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Items: 1 to 20 of 30

1.

Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M.

Cell Cycle. 2006 Aug;5(15):1607-11. Epub 2006 Aug 1.

PMID:
16921267
2.

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.

3.

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

Schubbert S, Bollag G, Shannon K.

Curr Opin Genet Dev. 2007 Feb;17(1):15-22. Review.

PMID:
17208427
4.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
5.

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.

Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Epub 2009 Mar 4. Review.

6.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PMID:
18470943
7.

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

Gos M, Leszkiewicz M, Abramowicz A.

Postepy Biochem. 2012;58(3):255-64. Review. Polish.

PMID:
23373411
8.

Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan JA.

Rev Endocr Metab Disord. 2006 Dec;7(4):251-5. Review.

9.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.

Zenker M.

Horm Res. 2009 Dec;72 Suppl 2:57-63. doi: 10.1159/000243782. Epub 2009 Dec 22. Review.

PMID:
20029240
10.

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.

Zenker M.

Curr Opin Pediatr. 2011 Aug;23(4):443-51. doi: 10.1097/MOP.0b013e32834881dd. Review.

PMID:
21750428
11.

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA.

Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Epub 2009 May 19. Review.

12.

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP.

Eur J Pediatr. 2009 Aug;168(8):919-23. doi: 10.1007/s00431-008-0858-z. Epub 2008 Oct 29. Review.

PMID:
18958496
13.

What's new in the neuro-cardio-facial-cutaneous syndromes?

Denayer E, Legius E.

Eur J Pediatr. 2007 Nov;166(11):1091-8. Epub 2007 Jul 5. Review.

PMID:
17611774
14.

Hyperactive Ras in developmental disorders and cancer.

Schubbert S, Shannon K, Bollag G.

Nat Rev Cancer. 2007 Apr;7(4):295-308. Review. Erratum in: Nat Rev Cancer. 2007 Jul;7(7):563.

PMID:
17384584
15.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
16.

HRAS and the Costello syndrome.

Rauen KA.

Clin Genet. 2007 Feb;71(2):101-8. Review.

PMID:
17250658
17.

Ras/MAPK syndromes and childhood hemato-oncological diseases.

Aoki Y, Matsubara Y.

Int J Hematol. 2013 Jan;97(1):30-6. doi: 10.1007/s12185-012-1239-y. Epub 2012 Dec 19. Review.

PMID:
23250860
18.

Recent advances in RASopathies.

Aoki Y, Niihori T, Inoue S, Matsubara Y.

J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. Review.

PMID:
26446362
19.
20.

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M.

Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Review.

PMID:
26249544

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