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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. Among authors: viskochil dh. 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
Double inactivation of NF1 in tibial pseudarthrosis.
Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D'Astous JL, Santora SD, Viskochil DH. Stevenson DA, et al. Among authors: d astous jl, viskochil dh. Am J Hum Genet. 2006 Jul;79(1):143-8. doi: 10.1086/504441. Epub 2006 May 10. Am J Hum Genet. 2006. PMID: 16773574 Free PMC article.
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: viskochil d. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
Neurofibromatosis type 1 is a genetic skeletal disorder.
Stevenson DA, Viskochil DH, Carey JC. Stevenson DA, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2082-3; author reply 2084. doi: 10.1002/ajmg.a.31758. Am J Med Genet A. 2007. PMID: 17702004 No abstract available.
267 results