Stevenson DA - Search Results

1

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: stevenson da. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

2

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Balestrazzi P, Boni S, Buske A, Korf BR, Niimura M, Pivnick EK, Schorry EK, Short MP, Tenconi R, Tonsgard JH, Carey JC. Stevenson DA, et al. Am J Med Genet. 1999 Jun 11;84(5):413-9. doi: 10.1002/(sici)1096-8628(19990611)84:5<413::aid-ajmg5>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10360395

3

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.

Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL. Stevenson DA, et al. Am J Med Genet A. 2004 Jan 15;124A(2):158-64. doi: 10.1002/ajmg.a.20370. Am J Med Genet A. 2004. PMID: 14699614

4

6q subtelomeric deletion: is there a recognizable syndrome?

Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF Jr, Longo N. Stevenson DA, et al. Clin Dysmorphol. 2004 Apr;13(2):103-106. Clin Dysmorphol. 2004. PMID: 15057127

5

Contribution of malformations and genetic disorders to mortality in a children's hospital.

Stevenson DA, Carey JC. Stevenson DA, et al. Am J Med Genet A. 2004 May 1;126A(4):393-7. doi: 10.1002/ajmg.a.20409. Am J Med Genet A. 2004. PMID: 15098237

6

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

7

Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography.

Stevenson DA, Moyer-Mileur LJ, Carey JC, Quick JL, Hoff CJ, Viskochil DH. Stevenson DA, et al. J Musculoskelet Neuronal Interact. 2005 Jun;5(2):145-9. J Musculoskelet Neuronal Interact. 2005. PMID: 15951630 Free article.

8

Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.

Stevenson DA, Pysher TJ, Ward RM, Carey JC. Stevenson DA, et al. Am J Med Genet A. 2006 Feb 15;140(4):368-72. doi: 10.1002/ajmg.a.31093. Am J Med Genet A. 2006. PMID: 16419129 Free PMC article.

9

Clinical characteristics and natural history of Freeman-Sheldon syndrome.

Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Stevenson DA, et al. Pediatrics. 2006 Mar;117(3):754-62. doi: 10.1542/peds.2005-1219. Pediatrics. 2006. PMID: 16510655

10

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Stevenson DA, Viskochil DH, Rope AF, Carey JC. Stevenson DA, et al. Clin Genet. 2006 Mar;69(3):246-53. doi: 10.1111/j.1399-0004.2006.00576.x. Clin Genet. 2006. PMID: 16542390 Free PMC article.

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