Ferner RE - Search Results

1

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.

Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I. Evans DG, et al. Among authors: ferner re. Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361920 Free PMC article.

2

Management of the patient and family with neurofibromatosis 2: a consensus conference statement.

Evans DG, Baser ME, O'Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R. Evans DG, et al. Br J Neurosurg. 2005 Feb;19(1):5-12. doi: 10.1080/02688690500081206. Br J Neurosurg. 2005. PMID: 16147576 Review.

3

Neurofibromatosis 1.

Ferner RE. Ferner RE. Eur J Hum Genet. 2007 Feb;15(2):131-8. doi: 10.1038/sj.ejhg.5201676. Epub 2006 Sep 6. Eur J Hum Genet. 2007. PMID: 16957683 Review.

4

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Ferner RE, et al. J Med Genet. 2007 Feb;44(2):81-8. doi: 10.1136/jmg.2006.045906. Epub 2006 Nov 14. J Med Genet. 2007. PMID: 17105749 Free PMC article. Review.

5

Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1.

Leonard JR, Ferner RE, Thomas N, Gutmann DH. Leonard JR, et al. Among authors: ferner re. J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1404-6. doi: 10.1136/jnnp.2007.121509. Epub 2007 Jul 17. J Neurol Neurosurg Psychiatry. 2007. PMID: 17635968 Free PMC article.

6

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

7

Further genotype--phenotype correlations in neurofibromatosis 2.

Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Selvanathan SK, et al. Clin Genet. 2010 Feb;77(2):163-70. doi: 10.1111/j.1399-0004.2009.01315.x. Epub 2009 Nov 23. Clin Genet. 2010. PMID: 19968670

8

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Sharif S, et al. J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278392

9

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG. Smith MJ, et al. Among authors: ferner re. Neurogenetics. 2012 May;13(2):141-5. doi: 10.1007/s10048-012-0319-8. Epub 2012 Mar 22. Neurogenetics. 2012. PMID: 22434358

10

The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2.

Hornigold RE, Golding JF, Leschziner G, Obholzer R, Gleeson MJ, Thomas N, Walsh D, Saeed S, Ferner RE. Hornigold RE, et al. Among authors: ferner re. J Neurol Surg B Skull Base. 2012 Apr;73(2):104-11. doi: 10.1055/s-0032-1301396. J Neurol Surg B Skull Base. 2012. PMID: 23543835 Free PMC article.

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