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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Jongmans MC, et al. Among authors: van der burgt i, van krieken jh, van kessel ag. Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407260 Free PMC article.
Genetics and variation in phenotype in Noonan syndrome.
Jongmans M, Otten B, Noordam K, van der Burgt I. Jongmans M, et al. Among authors: van der burgt i. Horm Res. 2004;62 Suppl 3:56-9. doi: 10.1159/000080500. Horm Res. 2004. PMID: 15539800
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N. Jongmans MC, et al. Among authors: van der burgt i, van kessel ag. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773. Genes Chromosomes Cancer. 2010. PMID: 20461756
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Among authors: van der burgt i, van den heuvel lp. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG. Croonen EA, et al. Among authors: van der burgt i, van de laar im. Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321623 Free PMC article.
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Vissers LE, et al. Among authors: van der burgt i. Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939586 Free PMC article.
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: van der burgt i, van hagen jm. Am J Hum Genet. 2010 Aug 13;87(2):250-7. doi: 10.1016/j.ajhg.2010.06.015. Epub 2010 Jul 8. Am J Hum Genet. 2010. PMID: 20619386 Free PMC article.
97 results