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Items: 1 to 20 of 263

1.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

2.

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

Zhang J, Shen J, Cheng R, Ni C, Liang J, Li M, Yao Z.

Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27. Review.

PMID:
27484170
3.

Primary Care of the Prostate Cancer Survivor.

Noonan EM, Farrell TW.

Am Fam Physician. 2016 May 1;93(9):764-70. Review.

PMID:
27175954
4.

A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review.

Mareri A, Iezzi M, Salvatore A, Ligas C, D'Alessandro E.

J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):857-62. doi: 10.1515/jpem-2015-0427. Review.

PMID:
27054600
5.

Effects of Growth Hormone on Bone.

Tritos NA, Klibanski A.

Prog Mol Biol Transl Sci. 2016;138:193-211. doi: 10.1016/bs.pmbts.2015.10.008. Epub 2016 Jan 6. Review.

PMID:
26940392
6.

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
7.

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
8.

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.

9.

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
10.

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.

11.

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
12.

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

McWilliams GD, SantaCruz K, Hart B, Clericuzio C.

Am J Med Genet A. 2016 Jan;170A(1):195-201. doi: 10.1002/ajmg.a.37379. Epub 2015 Sep 17. Review.

PMID:
26377682
13.

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Landis BJ, Cooper DS, Hinton RB.

Cardiol Young. 2016 Jan;26(1):30-52. doi: 10.1017/S1047951115001389. Epub 2015 Sep 8. Review.

14.

Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.

Richards C, Jones C, Groves L, Moss J, Oliver C.

Lancet Psychiatry. 2015 Oct;2(10):909-16. doi: 10.1016/S2215-0366(15)00376-4. Epub 2015 Sep 1. Review.

PMID:
26341300
15.

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
16.

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
17.

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.

18.

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
19.

[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
20.

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.

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