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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: thomas n. 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.
English consensus protocol evaluating candidacy for auditory brainstem and cochlear implantation in neurofibromatosis type 2.
Tysome JR, Axon PR, Donnelly NP, Evans DG, Ferner RE, O'Connor AF, Freeman SR, Gleeson M, Halliday D, Harris F, Jiang D, Kerr R, King A, Knight RD, Lloyd SK, Macfarlane R, Mannion R, Mawman D, O'Driscoll M, Parry A, Ramsden J, Ramsden R, Rutherford SA, Saeed SR, Thomas N, Vanat ZH. Tysome JR, et al. Among authors: thomas n. Otol Neurotol. 2013 Dec;34(9):1743-7. doi: 10.1097/MAO.0b013e3182a1a8b4. Otol Neurotol. 2013. PMID: 24136318
Neurofibroma of the cervical spine in infants.
Lavrador JP, Lascelles K, Ferner R, Thomas N, Zebian B. Lavrador JP, et al. Among authors: thomas n. Childs Nerv Syst. 2016 Dec;32(12):2277-2279. doi: 10.1007/s00381-016-3253-5. Epub 2016 Sep 26. Childs Nerv Syst. 2016. PMID: 27669696 No abstract available.
3,632 results