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Items: 1 to 20 of 78

1.

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.

Siegfried A, Cances C, Denuelle M, Loukh N, Tauber M, Cavé H, Delisle MB.

Am J Med Genet A. 2017 Apr;173(4):1061-1065. doi: 10.1002/ajmg.a.38108. Review.

PMID:
28328117
2.

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Pierpont EI, Semrud-Clikeman M, Pierpont ME.

Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14. Review.

PMID:
27862862
3.

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Morcaldi G, Bellini T, Rossi C, Maghnie M, Boccardo F, Bonioli E, Bellini C.

Lymphology. 2015 Sep;48(3):121-7. Review.

PMID:
26939159
4.

Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.

Schütte P, Möricke A, Zimmermann M, Bleckmann K, Reismüller B, Attarbaschi A, Mann G, Bodmer N, Niggli F, Schrappe M, Stanulla M, Kratz CP.

Eur J Med Genet. 2016 Mar;59(3):143-51. doi: 10.1016/j.ejmg.2015.12.008. Epub 2015 Dec 28. Review.

PMID:
26732628
5.

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A.

Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Review.

PMID:
26518681
6.

SHP2 sails from physiology to pathology.

Tajan M, de Rocca Serra A, Valet P, Edouard T, Yart A.

Eur J Med Genet. 2015 Oct;58(10):509-25. doi: 10.1016/j.ejmg.2015.08.005. Epub 2015 Sep 2. Review.

PMID:
26341048
7.

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M.

Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Review.

PMID:
26249544
8.

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. Epub 2015 Jun 19. Review.

9.

[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
10.

The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review.

Giacomozzi C, Deodati A, Shaikh MG, Ahmed SF, Cianfarani S.

Horm Res Paediatr. 2015;83(3):167-76. doi: 10.1159/000371635. Epub 2015 Feb 21. Review.

11.

The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

Noonan JA, Kappelgaard AM.

Horm Res Paediatr. 2015;83(3):157-66. doi: 10.1159/000369012. Epub 2014 Dec 10. Review.

12.

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. Epub 2014 Aug 30. Review.

PMID:
25178522
13.

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
14.

Etiologies and early diagnosis of short stature and growth failure in children and adolescents.

Rogol AD, Hayden GF.

J Pediatr. 2014 May;164(5 Suppl):S1-14.e6. doi: 10.1016/j.jpeds.2014.02.027. Review.

PMID:
24731744
15.
16.

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.

Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Review.

PMID:
24311457
17.

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

Bader-Meunier B, Cavé H, Jeremiah N, Magerus A, Lanzarotti N, Rieux-Laucat F, Cormier-Daire V.

Semin Arthritis Rheum. 2013 Oct;43(2):217-9. doi: 10.1016/j.semarthrit.2013.04.009. Epub 2013 Jun 17. Review.

PMID:
23786871
18.

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. Epub 2013 Jun 10. Review.

PMID:
23756181
19.

Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

Hendriks WJ, Pulido R.

Biochim Biophys Acta. 2013 Oct;1832(10):1673-96. doi: 10.1016/j.bbadis.2013.05.022. Epub 2013 May 23. Review.

20.

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

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