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Items: 1 to 50 of 142

1.

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

Waqar M, Huson S, Evans DG, Ealing J, Karabatsou K, George KJ, Soh C.

J Neurosurg Spine. 2018 Oct 1:1-7. doi: 10.3171/2018.7.SPINE171340. [Epub ahead of print]

PMID:
30485203
2.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

3.

Cutaneous neurofibromas: Current clinical and pathologic issues.

Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A.

Neurology. 2018 Jul 10;91(2 Supplement 1):S5-S13. doi: 10.1212/WNL.0000000000005792.

PMID:
29987130
4.

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).

Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, Morris AA, Jim C, Szumanska-Ryt K, Parkes LM, Haroon HA, Montaldi D, Webb N, Keane J, Castellanos FX, Silva AJ, Huson S, Williams S, Gareth Evans D, Emsley R, Green J; SANTA Consortium.

Mol Autism. 2018 Feb 22;9:12. doi: 10.1186/s13229-018-0190-z. eCollection 2018.

5.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12.

6.

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR.

Am J Med Genet A. 2017 May;173(5):1447-1449. doi: 10.1002/ajmg.a.38177. Epub 2017 Apr 3. No abstract available.

PMID:
28371307
7.

Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.

Garg S, Brooks A, Burns A, Burkitt-Wright E, Kerr B, Huson S, Emsley R, Green J.

Dev Med Child Neurol. 2017 May;59(5):544-549. doi: 10.1111/dmcn.13394. Epub 2017 Feb 4.

8.

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, North KN, Payne JM, Plasschaert E, Frazier TW, Weiss LA, Zhang Y, Gutmann DH, Constantino JN.

JAMA Psychiatry. 2016 Dec 1;73(12):1276-1284. doi: 10.1001/jamapsychiatry.2016.2600.

9.

Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme.

Ramsden RT, Freeman SR, Lloyd SK, King AT, Shi X, Ward CL, Huson SM, Mawman DJ, O'Driscoll MP, Evans DG, Rutherford SA; Manchester Neurofibromatosis Type 2 Service.

Otol Neurotol. 2016 Oct;37(9):1267-74. doi: 10.1097/MAO.0000000000001166.

PMID:
27525707
10.

Sex bias in autism spectrum disorder in neurofibromatosis type 1.

Garg S, Heuvelman H, Huson S, Tobin H, Green J; Northern UK NF1 Research Network.

J Neurodev Disord. 2016 Jul 26;8:26. doi: 10.1186/s11689-016-9159-4. eCollection 2016.

11.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network, Huson SM.

EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13.

12.

Cognition in children with neurofibromatosis type 1: data from a population-based study.

Lehtonen A, Garg S, Roberts SA, Trump D, Evans DG, Green J, Huson SM.

Dev Med Child Neurol. 2015 Jul;57(7):645-651. doi: 10.1111/dmcn.12734. Epub 2015 Mar 1.

13.

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Evans DG, Freeman S, Gokhale C, Wallace A, Lloyd SK, Axon P, Ward CL, Rutherford S, King A, Huson SM, Ramsden RT; Manchester NF2 service.

J Med Genet. 2015 Jun;52(6):422-4. doi: 10.1136/jmedgenet-2014-102973. Epub 2015 Feb 27.

PMID:
25725045
14.

Autism spectrum disorder profile in neurofibromatosis type I.

Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghgraef M, Vogels A, Evans DG, Legius E, Green J.

J Autism Dev Disord. 2015 Jun;45(6):1649-57. doi: 10.1007/s10803-014-2321-5.

PMID:
25475362
15.

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12.

16.

Progress of hearing loss in neurofibromatosis type 2: implications for future management.

Kontorinis G, Nichani J, Freeman SR, Rutherford SA, Mills S, King AT, Mawman D, Huson S, O'Driscoll M, Gareth Evans D, Lloyd SK.

Eur Arch Otorhinolaryngol. 2015 Nov;272(11):3143-50. doi: 10.1007/s00405-014-3317-7. Epub 2014 Oct 8.

PMID:
25294053
17.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

18.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H.

Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.

19.

Neurofibromatosis type 1 and autism spectrum disorder.

Garg S, Green J, Leadbitter K, Emsley R, Lehtonen A, Evans DG, Huson SM.

Pediatrics. 2013 Dec;132(6):e1642-8. doi: 10.1542/peds.2013-1868. Epub 2013 Nov 4.

PMID:
24190681
20.

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG.

J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.

21.

Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.

Khoo Bao JN, Ogunwale B, Huson SM, Ealing J, Whitehouse RW.

Eur Radiol. 2013 Dec;23(12):3418-21. doi: 10.1007/s00330-013-2941-8. Epub 2013 Jun 28.

PMID:
23812245
22.

Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1).

Hockett CW, Eelloo J, Huson SM, Roberts SA, Berry JL, Chaloner C, Rawer R, Mughal MZ.

J Musculoskelet Neuronal Interact. 2013 Mar;13(1):111-9.

23.

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study.

Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J.

Dev Med Child Neurol. 2013 Feb;55(2):139-45. doi: 10.1111/dmcn.12043. Epub 2012 Nov 16.

24.

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

Ben-Shachar S, Constantini S, Hallevi H, Sach EK, Upadhyaya M, Evans GD, Huson SM.

Eur J Hum Genet. 2013 May;21(5):535-9. doi: 10.1038/ejhg.2012.221. Epub 2012 Oct 10.

25.

Malignant peripheral nerve sheath tumours in inherited disease.

