Tidyman WE - Search Results

1

Peripheral muscle weakness in RASopathies.

Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA. Stevenson DA, et al. Among authors: tidyman we. Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324. Muscle Nerve. 2012. PMID: 22907230

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: tidyman we. 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: tidyman we. 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: tidyman we. 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: tidyman we. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science.1124642. Epub 2006 Jan 26. Science. 2006. PMID: 16439621

6

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

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

7

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

Tidyman WE, Rauen KA. Tidyman WE, et al. 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.

8

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. Rauen KA, et al. Among authors: tidyman we. Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342. Am J Med Genet A. 2010. PMID: 20358587 Free PMC article.

9

Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.

Tidyman WE, Rauen KA. Tidyman WE, et al. Methods Mol Biol. 2010;661:433-47. doi: 10.1007/978-1-60761-795-2_27. Methods Mol Biol. 2010. PMID: 20812000

10

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. 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

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