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Year | Number of Results |
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2002 | 2 |
2006 | 1 |
2009 | 1 |
2012 | 1 |
2016 | 1 |
2024 | 0 |
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Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
J Biol Chem. 2012 Aug 3;287(32):27066-77. doi: 10.1074/jbc.M112.350231. Epub 2012 Jun 18.
J Biol Chem. 2012.
PMID: 22711529
Free PMC article.
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
Atik T, Aykut A, Hazan F, Onay H, Goksen D, Darcan S, Tukun A, Ozkinay F.
Atik T, et al.
Indian J Pediatr. 2016 Jun;83(6):517-21. doi: 10.1007/s12098-015-1998-6. Epub 2016 Jan 28.
Indian J Pediatr. 2016.
PMID: 26817465
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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.
Tartaglia M, et al.
Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1.
Am J Hum Genet. 2002.
PMID: 11992261
Free PMC article.
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PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE.
Bertola DR, et al.
Genet Test. 2006 Fall;10(3):186-91. doi: 10.1089/gte.2006.10.186.
Genet Test. 2006.
PMID: 17020470
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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.
Maheshwari M, et al.
Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129.
Hum Mutat. 2002.
PMID: 12325025
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SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B.
Beneteau C, et al.
Eur J Hum Genet. 2009 Oct;17(10):1216-21. doi: 10.1038/ejhg.2009.44. Epub 2009 Apr 8.
Eur J Hum Genet. 2009.
PMID: 19352411
Free PMC article.
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