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Results: 1 to 20 of 76

1.

Anesthetic management of Costello syndrome: a case report.

Williams C.

AANA J. 2014 Apr;82(2):108-13.

PMID:
24902452
[PubMed - indexed for MEDLINE]
2.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

PMID:
24451042
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. Epub 2013 Dec 1. Review.

PMID:
24295726
[PubMed - indexed for MEDLINE]
4.

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner I, Burkitt Wright EM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts E, Looijenga LH, Kerr B, Wilkie AO, Goriely A.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20.

PMID:
24259709
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

Wey M, Lee J, Jeong SS, Kim J, Heo J.

Biochemistry. 2013 Nov 26;52(47):8465-79. doi: 10.1021/bi400679q. Epub 2013 Nov 13.

PMID:
24224811
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculature.

Mayes DA, Rizvi TA, Titus-Mitchell H, Oberst R, Ciraolo GM, Vorhees CV, Robinson AP, Miller SD, Cancelas JA, Stemmer-Rachamimov AO, Ratner N.

Cell Rep. 2013 Sep 26;4(6):1197-212. doi: 10.1016/j.celrep.2013.08.011. Epub 2013 Sep 12.

PMID:
24035394
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Two new cases with Costello syndrome.

Aytekin S, Alyamac G.

Dermatol Online J. 2013 Aug 15;19(8):19267.

PMID:
24021445
[PubMed - indexed for MEDLINE]
Free Article
9.

Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.

Schwartz DD, Katzenstein JM, Hopkins E, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME.

Am J Med Genet A. 2013 Sep;161(9):2258-65. doi: 10.1002/ajmg.a.36078. Epub 2013 Aug 5.

PMID:
23918324
[PubMed - indexed for MEDLINE]
10.

The RASopathies.

Rauen KA.

Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Review.

PMID:
23875798
[PubMed - indexed for MEDLINE]
11.

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Rankin J, Short J, Turnpenny P, Castle B, Hanemann CO.

Am J Med Genet A. 2013 Aug;161A(8):2027-9. doi: 10.1002/ajmg.a.36005. Epub 2013 Jun 27.

PMID:
23813970
[PubMed - indexed for MEDLINE]
12.

Orthopedic manifestations and implications for individuals with Costello syndrome.

Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW.

Am J Med Genet A. 2013 Aug;161A(8):1940-9. doi: 10.1002/ajmg.a.36047. Epub 2013 Jun 27.

PMID:
23813656
[PubMed - indexed for MEDLINE]
13.

Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

Takahashi M, Ohashi H.

Congenit Anom (Kyoto). 2013 Jun;53(2):67-72. doi: 10.1111/cga.12004.

PMID:
23751039
[PubMed - indexed for MEDLINE]
14.

Keratoconus in Costello syndrome.

Gripp KW, Demmer LA.

Am J Med Genet A. 2013 May;161A(5):1132-6. doi: 10.1002/ajmg.a.35816. Epub 2013 Mar 13.

PMID:
23494969
[PubMed - indexed for MEDLINE]
15.

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

McCormick EM, Hopkins E, Conway L, Catalano S, Hossain J, Sol-Church K, Stabley DL, Gripp KW.

Genet Med. 2013 Jul;15(7):554-7. doi: 10.1038/gim.2013.6. Epub 2013 Feb 21.

PMID:
23429430
[PubMed - indexed for MEDLINE]
16.

Antioxidant effects of potassium ascorbate with ribose in costello syndrome.

Anichini C, Lotti F, Pietrini A, Lo Rizzo C, Longini M, Proietti F, Felici C, Buonocore G.

Anticancer Res. 2013 Feb;33(2):691-5.

PMID:
23393369
[PubMed - indexed for MEDLINE]
17.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G.

Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17.

PMID:
23335589
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome.

Pernet C, Baumann C, Cavé H, Guillot B, Bessis D.

Br J Dermatol. 2013 Apr;168(4):903-4. doi: 10.1111/bjd.12103. Epub 2013 Jan 18. No abstract available.

PMID:
23106483
[PubMed - indexed for MEDLINE]
20.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.

Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.

PMID:
22926243
[PubMed - indexed for MEDLINE]

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