be considered as distinct clinical entities, and if so, which variables provide the best discrimination between the two groups. We conclude that hypersensitivity to the clastogenic effect of DEB is a useful discriminator for FA. A simplified scoring method for classifying patients on the basis of eight clinical manifestations that are the best predictors for FA is presented. Our data indicate that the clinical diversity in FA is more widespread than previously recognized.
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Cites
Quan, L., & Smith, D. W. (1973) · The Journal of Pediatrics · doi:10.1016/s0022-3476(73)80024-1 · Cited by 640
A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents.
Sasaki, M. S., & Tonomura, A. (1973) · PubMed · Cited by 530
FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS
Holt, M., & Oram, S. (1960) · Heart · doi:10.1136/hrt.22.2.236 · Cited by 505
Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens
AUERBACH, A. D., & WOLMAN, S. R. (1976) · Nature · doi:10.1038/261494a0 · Cited by 336
Self-citationTHROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)
HALL, J. G., LEVIN, J., KUHN, J. P., OTTENHEIMER, E. J., van BERKUM, K. A. P., & McKUSICK, V. A. (1969) · Medicine · doi:10.1097/00005792-196948060-00001 · Cited by 311
Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects.
Fanconi, G. (1967) · PubMed · Cited by 306
Shwachman's syndrome. A review of 21 cases.
Aggett, P. J., Cavanagh, N. P., Matthew, D. J., Pincott, J. R., Sutcliffe, J., & Harries, J. T. (1980) · Archives of Disease in Childhood · doi:10.1136/adc.55.5.331 · Cited by 266
Fanconi's Anaemia in the Genetics of Neoplasia
SWIFT, M. (1971) · Nature · doi:10.1038/230370a0 · Cited by 261
Prenatal and Postnatal Diagnosis and Carrier Detection of Fanconi Anemia by a Cytogenetic Method
Auerbach, A. D., Adler, B., & Chaganti, R. S. K. (1981) · Pediatrics · doi:10.1542/peds.67.1.128 · Cited by 230
Self-citationSpectrum of anomalies in Fanconi anaemia.
Glanz, A., & Fraser, F. C. (1982) · Journal of Medical Genetics · doi:10.1136/jmg.19.6.412 · Cited by 192
Cited by
Gluckman, E., Broxmeyer, H. E., Auerbach, A. D., Friedman, H. S., Douglas, G. W., Devergie, A., Esperou, H., Thierry, D., Socie, G., Lehn, P., et al. (1989) · New England Journal of Medicine · doi:10.1056/nejm198910263211707 · Cited by 2,094
Self-citationCloning of cDNAs for Fanconi's anaemia by functional complementation
Strathdee, C. A., Gavish, H., Shannon, W. R., & Buchwald, M. (1992) · Nature · doi:10.1038/356763a0 · Cited by 624
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
Kutler, D. I., Singh, B., Satagopan, J., Batish, S. D., Berwick, M., Giampietro, P. F., Hanenberg, H., & Auerbach, A. D. (2003) · Blood · doi:10.1182/blood-2002-07-2170 · Cited by 618
Self-citationThe emerging genetic and molecular basis of Fanconi anaemia
Joenje, H., & Patel, K. J. (2001) · Nature Reviews Genetics · doi:10.1038/35076590 · Cited by 572
Mutation of the RAD51C gene in a Fanconi anemia–like disorder
Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., et al. (2010) · Nature Genetics · doi:10.1038/ng.570 · Cited by 408
Metadata
- Authors
- Auerbach, A., Rogatko, A., & Schroeder-Kurth, T.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1989-02-01
- Volume
- 73
- Issue
- 2
- Pages
- 391-396
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1562232013
- Cited by
- 345
- References
- 22
- FWCI
- 4.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Auerbach, A., Rogatko, A., & Schroeder-Kurth, T. (1989). International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. https://doi.org/10.1182/blood.v73.2.391.391
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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).
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