Rauen KA - Search Results

1

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.

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

Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.

Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD. Rauen KA, et al. Clin Genet. 2001 Nov;60(5):366-70. doi: 10.1034/j.1399-0004.2001.600508.x. Clin Genet. 2001. PMID: 11903338

4

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

5

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.

Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. Tartaglia M, et al. Among authors: rauen ka. Clin Genet. 2003 May;63(5):423-6. doi: 10.1034/j.1399-0004.2003.00076.x. Clin Genet. 2003. PMID: 12752577

6

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

7

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

8

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

9

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

10

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.

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