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Items: 1 to 20 of 69

1.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

2.

Functions of Shp2 in cancer.

Zhang J, Zhang F, Niu R.

J Cell Mol Med. 2015 Sep;19(9):2075-83. doi: 10.1111/jcmm.12618. Review.

3.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.

Rev Neurol. 2015 May 1;60(9):408-12. Review. Spanish.

PMID:
25912702
4.

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. Review.

PMID:
25683281
5.
6.

Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase.

Kamiya N, Kim HK, King PD.

Bone. 2014 Dec;69:55-60. doi: 10.1016/j.bone.2014.08.015. Review.

PMID:
25178522
7.

Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis.

Huang WQ, Lin Q, Zhuang X, Cai LL, Ruan RS, Lu ZX, Tzeng CM.

Curr Cancer Drug Targets. 2014;14(6):567-88. Review.

PMID:
25039348
8.

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.

Nitoiu D, Etheridge SL, Kelsell DP.

Cell Commun Adhes. 2014 Jun;21(3):129-40. doi: 10.3109/15419061.2014.908854. Review.

PMID:
24738885
9.

Modeling inherited cardiac disorders.

Sallam K, Kodo K, Wu JC.

Circ J. 2014;78(4):784-94. Review.

10.

When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.

Sen-Chowdhry S, McKenna WJ.

Cell Commun Adhes. 2014 Feb;21(1):3-11. doi: 10.3109/15419061.2013.876415. Review.

PMID:
24460197
11.

The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.

Krejci P.

Mutat Res Rev Mutat Res. 2014 Jan-Mar;759:40-8. doi: 10.1016/j.mrrev.2013.11.001. Review.

PMID:
24295726
12.

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
13.

Protein tyrosine phosphatases as novel targets in breast cancer therapy.

Nunes-Xavier CE, Martín-Pérez J, Elson A, Pulido R.

Biochim Biophys Acta. 2013 Dec;1836(2):211-26. doi: 10.1016/j.bbcan.2013.06.001. Review.

PMID:
23756181
14.

Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.

Farrell DF.

Pediatr Neurol. 2012 Nov;47(5):330-6. doi: 10.1016/j.pediatrneurol.2012.07.006. Review.

PMID:
23044013
15.

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

Karbach J, Coerdt W, Wagner W, Bartsch O.

Am J Med Genet A. 2012 Sep;158A(9):2283-9. doi: 10.1002/ajmg.a.35493. Review.

PMID:
22848035
16.

Dermatologic manifestations of endocrine disorders.

Quatrano NA, Loechner KJ.

Curr Opin Pediatr. 2012 Aug;24(4):487-93. doi: 10.1097/MOP.0b013e328355a31b. Review.

PMID:
22781138
17.

PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

Lauriol J, Kontaridis MI.

Trends Cardiovasc Med. 2011 May;21(4):97-104. doi: 10.1016/j.tcm.2012.03.006. Review.

18.

The neural crest in cardiac congenital anomalies.

Keyte A, Hutson MR.

Differentiation. 2012 Jul;84(1):25-40. doi: 10.1016/j.diff.2012.04.005. Review.

19.

SHP-2 regulates growth factor dependent vascular signalling and function.

Mannell H, Krotz F.

Mini Rev Med Chem. 2014;14(6):471-83. Review.

PMID:
22512561
20.

Diagnosis and treatment of uveal effusion syndrome: a case series and literature review.

Chan W, Fang-tian D, Hua Z, You-xin C, Rong-ping D, Ke T.

Chin Med Sci J. 2011 Dec;26(4):231-6. Review.

PMID:
22218051
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