The DOI matches its Crossref record; 82 of the 82 references it cites were found in a registry or an index.
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
Open accessAbstract
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.
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Cites
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097
Bhasin, S., Cunningham, G. R., Hayes, F. J., Matsumoto, A. M., Snyder, P. J., Swerdloff, R. S., & Montori, V. M. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2354 · Cited by 1,954
Brown, C. J., Ballabio, A., Rupert, J. L., Lafreniere, R. G., Grompe, M., Tonlorenzi, R., & Willard, H. F. (1991) · Nature · doi:10.1038/349038a0 · Cited by 1,533
Requirement for Xist in X chromosome inactivation
Penny, G. D., Kay, G. F., Sheardown, S. A., Rastan, S., & Brockdorff, N. (1996) · Nature · doi:10.1038/379131a0 · Cited by 1,205
The DNA sequence of the human X chromosome
Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature · doi:10.1038/nature03440 · Cited by 1,129
KLINEFELTER, H. F., REIFENSTEIN, E. C., & ALBRIGHT, F. (1942) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-2-11-615 · Cited by 1,061
BARR, M. L., & BERTRAM, E. G. (1949) · Nature · doi:10.1038/163676a0 · Cited by 1,030
Lanfranco, F., Kamischke, A., Zitzmann, M., & Nieschlag, E. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16678-6 · Cited by 1,002
Requirement for Xist in X chromosome inactivation
(1996) · Trends in Genetics · doi:10.1016/0168-9525(96)81414-4 · Cited by 970
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
Bojesen, A., Juul, S., & Gravholt, C. H. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021491 · Cited by 894
Cited by
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
Gravholt, C. H., Chang, S., Wallentin, M., Fedder, J., Moore, P., & Skakkebæk, A. (2018) · Endocrine Reviews · doi:10.1210/er.2017-00212 · Cited by 328
Paediatric and adult-onset male hypogonadism
Salonia, A., Rastrelli, G., Hackett, G., Seminara, S. B., Huhtaniemi, I. T., Rey, R. A., Hellstrom, W. J. G., Palmert, M. R., Corona, G., Dohle, G. R., et al. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0087-y · Cited by 286
Nordenström, A., Ahmed, S. F., van den Akker, E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., Claahsen-van der Grinten, H. L., Dessens, A. B., Gawlik, A., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0073 · Cited by 108
Self-citationGabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103
Metadata
- Authors
- On behalf of the Klinefelter ItaliaN Group (KING), Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., & Ferlin, A.
- Venue
- Journal of Endocrinological Investigation
- Published
- 2016-09-19
- Volume
- 40
- Issue
- 2
- Pages
- 123-134
- ISSN
- 0391-4097 (ISSN-L)
- 1720-8386
- OpenAlex
- W2522229769
- Cited by
- 365
- References
- 82
- FWCI
- 17.61
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- On behalf of the Klinefelter ItaliaN Group (KING), Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., & Ferlin, A. (2017). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of Endocrinological Investigation. https://doi.org/10.1007/s40618-016-0541-6
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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