Health Professionals

Publications

Baser ME, Rai H, Wallace AJ, Evans DGR. Neurofibromatosis 2 and malignant mesothelioma in an elderly man. Familial Cancer 2005: in press.

Evans DGR, Maher ER, Baser ME. Age-related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms. J Med Genet 2005; in press

King A, Biggs N, Ramsden RT, Wallace A, Gillespie J, Evans DGR. Spinal tumors in neurofibromatosis type 2: is emerging knowledge of genotype predictive of natural history? J Neurosurg 2005; in press.

Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM,Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato L, Evans DG. The location of constitutional neurofibromatosis 2 (NF2) splice-site mutations is associated with the severity of NF2. J Med Genet 2005; in press.

Evans DGR, Baser ME, O'Reilly B, et al. Management of the patient and family with Neurofibromatosis 2: a consensus conference statement. Brit J Neurosurg 2005: in press

Evans DGR, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R. Incidence of Vestibular Schwannoma and Neurofibromatosis 2 in the North West of England over a 10 year period: higher incidence than previously thought. Otol Neurotol 2005; in press

Evans DG, Watson C, King A, Wallace A. Multiple meningiomatosis: differential involvement of NF2 in children and adults. J Med Genet 2005; 42(1):45-8

Wegner EA, Barrington SF, Kingston JE, Robinson RO, Ferner RE, Taj M, Smith MA, O'doherty MJ. The impact of PET scanning on management of paediatric oncology patients. Eur J Nucl Med Mol Imaging. 2005 Jan;32(1):23-30. Epub 2004 Jul 31.

Ryzenman, John M. MD; Pensak, Myles L. MD; Tew, John M. Jr. MD. Patient Perception of Comorbid Conditions After Acoustic Neuroma Management: Survey Results From the Acoustic Neuroma Association. Laryngoscope. 114(5):814-820, May 2004.

William H. Slattery MD, Marc S. Schwartz MD, Laurel M. Fisher PhD and Mark Oppenheimer MS. Acoustic neuroma surgical cost and outcome by hospital volume in California. Otolaryngology - Head and Neck Surgery
Volume 130, Issue 6 , June 2004, Pages 726-735

Tsilchorozidou T, Menko F, Lalloo F, Kidd A, Da Silva R, Smith P, Malcolmson A, Dore J, Madan K, Brown A, Yovos JG, Tsaligopoulos M, Vogiatzis N, Wallace A, Evans DGR. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis type 2. J Med Genet 2004; 41(7):529-34

Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Gillespie JE, Ramsden RT, Evans DG. Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study. Am J Hum Genet. 2004;75(2). [Epub ahead of print]

Ferner RE, Hughes RA, Hall SM, Upadhyaya M, Johnson MR. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. 2004 Nov;41(11):837-41

Listernick R, Ferner RE, Piersall L, Sharif S, Gutmann DH, Charrow J. Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology. 2004;63(10):1944-6.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutat. 2004 Feb;23(2):134-46.

Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet. 2004 Jan;41(1):35-41

Upadhyaya M, Thompson P, Han S, Cooper DN Neurofibromatosis type 1: a common familial cancer syndrome. Methods Mol Med. 2004;92:285-310.

Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P. Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet. 2004 Jun;115(1):69-80. Epub 2004 Apr 21.

Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C. Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet. 2004 Jun 15;127A(3):298-301.

Horan MP, Osborn M, Cooper DN, Upadhyaya M Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. Am J Med Genet. 2004 Dec 15;131A(3):227-31

Ferner RE, Hughes RA, Hall SM, Upadhyaya M, Johnson MR Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. 2004 Nov;41(11):837-41.

Gutmann DH, James CD, Poyhonen M, Louis DN, Ferner R, Guha A, Hariharan S, Viskochil D, Perry A. Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology. 2003 Nov 25;61(10):1397-400.

Warren C, James LA, Varley JM, Ramsden RT, Evans DG. Identifying Recurrent Regions of Chromosome Loss and Gain in 76 Vestibular Schwannomas Using Comparative Genomic Hybridisation (CGH). J Med Genet 2003; 40(11):802-6.

Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Evans DG. Genotype-phenotype correlations for cataracts in neurofibromatosis 2. J Med Genet. 2003;40(10):758-60

Mantripragada KK, Buckley PG, Benetkiewicz M, De Bustos C, Hirvela C, Jarbo C, Bruder CE, Wensman H, Mathiesen T, Nyberg G, Papi L, Collins VP, Ichimura K, Evans G, Dumanski JP. High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH. Int J Oncol. 2003; 22(3):615-22.

Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DGR. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 2003; 40: 459-63.

Szudek J, Evans DG, Friedman JM. Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Hum Genet 2003;112(3):289-97

Mohyuddin, A; Vokurka, EA; Evans GR; Ramsden, RT, Jackson A. Is Clinical Growth Index A Reliable Predictor of Tumour Growth In Vestibular Schwannomas? Clin Otolaryngol 2003; 28(2):85-90.

