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Results: 1 to 20 of 122

1.

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.

PMID:
19467855
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
23875798
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y.

Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.

PMID:
23791108
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

Autism traits in the RASopathies.

Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.

J Med Genet. 2014 Jan;51(1):10-20. doi: 10.1136/jmedgenet-2013-101951. Epub 2013 Oct 7.

PMID:
24101678
[PubMed - indexed for MEDLINE]
8.

Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.

Reig I, Boixeda P, Fleta B, Morenoc C, Gámez L, Truchuelo M.

Dermatol Online J. 2011 Apr 15;17(4):4.

PMID:
21549079
[PubMed - indexed for MEDLINE]
Free Article
9.

Mosaic RASopathies.

Hafner C, Groesser L.

Cell Cycle. 2013 Jan 1;12(1):43-50. doi: 10.4161/cc.23108. Epub 2012 Dec 19. Review.

PMID:
23255105
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
19258709
[PubMed - indexed for MEDLINE]
15.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, van Haeringen A, van der Burgt I, Burgering B, den Hertog J.

Dis Model Mech. 2011 May;4(3):393-9. doi: 10.1242/dmm.007112. Epub 2011 Jan 24.

PMID:
21263000
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.

Kaski JP, Syrris P, Shaw A, Alapi KZ, Cordeddu V, Esteban MT, Jenkins S, Ashworth M, Hammond P, Tartaglia M, McKenna WJ, Elliott PM.

Circ Cardiovasc Genet. 2012 Jun;5(3):317-26. doi: 10.1161/CIRCGENETICS.111.960468. Epub 2012 May 15.

PMID:
22589294
[PubMed - indexed for MEDLINE]
Free Article
17.

An activating mutation in sos-1 identifies its Dbl domain as a critical inhibitor of the epidermal growth factor receptor pathway during Caenorhabditis elegans vulval development.

Modzelewska K, Elgort MG, Huang J, Jongeward G, Lauritzen A, Yoon CH, Sternberg PW, Moghal N.

Mol Cell Biol. 2007 May;27(10):3695-707. Epub 2007 Mar 5.

PMID:
17339331
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M, Gelb BD.

Ann N Y Acad Sci. 2010 Dec;1214:99-121. doi: 10.1111/j.1749-6632.2010.05790.x. Epub 2010 Oct 19. Review.

PMID:
20958325
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.

Tidsskr Nor Laegeforen. 2009 Nov 19;129(22):2358-61. doi: 10.4045/tidsskr.09.0267. Norwegian.

PMID:
19935936
[PubMed - indexed for MEDLINE]
Free Article
20.

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
[PubMed - indexed for MEDLINE]
Free Article

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