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Items: 1 to 20 of 84

1.

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
2.

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
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 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.

5.

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
6.

Clinical and molecular aspects of RAS related disorders.

Denayer E, de Ravel T, Legius E.

J Med Genet. 2008 Nov;45(11):695-703. doi: 10.1136/jmg.2007.055772. Epub 2008 Jun 11. Review.

PMID:
18550698
7.

Noonan syndrome, the Ras-MAPK signalling pathway and short stature.

Binder G.

Horm Res. 2009 Apr;71 Suppl 2:64-70. doi: 10.1159/000192439. Epub 2009 Apr 29. Review.

PMID:
19407499
8.

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.

9.

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
10.

HRAS and the Costello syndrome.

Rauen KA.

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

PMID:
17250658
11.

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
12.

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles JP, Raynal P.

Cell Mol Life Sci. 2007 Jul;64(13):1585-90. Review.

PMID:
17453145
13.

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
14.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. Review.

PMID:
16987887
15.

The cardiofaciocutaneous syndrome.

Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.

J Med Genet. 2006 Nov;43(11):833-42. Epub 2006 Jul 6. Review.

16.

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.

Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D.

Endocr Regul. 2013 Oct;47(4):217-22. Review.

PMID:
24156711
17.

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.

Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:523-8. Review.

PMID:
19550387
18.

[Rasopathies: developmental disorders that predispose to cancer and skin manifestations].

Hernández-Martín A, Torrelo A.

Actas Dermosifiliogr. 2011 Jul-Aug;102(6):402-16. doi: 10.1016/j.ad.2011.02.010. Epub 2011 May 4. Review. Spanish.

PMID:
21536246
19.

RAS diseases in children.

Niemeyer CM.

Haematologica. 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. Review.

20.

The RASopathies.

Rauen KA.

Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Review.

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