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Items: 13

2.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
3.

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.

Axelrad ME, Schwartz DD, Katzenstein JM, Hopkins E, Gripp KW.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):115-22. doi: 10.1002/ajmg.c.30299. Epub 2011 Apr 14. Review.

PMID:
21495179
4.

Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.

Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF.

Pediatr Dev Pathol. 2015 May-Jun;18(3):237-44. doi: 10.2350/14-07-1525-CR.1. Epub 2015 Feb 10. Review.

PMID:
25668678
5.

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
7.

HRAS and the Costello syndrome.

Rauen KA.

Clin Genet. 2007 Feb;71(2):101-8. Review.

PMID:
17250658
8.

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
9.

Hindbrain herniation: A review of embryological theories.

Tubbs RS, Shoja MM, Ardalan MR, Shokouhi G, Loukas M.

Ital J Anat Embryol. 2008 Jan-Mar;113(1):37-46. Review.

PMID:
18491453
10.

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
11.

Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders.

Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK.

Clin Imaging. 2015 Mar-Apr;39(2):167-75. doi: 10.1016/j.clinimag.2014.10.012. Epub 2014 Oct 22. Review.

PMID:
25457569
12.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
13.

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. Epub 2015 Mar 4. Review.

PMID:
25683281

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