Rauen KA - Search Results

1

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.

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 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

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Rodriguez-Viciana P, et al. Among authors: rauen ka. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science.1124642. Epub 2006 Jan 26. Science. 2006. PMID: 16439621

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

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.

8

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE. Anastasaki C, et al. Among authors: rauen ka. Hum Mol Genet. 2009 Jul 15;18(14):2543-54. doi: 10.1093/hmg/ddp186. Epub 2009 Apr 17. Hum Mol Genet. 2009. PMID: 19376813 Free PMC article.

9

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.

10

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.

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