Woods R, Friedman JM, Evans DGR, Baser M, Joe H. Exploring the ‘2-Hit Hypothesis' in NF2: Tests of 2-Hit and 3 Hit models of vestibular schwannoma development. Genetic Epidemiology 2003; 24:265-72.

Evans DGR, Baser ME, O'Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Lancet Neurology 2003 submitted

Evans DGR, Scheithauer B, Komminoth P, Peltonen J. Neurofibromatosis 1, in WHO Endocrine tumors. IARC press, Lyon, in press.

Baser ME, Evans DGR, Gutmann DH. Neurofibromatosis 2. Current Opin Neurol 2003; 16:27-33.

Mohyuddin A, Vokurka EA, Evans GR, Ramsden RT, Jackson A. Is Clinical Growth Index A Reliable Predictor of Tumour Growth In Vestibular Schwannomas? Clin Otolaryngol 2003; 28(2):85-90.

Woods R, Friedman JM, Evans DGR, Baser M, Joe H. Exploring the ‘2-Hit Hypothesis' in Nf2: Tests of 2-Hit and 3 Hit models of vestibular schwannoma development. Genetic Epidemiology 2003; 24:265-72.

Zhao Y, Kumar RA, Baser M, Evans DGR, Kluwe L, Mautner VF, Parry DM, Rouleau GA, Wallace A, Joe H, Friedman JM. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genetic Epidemiology 2002; 23(3):245-59.

Baser ME, Friedman JM, Aeschilman D, Joe H, Wallace AJ, Ramsden RT, Evans DGR. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 2002; 71: 715-23.

Singhal S, Kerr B, Birch J, Lashford L, Evans DGR. Clinical characteristics of symptomatic sporadic and Nf1 related optic gliomata: implications for management. Archives Dis Child 2002; 87:65-70.

Upadhyaya M, Cooper DN (2002) Detection of NF1 mutations utilising the Protein Truncation Test (PTT). In Neurogenetics: Methods and Protocols. Eds Nicholas T Potter Humana Press

Oktenli C, Saglum M, Demirbas S, Thompson P, Upadhyaya M, Ulucan H, Koz C, Durukan A, Bozkurt A, Kocar IH, Gul D (2002) A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, unusual ocular and skeletal features. Clin Morphol (In Press)

Ferner RE, Gutmann DH, Consortium (2002) International Consensus Statement on malignant peripheral nerve sheath tumours in neurofibromatosis 1. Cancer Res 62: 1573-1577

Baser M, Friedman J, Evans DGR. Maternal gene effect in neurofibromatosis 2: fact or artifact? J Med Genet 2001; 783-4.

Lopez-Correa C, Dorscher M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E (2001) Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 10: 1387-1392

Han S, Cooper DN, Upadhyaya M (2001) Evaluation of denaturing high performance liquid chromatography (DHPLC) for mutational analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet , 109: 487-497

Osborn M, Cooper DN, Upadhyaya M (2000) Molecular analysis of the 5'- flanking region of the neurofibromatosis type 1( NF1) gene: identification of five sequence variants in NF1 patients. Clin Genet 57:221-224

King A, Upadhyaya M, Penney C, Doshi R (2000) A case of Miller_Dieker Syndrome in a family with neurofibromatosis type 1. Acta Neuropatholog 99:425-427

Horan Martin, Cooper DN, Upadhyaya M (2000) Site-specific methylation of the neurofibromatosis type 1 gene promoter bis rarely involved in NF1 gene inactivation in NF1-specific tumours. Human Genetics 107:33-39

Ruggieri M, D'Arrigo G, Abbate M, Distefano A, Upadhyaya M (2000) Multiple coronary artery aneurysms in a child with neurofibromatosis type 1. Eur J Pediatr 159:477-80

John A, Ruggieri M, Ferner R, UpadhyayaM (2000) A search for evidence of somatic mutation of the NF1 gene , J Med Genet 37: 44-49

Faravelli F, Upadhyaya M, Osborn M, Huson S, Hayward R, Winter R (1999) Unusual recurrence of brain tumours in a family with NF1. J Med. Genet 36:893-896

Osborn M, Upadhyaya M (1999) Evaluation of protein truncation test for mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown NF1

Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BAJ, Krawczak M, Cooper DN (1998) Gross deletions of the neurofibromatosis type 1( NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum. Genet. 102: 591-597

Maynard JH and Upadhyaya M (1998) High throughput screening for the detection of unknown mutations: Improved productivity using heteroduplex analysis. Biotechniques 25: 648-651

O'Donovan. M, Oefner PJ, Roberts SC, Jehannine A, Hoogendoorn B, Guy, C,Speight G, Upadhyaya M, Sommer SS, McGuffin P (1998) Blind analysis of denaturing high- performance liquid chromatography as a tool for mutation detection. Genomics 52: 44-49

Cowley GS, Murthy AE, Parry DM, Schneider G, Korf B, Upadhyaya M, Harper PS, MacCollin, Bernards A, Gusella JF (1998) Genetic variation in the 3' untranslated region of the neurofibromatosis gene: application to unequal allelic expression. Somat. Cell Mol Genet 24: 107-119

