Stevenson DA - Search Results

1

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.

2

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. Stevenson DA, et al. Am J Med Genet A. 2004 Sep 15;130A(1):88-91. doi: 10.1002/ajmg.a.30200. Am J Med Genet A. 2004. PMID: 15368501

3

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. Stevenson DA, et al. J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027. J Pediatr. 2004. PMID: 15580214

4

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M. Stevenson DA, et al. Am J Med Genet A. 2006 Dec 15;140(24):2797-801. doi: 10.1002/ajmg.a.31528. Am J Med Genet A. 2006. PMID: 17103435 Free PMC article.

5

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST. Stevenson DA, et al. Am J Med Genet A. 2007 May 15;143A(10):1053-9. doi: 10.1002/ajmg.a.31715. Am J Med Genet A. 2007. PMID: 17431905 Free PMC article.

6

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. McDonald J, et al. Among authors: stevenson da. Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16. Clin Genet. 2011. PMID: 21158752

7

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

8

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

9

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.

10

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Wooderchak-Donahue W, Stevenson DA, McDonald J, Grimmer JF, Gedge F, Bayrak-Toydemir P. Wooderchak-Donahue W, et al. Among authors: stevenson da. Eur J Med Genet. 2012 Feb;55(2):91-5. doi: 10.1016/j.ejmg.2011.11.008. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22200646

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