The DOI matches its Crossref record; 99 of the 99 references it cites were found in a registry or an index.
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Abstract
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.
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Cites
CDC GROWTH CHARTS FOR THE UNITED STATES: METHODS AND DEVELOPMENT 2000
Kuczmarski, R. J., Ogden, C. L., Guo, S. S., Strawn, L. G., Flegal, K. M., & Mei, Z. (2002) · Cited by 6,426
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., et al. (2001) · Nature Genetics · doi:10.1038/ng772 · Cited by 1,733
Self-citationTartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. L., van der Burgt, I., Brunner, H. G., Bertola, D. R., Crosby, A., Ion, A., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340847 · Cited by 802
Self-citationGermline KRAS mutations cause Noonan syndrome
Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics · doi:10.1038/ng1748 · Cited by 730
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2073 · Cited by 698
Self-citationGermline mutations in HRAS proto-oncogene cause Costello syndrome
Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1641 · Cited by 679
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Roberts, A. E., Araki, T., Swanson, K. D., Montgomery, K. T., Schiripo, T. A., Joshi, V. A., Li, L., Yassin, Y., Tamburino, A. M., Neel, B. G., et al. (2007) · Nature Genetics · doi:10.1038/ng1926 · Cited by 605
Self-citationGermline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., Okamoto, N., Hennekam, R. C. M., Gillessen-Kaesbach, G., Wieczorek, D., et al. (2006) · Nature Genetics · doi:10.1038/ng1749 · Cited by 599
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., et al. (2007) · Nature Genetics · doi:10.1038/ng1939 · Cited by 586
Self-citationGermline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
Rodriguez-Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Cruz, M. S., McCormick, F., & Rauen, K. A. (2006) · Science · doi:10.1126/science.1124642 · Cited by 571
Cited by
2023 ESC guidelines for the management of cardiomyopathies
Arbelo, E., Protonotarios, A., Gimeno, J. R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C. R., Biagini, E., Blom, N. A., de Boer, R. A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad194 · Cited by 2,844
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
Self-citationRecent advances in RASopathies
Aoki, Y., Niihori, T., Inoue, S.-I., & Matsubara, Y. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2015.114 · Cited by 373
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., Ogata, T., Takada, F., Yano, M., Ando, T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.05.021 · Cited by 330
SHP2 sails from physiology to pathology
Tajan, M., de Rocca Serra, A., Valet, P., Edouard, T., & Yart, A. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.08.005 · Cited by 232
Metadata
- Authors
- Romano, A. A., Allanson, J. E., Dahlgren, J., Gelb, B. D., Hall, B., Pierpont, M. E., Roberts, A. E., Robinson, W., Takemoto, C. M., & Noonan, J. A.
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2010-10-01
- Volume
- 126
- Issue
- 4
- Pages
- 746-759
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W2143454794
- Cited by
- 628
- References
- 99
- FWCI
- 12.17
- Type
- journal article
- Language
- en
- Open access
- closed
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- Romano, A. A., Allanson, J. E., Dahlgren, J., Gelb, B. D., Hall, B., Pierpont, M. E., Roberts, A. E., Robinson, W., Takemoto, C. M., & Noonan, J. A. (2010). Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. Pediatrics. https://doi.org/10.1542/peds.2009-3207
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