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Items: 1 to 20 of 93

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. Review.

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.

The RASopathies.

Rauen KA.

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

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
5.
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
7.

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.

8.

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.

9.

RAS diseases in children.

Niemeyer CM.

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

10.

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.

11.

Mosaic RASopathies.

Hafner C, Groesser L.

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

12.

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
13.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M.

Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75.

14.

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. Review.

PMID:
23250860
15.

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. Review.

PMID:
20029240
16.

Pathogenetics of the RASopathies.

Tidyman WE, Rauen KA.

Hum Mol Genet. 2016 Oct 1;25(R2):R123-R132.

PMID:
27412009
17.

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.

18.

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. Review.

19.

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.

20.

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.

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