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The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
Blakeley JO, Bakker A, Barker A, Clapp W, Ferner R, Fisher MJ, Giovannini M, Gutmann DH, Karajannis MA, Kissil JL, Legius E, Lloyd AC, Packer RJ, Ramesh V, Riccardi VM, Stevenson DA, Ullrich NJ, Upadhyaya M, Stemmer-Rachamimov A. Blakeley JO, et al. Among authors: upadhyaya m. Am J Med Genet A. 2017 Jun;173(6):1714-1721. doi: 10.1002/ajmg.a.38239. Epub 2017 Apr 24. Am J Med Genet A. 2017. PMID: 28436162 Free article.
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al. Allanson JE, et al. Among authors: upadhyaya m. J Med Genet. 1991 Nov;28(11):752-6. doi: 10.1136/jmg.28.11.752. J Med Genet. 1991. PMID: 1770531 Free PMC article.
A 90 kb DNA deletion associated with neurofibromatosis type 1.
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al. Upadhyaya M, et al. J Med Genet. 1990 Dec;27(12):738-41. doi: 10.1136/jmg.27.12.738. J Med Genet. 1990. PMID: 2127432 Free PMC article.
Molecular genetics of neurofibromatosis type 1 (NF1).
Shen MH, Harper PS, Upadhyaya M. Shen MH, et al. Among authors: upadhyaya m. J Med Genet. 1996 Jan;33(1):2-17. doi: 10.1136/jmg.33.1.2. J Med Genet. 1996. PMID: 8825042 Free PMC article. Review.
281 results