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1
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0023854155
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Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)
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Martuza RL, Eldridge R: Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med 1988, 318:684-688.
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Martuza, R.L.1
Eldridge, R.2
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2
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0025455386
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NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update
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Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R: NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 1990, 113:39-52.
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Mulvihill, J.J.1
Parry, D.M.2
Sherman, J.L.3
Pikus, A.4
Kaiser-Kupfer, M.I.5
Eldridge, R.6
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3
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11944267671
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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
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Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R: A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992, 29:841-846.
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Evans, D.G.1
Huson, S.M.2
Donnai, D.3
Neary, W.4
Blair, V.5
Teare, D.6
Newton, V.7
Strachan, T.8
Ramsden, R.9
Harris, R.10
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4
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0024521939
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The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2
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Kaiser-Kupfer MI, Freidlin V, Datiles MB, Edwards PA, Sherman JL, Parry D, McCain LM, Eldridge R: The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol 1989, 107:541-544.
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Kaiser-Kupfer, M.I.1
Freidlin, V.2
Datiles, M.B.3
Edwards, P.A.4
Sherman, J.L.5
Parry, D.6
McCain, L.M.7
Eldridge, R.8
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5
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0027294609
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Lens opacities in neurofibromatosis 2: Further significant correlations
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Bouzas EA, Freidlin V, Parry DM, Eldridge R, Kaiser-Kupfer MI: Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 1993, 77:354-357.
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Bouzas, E.A.1
Freidlin, V.2
Parry, D.M.3
Eldridge, R.4
Kaiser-Kupfer, M.I.5
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6
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0022495380
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Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
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Seizinger BR, Martuza RL, Gusella JF: Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986, 322:644-647.
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Seizinger, B.R.1
Martuza, R.L.2
Gusella, J.F.3
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7
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0023265746
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Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis
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Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL: Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science 1987, 236:317-319.
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Seizinger, B.R.1
Rouleau, G.2
Ozelius, L.J.3
Lane, A.H.4
St George-Hyslop, P.5
Huson, S.6
Gusella, J.F.7
Martuza, R.L.8
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8
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0009016044
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Molecular genetic approach to human meningioma: Loss of genes on chromosome 22
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Seizinger BR, De la Monte S, Atkins L, Gusella JF, Martuza RL: Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci USA 1987, 84:5419-5423.
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Seizinger, B.R.1
De La Monte, S.2
Atkins, L.3
Gusella, J.F.4
Martuza, R.L.5
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9
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0015043748
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Mutation and cancer: Statistical study of retinoblastoma
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Knudson Jr., A.G.1
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10
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0023204436
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Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
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Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF: Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987, 329:246-248.
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Rouleau, G.A.1
Wertelecki, W.2
Haines, J.L.3
Hobbs, W.J.4
Trofatter, J.A.5
Seizinger, B.R.6
Martuza, R.L.7
Superneau, D.W.8
Conneally, P.M.9
Gusella, J.F.10
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11
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0027405720
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A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
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[Published erratum appears in Cell 1993, 75:826.]
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Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K et al: A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993, 72:791-800.[Published erratum appears in Cell 1993, 75:826.]
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Cell
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Trofatter, J.A.1
MacCollin, M.M.2
Rutter, J.L.3
Murrell, J.R.4
Duyao, M.P.5
Parry, D.M.6
Eldridge, R.7
Kley, N.8
Menon, A.G.9
Pulaski, K.10
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12
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0027245423
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
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Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B et al.: Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993, 363:515-521.
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Nature
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Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
Sanson, M.4
Zucman, J.5
Marineau, C.6
Hoang-Xuan, K.7
Demczuk, S.8
Desmaze, C.9
Plougastel, B.10
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13
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0028274156
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Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers
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Arakawa H, Hayashi N, Nagase H, Ogawa M, Nakamura Y: Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers. Hum Mol Genet 1994, 3:565-568.
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Hum Mol Genet
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Arakawa, H.1
Hayashi, N.2
Nagase, H.3
Ogawa, M.4
Nakamura, Y.5
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14
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0028201083
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Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
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Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR et al.: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nature Genet 1994, 6:185-192.
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Bianchi, A.B.1
Hara, T.2
Ramesh, V.3
Gao, J.4
Klein-Szanto, A.J.5
Morin, F.6
Menon, A.G.7
Trofatter, J.A.8
Gusella, J.F.9
Seizinger, B.R.10
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15
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0028326668
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Exon scanning for mutation of the NF2 gene in schwannomas
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Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V et al.: Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994, 3:413-419.
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Hum Mol Genet
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Jacoby, L.B.1
MacCollin, M.2
Louis, D.N.3
Mohney, T.4
Rubio, M.P.5
Pulaski, K.6
Trofatter, J.A.7
Kley, N.8
Seizinger, B.9
Ramesh, V.10
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16
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85030195043
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note
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Using exon scanning, these authors demonstrate frequent mutations in the NF2 gene in schwannomas. 30 of these mutations were truncating, including frameshifts, splice defects and nonsense codons while two were missense mutations.
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17
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0028928346
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Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development
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Gutmann DH, Wright DE, Geist RT, Snider WD: Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development Hum Mol Genet 1995, 4:471-478.
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Hum Mol Genet
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Gutmann, D.H.1
Wright, D.E.2
Geist, R.T.3
Snider, W.D.4
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18
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0028265331
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The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts
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Pykett MJ, Murphy M, Harnish PR, George DL: The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. Hum Mol Genet 1994, 3:559-564.
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Hum Mol Genet
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Pykett, M.J.1
Murphy, M.2
Harnish, P.R.3
George, D.L.4
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