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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Among authors: stevenson da. Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891884 Free PMC article.
Familial clustering of hemangiomas.
Grimmer JF, Williams MS, Pimentel R, Mineau G, Wood GM, Bayrak-Toydemir P, Stevenson DA. Grimmer JF, et al. Among authors: stevenson da. Arch Otolaryngol Head Neck Surg. 2011 Aug;137(8):757-60. doi: 10.1001/archoto.2011.91. Arch Otolaryngol Head Neck Surg. 2011. PMID: 21844408
Hemangioma is associated with atopic disease.
Grimmer JF, Williams MS, Pimentel R, Mineau G, Wood GM, Bayrak-Toydemir P, Stevenson DA. Grimmer JF, et al. Among authors: stevenson da. Otolaryngol Head Neck Surg. 2012 Feb;146(2):206-9. doi: 10.1177/0194599811427242. Epub 2011 Oct 26. Otolaryngol Head Neck Surg. 2012. PMID: 22031593
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. Damjanovich K, et al. Among authors: stevenson da. Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85. Orphanet J Rare Dis. 2011. PMID: 22192717 Free PMC article.
Mosaicism in Stickler syndrome.
Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P. Stevenson DA, et al. Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30. Eur J Med Genet. 2012. PMID: 22522174 Free PMC article.
Candidate locus analysis for PHACE syndrome.
Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. Mitchell S, et al. Among authors: stevenson da. Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27. Am J Med Genet A. 2012. PMID: 22544659 Free PMC article.
198 results