Evans DG, Huson SM, Birch JM.

Clin Sarcoma Res. 2012 Oct 4;2(1):17. doi: 10.1186/2045-3329-2-17.

26.

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity.

Evans DG, Bowers N, Huson SM, Wallace A.

Clin Genet. 2013 Jun;83(6):594-5. doi: 10.1111/cge.12007. Epub 2012 Sep 18. No abstract available.

PMID:
22989157
27.

Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence.

Lehtonen A, Howie E, Trump D, Huson SM.

Dev Med Child Neurol. 2013 Feb;55(2):111-25. doi: 10.1111/j.1469-8749.2012.04399.x. Epub 2012 Aug 31. Review.

28.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.

Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.

29.

Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas.

Hagel C, Stemmer-Rachamimov AO, Bornemann A, Schuhmann M, Nagel C, Huson S, Evans DG, Plotkin S, Matthies C, Kluwe L, Mautner VF.

Neuropathology. 2012 Dec;32(6):611-6. doi: 10.1111/j.1440-1789.2012.01306.x. Epub 2012 Mar 7.

PMID:
22394059
30.

Life expectancy in hereditary cancer predisposing diseases: an observational study.

Wilding A, Ingham SL, Lalloo F, Clancy T, Huson SM, Moran A, Evans DG.

J Med Genet. 2012 Apr;49(4):264-9. doi: 10.1136/jmedgenet-2011-100562. Epub 2012 Feb 23.

PMID:
22362873
31.

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.

Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, Hanemann CO, Harris G, Huson SM, Jacob A, Kalamarides M, Karajannis MA, Korf BR, Mautner VF, McClatchey AI, Miao H, Plotkin SR, Slattery W 3rd, Stemmer-Rachamimov AO, Welling DB, Wen PY, Widemann B, Hunter-Schaedle K, Giovannini M.

Am J Med Genet A. 2012 Jan;158A(1):24-41. doi: 10.1002/ajmg.a.34359. Epub 2011 Dec 2.

32.

Malignant peripheral nerve sheath tumours in NF1: improved survival in women and in recent years.

Ingham S, Huson SM, Moran A, Wylie J, Leahy M, Evans DG.

Eur J Cancer. 2011 Dec;47(18):2723-8. doi: 10.1016/j.ejca.2011.05.031. Epub 2011 Jun 21.

PMID:
21700447
33.

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.

Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM.

Eur J Hum Genet. 2011 Nov;19(11):1187-91. doi: 10.1038/ejhg.2011.113. Epub 2011 Jun 22. Erratum in: Eur J Hum Genet. 2013 Sep;21(9):1031.

34.

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.

Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG.

J Med Genet. 2011 Apr;48(4):261-5. doi: 10.1136/jmg.2010.085241. Epub 2011 Jan 28.

PMID:
21278391
35.

Back to the future: proceedings from the 2010 NF Conference.

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG.

Am J Med Genet A. 2011 Feb;155A(2):307-21. doi: 10.1002/ajmg.a.33804. Epub 2010 Dec 22.

36.

Utility of optic pathway glioma screening in young children with neurofibromatosis type I: questions generated by a clinical audit.

Pilling RF, Lloyd IC, Huson S.

Eye (Lond). 2010 Oct;24(10):1603-5. doi: 10.1038/eye.2010.99. Epub 2010 Aug 6.

PMID:
20689568
37.

Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.

Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F.

Am J Med Genet A. 2010 Feb;152A(2):327-32. doi: 10.1002/ajmg.a.33139.

PMID:
20082463
38.

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers.

Kissil JL, Blakeley JO, Ferner RE, Huson SM, Kalamarides M, Mautner VF, McCormick F, Morrison H, Packer R, Ramesh V, Ratner N, Rauen KA, Stevenson DA, Hunter-Schaedle K, North K.

Am J Med Genet A. 2010 Feb;152A(2):269-83. doi: 10.1002/ajmg.a.33189.

39.

Further genotype--phenotype correlations in neurofibromatosis 2.

Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG.

Clin Genet. 2010 Feb;77(2):163-70. doi: 10.1111/j.1399-0004.2009.01315.x. Epub 2009 Nov 23.

PMID:
19968670
40.

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.

J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.

PMID:
19443465
41.

Neurofibromatosis: emerging phenotypes, mechanisms and management.

Huson S.

Clin Med (Lond). 2008 Dec;8(6):611-7. No abstract available.

42.

What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?

Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers N, Huson SM, Wallace AJ.

J Neurosurg. 2008 Jan;108(1):92-6. doi: 10.3171/JNS/2008/108/01/0092.

PMID:
18173316
43.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.

Nat Genet. 2007 Aug;39(8):963-5. Epub 2007 Jul 15.

PMID:
17632510
44.

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Evans DG, Ramsden RT, Gokhale C, Bowers N, Huson SM, Wallace A.

Clin Genet. 2007 Apr;71(4):354-8.

PMID:
17470137
45.

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, Howard E, Evans DG.

J Med Genet. 2007 Aug;44(8):481-4. Epub 2007 Mar 16.

46.
47.

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.

Am J Hum Genet. 2007 Jan;80(1):140-51. Epub 2006 Dec 8.

48.

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.

J Med Genet. 2007 Feb;44(2):81-8. Epub 2006 Nov 14. Review.

49.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):724-30. Epub 2006 Aug 25.

50.

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, Baser M, Huson SM, Gareth Evans D, Ferner R.

Hum Mutat. 2006 Jul;27(7):716.

PMID:
16786508

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