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Items: 1 to 20 of 245

1.

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
2.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG.

Eur J Endocrinol. 2016 Apr;174(4):R145-73. doi: 10.1530/EJE-15-0937. Epub 2015 Nov 17. Review.

3.

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.

4.

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
5.

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
6.

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.

7.

Hormone replacement therapy in children: The use of growth hormone and IGF-I.

Pfäffle R.

Best Pract Res Clin Endocrinol Metab. 2015 Jun;29(3):339-52. doi: 10.1016/j.beem.2015.04.009. Epub 2015 Apr 29. Review.

PMID:
26051295
8.

[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
9.

Bone status in genetic syndromes: a review.

Stagi S, Iurato C, Lapi E, Cavalli L, Brandi ML, de Martino M.

Hormones (Athens). 2015 Jan-Mar;14(1):19-31. Review.

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.

Oral manifestations of Noonan syndrome: review of the literature and a report of four cases.

Mallineni SK, Yung Yiu CK, King NM.

Rom J Morphol Embryol. 2014;55(4):1503-9. Review.

12.

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.

13.

Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review.

Horisberger M, Barg A, Wiewiorski M, Anderson AE, Valderrabano V.

Haemophilia. 2015 Jan;21(1):e105-8. doi: 10.1111/hae.12583. Epub 2014 Dec 4. Review. No abstract available.

PMID:
25471311
14.

RAS diseases in children.

Niemeyer CM.

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

15.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.

Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Review.

PMID:
25250515
16.
17.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.

Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

18.

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
19.

Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature.

Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G.

J Matern Fetal Neonatal Med. 2015 Aug;28(12):1457-60. doi: 10.3109/14767058.2014.956719. Epub 2015 Jan 8. Review.

PMID:
25142108
20.

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
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