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Items: 1 to 20 of 114

1.

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.

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

3.

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
4.

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.

5.

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.

6.

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
7.

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.

8.

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.

9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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.

16.

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
17.

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.

18.

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.

19.

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
20.

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.

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