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Items: 6


Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M, Zampino G, Gelb BD.

Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15.


GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism.

Huang X, Fu Y, Charbeneau RA, Neubig RR.

Med Hypotheses. 2009 Jul;73(1):56-9. doi: 10.1016/j.mehy.2009.01.040. Epub 2009 Mar 17.


Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.


An unexpected new role of mutant Ras: perturbation of human embryonic development.

Kratz CP, Niemeyer CM, Zenker M.

J Mol Med (Berl). 2007 Mar;85(3):227-35. Epub 2007 Jan 9. Review.


Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy.

Gibson W, Trevenen C, Giuffre M, Leung AK.

J Natl Med Assoc. 2005 Jun;97(6):805-7.


PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.

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