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Items: 1 to 20 of 126

1.

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.

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: 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.

4.
5.

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
6.

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
7.

A review of craniofacial and dental findings of the RASopathies.

Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S.

Orthod Craniofac Res. 2017 Jun;20 Suppl 1:32-38. doi: 10.1111/ocr.12144. Review.

PMID:
28643916
8.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T.

Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183.

9.

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
10.

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14.

11.

Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders.

Ryu HH, Lee YS.

Neurobiol Learn Mem. 2016 Nov;135:13-21. doi: 10.1016/j.nlm.2016.06.006. Epub 2016 Jun 11. Review.

PMID:
27296701
12.

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.

13.

RAS diseases in children.

Niemeyer CM.

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

14.

Malignancy in Noonan syndrome and related disorders.

Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.

Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Epub 2015 Mar 4. Review.

PMID:
25683281
15.

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.

16.

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12.

17.

Pathogenetics of the RASopathies.

Tidyman WE, Rauen KA.

Hum Mol Genet. 2016 Oct 1;25(R2):R123-R132. Epub 2016 Jul 12.

PMID:
27412009
18.

Modeling RASopathies with Genetically Modified Mouse Models.

Hernández-Porras I, Guerra C.

Methods Mol Biol. 2017;1487:379-408.

PMID:
27924582
19.

[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
20.

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

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