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Page 1
Neurofibromatosis.
Edwards JH, Huson S, Ponder B. Edwards JH, et al. Lancet. 1988 Aug 6;2(8606):330. doi: 10.1016/s0140-6736(88)92377-x. Lancet. 1988. PMID: 2899736 No abstract available.
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: huson sm. 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.
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS. Upadhyaya M, et al. Among authors: huson sm. Hum Mol Genet. 1992 Dec;1(9):735-40. doi: 10.1093/hmg/1.9.735. Hum Mol Genet. 1992. PMID: 1302608
Molecular studies of the fragile X syndrome.
Knight SJ, Hirst MC, Roche A, Christodoulou Z, Huson SM, Winter R, Fitchett M, McKinley MJ, Lindenbaum RH, Nakahori Y, et al. Knight SJ, et al. Among authors: huson sm. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):217-23. doi: 10.1002/ajmg.1320430135. Am J Med Genet. 1992. PMID: 1605194
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT; English Specialist NF2 Research Group; Friedman JM, Evans DG. Hexter A, et al. J Med Genet. 2015 Oct;52(10):699-705. doi: 10.1136/jmedgenet-2015-103290. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275417
Close flanking markers for neurofibromatosis type I (NF1).
Upadhyaya M, Sarfarazi M, Huson SM, Broadhead W, Fryer A, Harper PS. Upadhyaya M, et al. Among authors: huson sm. Am J Hum Genet. 1989 Jan;44(1):41-7. Am J Hum Genet. 1989. PMID: 2491781 Free PMC article.
165 results