Rauen KA - Search Results

1

Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome.

Rooney GE, Goodwin AF, Depeille P, Sharir A, Schofield CM, Yeh E, Roose JP, Klein OD, Rauen KA, Weiss LA, Ullian EM. Rooney GE, et al. Among authors: rauen ka. J Neurosci. 2016 Jan 6;36(1):142-52. doi: 10.1523/JNEUROSCI.1547-15.2016. J Neurosci. 2016. PMID: 26740656 Free PMC article.

2

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. Klein OD, et al. Among authors: rauen ka. Clin Genet. 2004 Jun;65(6):477-82. doi: 10.1111/j.0009-9163.2004.00261.x. Clin Genet. 2004. PMID: 15151506

3

Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.

Klein OD, Cotter PD, Schmidt AM, Bick DP, Tidyman WE, Albertson DG, Pinkel D, Rauen KA. Klein OD, et al. Among authors: rauen ka. Am J Med Genet A. 2005 Nov 1;138(4):349-54. doi: 10.1002/ajmg.a.30867. Am J Med Genet A. 2005. PMID: 16200635

4

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.

5

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA. Klein OD, et al. Among authors: rauen ka. Clin Genet. 2007 Mar;71(3):260-6. doi: 10.1111/j.1399-0004.2007.00757.x. Clin Genet. 2007. PMID: 17309649

6

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.

7

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH. Rauen KA, et al. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495172 Free PMC article.

8

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.

Tidyman WE, Lee HS, Rauen KA. Tidyman WE, et al. Among authors: rauen ka. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):104-14. doi: 10.1002/ajmg.c.30298. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495178

9

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA. Goodwin AF, et al. Among authors: rauen ka. Clin Genet. 2013 Jun;83(6):539-44. doi: 10.1111/cge.12005. Epub 2012 Sep 27. Clin Genet. 2013. PMID: 22946697 Free PMC article.

10

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.

Goodwin AF, Tidyman WE, Jheon AH, Sharir A, Zheng X, Charles C, Fagin JA, McMahon M, Diekwisch TG, Ganss B, Rauen KA, Klein OD. Goodwin AF, et al. Among authors: rauen ka. Hum Mol Genet. 2014 Feb 1;23(3):682-92. doi: 10.1093/hmg/ddt455. Epub 2013 Sep 20. Hum Mol Genet. 2014. PMID: 24057668 Free PMC article.

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