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Items: 1 to 20 of 26

1.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW.

Am J Med Genet A. 2011 Mar;155A(3):486-507. doi: 10.1002/ajmg.a.33857. Epub 2011 Feb 22.

PMID:
21344638
2.

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
3.

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
4.

Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.

Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF.

Pediatr Dev Pathol. 2015 May-Jun;18(3):237-44. doi: 10.2350/14-07-1525-CR.1. Epub 2015 Feb 10. Review.

PMID:
25668678
5.

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
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.

Further delineation of cardiac abnormalities in Costello syndrome.

Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI Jr, Nicholson L.

Am J Med Genet. 2002 Aug 1;111(2):115-29. Review.

PMID:
12210337
8.

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
9.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

10.
11.

[Molecular genetics of congenital anomaly syndromes (RAS/MAPK syndromes) complicated with malignancies].

Aoki Y, Matsubara Y.

Rinsho Ketsueki. 2010 Jul;51(7):532-8. Review. Japanese. No abstract available.

PMID:
20693773
12.

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.

13.

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
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.

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.

Axelrad ME, Schwartz DD, Katzenstein JM, Hopkins E, Gripp KW.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):115-22. doi: 10.1002/ajmg.c.30299. Epub 2011 Apr 14. Review.

PMID:
21495179
17.

[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
18.

HRAS and the Costello syndrome.

Rauen KA.

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

PMID:
17250658
19.

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.

Wright EM, Kerr B.

Arch Dis Child. 2010 Sep;95(9):724-30. doi: 10.1136/adc.2009.160069. Epub 2010 Apr 6. Review.

PMID:
20371595
20.

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F.

Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171. Review.

PMID:
24283439

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