The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Fragile X syndrome: Diagnostic and carrier testing
Open accessAbstract
Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.
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Cites
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711 · cited 2×
“…Approximately 1/4000 males have fragile X syndrome and, by inference, about 1/8000 females have significant features of the syndrome (for review, see Crawford et al. (2001)).6 Premutation alleles are defined as long, unmethylated repeat tracks that are unstably transmitted from parent to child.”
BackgroundSelf-citationExpansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367713 · Cited by 421
Self-citationHagerman, R. J. (2002) · doi:10.56021/9780801868436 · Cited by 299
Cited by
Nelson, L. M. (2009) · New England Journal of Medicine · doi:10.1056/nejmcp0808697 · Cited by 1,158
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Advances in the Treatment of Fragile X Syndrome
Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2008-0317 · Cited by 596
Primary ovarian insufficiency: a more accurate term for premature ovarian failure
Welt, C. K. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.03073.x · Cited by 538
Garber, K. B., Visootsak, J., & Warren, S. T. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.61 · Cited by 473
Metadata
- Authors
- Sherman, S., Pletcher, B. A., & Driscoll, D. A.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2005-10
- Volume
- 7
- Issue
- 8
- Pages
- 584-587
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2112646528
- Cited by
- 277
- References
- 5
- FWCI
- 7.73
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine. https://doi.org/10.1097/01.gim.0000182468.22666.dd
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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.