Cappione AJ, French BL, Skuse GR. A Potential Role for NF1 mRNA Editing in the Pathogenesis of NF1 Tumours. American Journal of Human Genetics 1997; 60:305-312

Upadhyaya M, Maynard J, Osborn M, Harper PS (1997) Six novel mutations in the NF1 gene. Hum Mutation,10 : 248-250

Upadhyaya M, Osborn M, Maynard J, Kim MR, Tamanoi F,Cooper DN (1997) Mutational and functional analysis of NF1. Hum Genet 99: 88-92

Maynard J, Krawczak M, Upadhyaya M (1997) Characterisation and significance of nine novel mutations in exon 16 of neurofibromatosis type 1 (NF1) gene. Hum. Genet 99: 674-676

Upadhyaya M, Osborn M, Maynard J, Harper PS (1996) Characterisation of 6 mutations in exon 37 of NF1 gene. Am J Med Genet 67: 421-423

Shen M, Harper PS, Upadhyaya M (1995) Amplification of the coding sequence of the NF1 gene from peripheral blood lymphocytes RNA. PCR Meth Appl 4: 311-313

Upadhyaya M, Maynard J, Osborn M, Huson S, Ponder M, Ponder B, Harper PS (1995) Characterisation of mutations in the NF1 gene. J Med Genet 32: 706-710

Shen MH, Harper PS, Upadhyaya M (1995) Molecular genetics of neurofibromatosis type 1 (NF1) region. J Med Genet 33: 2-17

Mann S, McDowell HP,Upadh yaya M, Fryer A (1995) Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet 32: 743-745

Shen MH, Upadhyaya M (1995) Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Am J Med Genet 60: 147-149

Upadhyaya M, Roberts S, Maynard J, Sorour E, Thompson P, Vaughan M, WIlkie A,Hughes H (1995) A large cytogenetic deletion in a patient with sporadic neurofibromatosis type 1 (NF1), associated with dysmorphism and developmental delay J Med Gen 33: 148-152

Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of neurofibromatosis type1 (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum Mutation4: 83-101

Shen M, Upadhyaya M (1993) A novel mutation in exon 28 of NF1 gene. Hum Genet 92: 410-412

Shen MH, Harper PS, Upadhyaya M (1993) Neurofibromatosis type 1 (NF1): The search for mutations by PCR heteroduplex analysis on Hydrolink gels. Hum Mol Genet 2: 1861-1864

Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS (1992) Analysis of mutations in neurofibromatosis type 1. Hum Mol Genet 1: 735- 740

Allanson JE, Upadhyaya M, Watson GH, Partington M, Lahey et al (1991) Watson syndrome: Is it a sub-type of neurofibromatosis? J Med Genet 28: 752-756

Jadayel D, Fain P Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CGP, Barker DF, Ponder BAJ (1990) Paternal origin of new mutations in von Recklinghausen neurofibromatosis (NF1). Nature 343: 558-559

Brooke JD, Upadhyaya M, Broadhead W, Rundle S, Walsh KV, Harley HG, Shaw DJ (1990) A Hind III polymorphism identified by DNA clone which maps to chromosome 17 (D17S245). Nucleic Acids Res 18: 1043

Upadhyaya M, Cherryson A, Broadhead W, Fryer A, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, Black D, Harper PS, O'Connell P, Collins FS (1990) A 90kb DNA deletionassociated with neurofibromatosis. J Med Genet 27: 738-741

Upadhyaya M, Sarfarazi M, Huson SM, Broadhead W, Fryer A, Harper PS (1989) Close flanking markers for neurofibromatosis type 1 (NF1). Am J Hum Genet 44: 41- 47

Upadhyaya M, Sarfarazi M, Huson S,Stephens K, Broadhead W, Harper PS (1987) Chromosome 17 markers and von Recklinghausen neurofibromatosis - a genetic linkage study in British population. Genomics 1: 358 – 360

Upadhyaya M, Sarfarazi M, Huson S, Harper PS (1987) Further exclusion data for von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers J Med Genet 24: 534 - 536

Seizinger BR, Rouleau GA, Ozelius Z, Lane AH, Faryniarz AG, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA, Collins FS, Hobbs WJ, Falcone JA, Roy JC, St.George-Hyslop PH, Tanzi RE, Bothwell MA, Upadhyaya M, Harper P Goldstein AE, Hoover DL, Bader JL, Spence MA, Mulvhill JJ, Aylsworth AS, Vance JM, Rossenwasswer GOD, Gaskell PC, Roses AD, Martuza RL, Breakefield XO and JF Gusella. (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589-594

Upadhyaya M, Harper P Goldstein AE, Hoover DL, Bader JL, Spence MA, Mulvhill JJ, Aylsworth AS, Vance JM, Rossenwasswer GOD, Gaskell PC, Roses AD, Martuza RL, Breakefield XO and JF Gusella. (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589-594