-
1
-
-
11944267671
-
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
-
Evans DGR, Huson SM, Donnai D, et al. 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.
-
(1992)
J Med Genet
, vol.29
, pp. 841-846
-
-
Evans, D.G.R.1
Huson, S.M.2
Donnai, D.3
-
2
-
-
0029981434
-
The neuroimaging and clinical spectrum of neurofibromatosis 2
-
Mautner VF, Lindenau M, Baser M, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 1996;38:880-886.
-
(1996)
Neurosurgery
, vol.38
, pp. 880-886
-
-
Mautner, V.F.1
Lindenau, M.2
Baser, M.3
-
3
-
-
0028837397
-
Screening for germline mutations in the NF2 gene
-
Merel P, Hoang-Xuan K, Sanson M, et al. Screening for germline mutations in the NF2 gene. Genes Chrom Cancer 1995; 12:117-127.
-
(1995)
Genes Chrom Cancer
, vol.12
, pp. 117-127
-
-
Merel, P.1
Hoang-Xuan, K.2
Sanson, M.3
-
4
-
-
0028226739
-
Germline mutations in the neurofibromatosis type 2 tumor suppressor gene
-
Bourn D, Carter SA, Mason S, Evans DGR, Strachan T. Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum Mol Genet 1994;3:813-816.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 813-816
-
-
Bourn, D.1
Carter, S.A.2
Mason, S.3
Evans, D.G.R.4
Strachan, T.5
-
5
-
-
0028343217
-
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
-
Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst S-M. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 1994;3:885-891.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 885-891
-
-
Sainz, J.1
Huynh, D.P.2
Figueroa, K.3
Ragge, N.K.4
Baser, M.E.5
Pulst, S.-M.6
-
6
-
-
0028326668
-
Exon scanning for mutation of the NF2 gene in schwannomas
-
Jacoby LB, MacCollin M, Louis DM, et al. Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994;3:413-419.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 413-419
-
-
Jacoby, L.B.1
MacCollin, M.2
Louis, D.M.3
-
7
-
-
0027359586
-
DNA diagnosis of neurofibromatosis 2
-
MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J. DNA diagnosis of neurofibromatosis 2. JAMA 1993;270:2316-2330.
-
(1993)
JAMA
, vol.270
, pp. 2316-2330
-
-
MacCollin, M.1
Mohney, T.2
Trofatter, J.3
Wertelecki, W.4
Ramesh, V.5
Gusella, J.6
-
8
-
-
0029018288
-
Diagnostic issues in a family with late onset type 2 neurofibromatosis
-
Evans DGR, Bourn D, Wallace A, Ramaden RT, Mitchell JD, Strachan T. Diagnostic issues in a family with late onset type 2 neurofibromatosis. J Med Genet 1995;32:470-474.
-
(1995)
J Med Genet
, vol.32
, pp. 470-474
-
-
Evans, D.G.R.1
Bourn, D.2
Wallace, A.3
Ramaden, R.T.4
Mitchell, J.D.5
Strachan, T.6
-
9
-
-
0030025114
-
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2
-
Kluwe L, Mautner V-F. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 1996;97:224-227.
-
(1996)
Hum Genet
, vol.97
, pp. 224-227
-
-
Kluwe, L.1
Mautner, V.-F.2
-
10
-
-
0028054663
-
Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma
-
Irving RM, Moffat DA, Hardy DG, Barton DE, Xuereb JH, Maher ER. Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 1994;3:347-350.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 347-350
-
-
Irving, R.M.1
Moffat, D.A.2
Hardy, D.G.3
Barton, D.E.4
Xuereb, J.H.5
Maher, E.R.6
-
11
-
-
0028201083
-
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
-
Bianchi AB, Hara T, Ramesh V, et al. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet 1994;6:185-192.
-
(1994)
Nat Genet
, vol.6
, pp. 185-192
-
-
Bianchi, A.B.1
Hara, T.2
Ramesh, V.3
-
12
-
-
0027963492
-
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
-
Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T. A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994;55:69-73.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 69-73
-
-
Bourn, D.1
Carter, S.A.2
Evans, D.G.R.3
Goodship, J.4
Coakham, H.5
Strachan, T.6
-
13
-
-
0028945983
-
A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2
-
Kluwe L, Pulst SM, Köppen J, Mautner V-F. A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 1995;4:443-446.
-
(1995)
Hum Genet
, vol.4
, pp. 443-446
-
-
Kluwe, L.1
Pulst, S.M.2
Köppen, J.3
Mautner, V.-F.4
-
14
-
-
85035175026
-
Phenotypic variability in monozygotic twins with neurofibromatosis 2
-
In press
-
Baser ME, Ragge NK, Riccardi VM, Ganz B, Janus T, Pulst S-M. Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet (In press).
-
Am J Med Genet
-
-
Baser, M.E.1
Ragge, N.K.2
Riccardi, V.M.3
Ganz, B.4
Janus, T.5
Pulst, S.-M.6
|