Rauen KA - Search Results

1

Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA. Adviento B, et al. Among authors: rauen ka. J Med Genet. 2014 Jan;51(1):10-20. doi: 10.1136/jmedgenet-2013-101951. Epub 2013 Oct 7. J Med Genet. 2014. PMID: 24101678 Free PMC article.

2

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.

Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M. Rauen KA, et al. Am J Med Genet. 2000 Jul 31;93(3):219-22. doi: 10.1002/1096-8628(20000731)93:3<219::aid-ajmg12>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10925386

3

Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?

Rauen KA, Albertson DG, Pinkel D, Cotter PD. Rauen KA, et al. Am J Med Genet. 2002 Jun 1;110(1):51-6. doi: 10.1002/ajmg.10478. Am J Med Genet. 2002. PMID: 12116271

4

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. Estep AL, et al. Among authors: rauen ka. Am J Med Genet A. 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. Am J Med Genet A. 2006. PMID: 16372351

5

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.

Rauen KA. Rauen KA. Am J Med Genet A. 2006 Aug 1;140(15):1681-3. doi: 10.1002/ajmg.a.31315. Am J Med Genet A. 2006. PMID: 16804887 No abstract available.

6

HRAS and the Costello syndrome.

Rauen KA. Rauen KA. Clin Genet. 2007 Feb;71(2):101-8. doi: 10.1111/j.1399-0004.2007.00743.x. Clin Genet. 2007. PMID: 17250658 Review.

7

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O. Senawong T, et al. Among authors: rauen ka. Hum Mol Genet. 2008 Feb 1;17(3):419-30. doi: 10.1093/hmg/ddm319. Epub 2007 Nov 2. Hum Mol Genet. 2008. PMID: 17981815

8

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.

Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Rauen KA, et al. Am J Med Genet A. 2008 May 1;146A(9):1205-17. doi: 10.1002/ajmg.a.32276. Am J Med Genet A. 2008. PMID: 18412122 No abstract available.

9

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

Tidyman WE, Rauen KA. Tidyman WE, et al. Among authors: rauen ka. Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Expert Rev Mol Med. 2008. PMID: 19063751 Review.

10

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA. Tidyman WE, et al. Among authors: rauen ka. Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Epub 2009 May 19. Curr Opin Genet Dev. 2009. PMID: 19467855 Free PMC article. Review.

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