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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1980 2
1983 1
1987 1
1989 2
1990 2
1991 2
1993 4
1994 4
1995 1
1996 7
1997 8
1998 1
1999 4
2000 2
2001 6
2002 3
2003 2
2004 7
2005 11
2006 8
2007 13
2008 11
2009 9
2010 13
2011 16
2012 9
2013 16
2014 16
2015 14
2016 18
2017 16
2018 13
2019 17
2020 15
2021 23
2022 23
2023 14
2024 7

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294 results

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Page 1
Noonan syndrome.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Roberts AE, et al. Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Lancet. 2013. PMID: 23312968 Free PMC article. Review.
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD. Linglart L, et al. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32022400 Free PMC article. Review.
Genotype-phenotype associations for Noonan syndrome enable better prognostication for affected patients when a molecular diagnosis is established. ...
Genotype-phenotype associations for Noonan syndrome enable better prognostication for affected patients when a molecular diagnosis is …
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
Characterization and understanding of genotype-phenotype associations is not only important for counseling a family of an infant with a new diagnosis of a RASopathy condition but is also critical for their clinical prognosis with respect to cardiac disease, neurodevelopmen …
Characterization and understanding of genotype-phenotype associations is not only important for counseling a family of an infant with a new …
Differentiated Thyroid Cancer-Treatment: State of the Art.
Schmidbauer B, Menhart K, Hellwig D, Grosse J. Schmidbauer B, et al. Int J Mol Sci. 2017 Jun 17;18(6):1292. doi: 10.3390/ijms18061292. Int J Mol Sci. 2017. PMID: 28629126 Free PMC article. Review.
It derives from follicular thyroid cells. Generally speaking, the prognosis is excellent. If treatment according to the current guidelines is given, cases of recurrence or persistence are rare. ...
It derives from follicular thyroid cells. Generally speaking, the prognosis is excellent. If treatment according to the current guide …
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G. Lioncino M, et al. Heart Fail Clin. 2022 Jan;18(1):19-29. doi: 10.1016/j.hfc.2021.07.004. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776080 Free PMC article. Review.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Motta M, et al. Hum Mol Genet. 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. Hum Mol Genet. 2019. PMID: 30481304
Moreover, we document that dominant NS-causing mutations do not perturb binding of LZTR1 to CUL3, a scaffold coordinating the assembly of a multimeric complex catalyzing protein ubiquitination but are predicted to affect the surface of the Kelch domain mediating substrate …
Moreover, we document that dominant NS-causing mutations do not perturb binding of LZTR1 to CUL3, a scaffold coordinating the assembly of a …
Noonan syndrome.
Turner AM. Turner AM. J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19. J Paediatr Child Health. 2014. PMID: 21771153 Review.
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
294 results