-
1
-
-
0028779847
-
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father
-
Lazaro C., Ravella A., Gaona A., et al. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331 (1994) 1403-1407
-
(1994)
N Engl J Med
, vol.331
, pp. 1403-1407
-
-
Lazaro, C.1
Ravella, A.2
Gaona, A.3
-
2
-
-
0025291624
-
Segregation analysis of peripheral neurofibromatosis (NF1)
-
Littler M., and Morton N.E. Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet 27 (1990) 307-310
-
(1990)
J Med Genet
, vol.27
, pp. 307-310
-
-
Littler, M.1
Morton, N.E.2
-
3
-
-
11944267671
-
A genetic study of type 2 neurofibromatosis in the United Kingdom
-
Evans D.G., Huson S.M., 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 29 (1992) 841-846
-
(1992)
I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity J Med Genet
, vol.29
, pp. 841-846
-
-
Evans, D.G.1
Huson, S.M.2
Donnai, D.3
-
4
-
-
0023940296
-
Penetrance of von Recklinghausen neurofibromatosis. a distinction between predecessors and descendants
-
Riccardi V.M., and Lewis R.A. Penetrance of von Recklinghausen neurofibromatosis. a distinction between predecessors and descendants. Am J Hum Genet 42 (1988) 284-289
-
(1988)
Am J Hum Genet
, vol.42
, pp. 284-289
-
-
Riccardi, V.M.1
Lewis, R.A.2
-
5
-
-
16944364739
-
Deletions spanning the neurofibromatosis type 1 gene. implications for genotype-phenotype correlations in neurofibromatosis type 1?
-
Cnossen M.H., van der Est M.N., Breuning M.H., et al. Deletions spanning the neurofibromatosis type 1 gene. implications for genotype-phenotype correlations in neurofibromatosis type 1?. Hum Mutat 9 (1997) 458-464
-
(1997)
Hum Mutat
, vol.9
, pp. 458-464
-
-
Cnossen, M.H.1
van der Est, M.N.2
Breuning, M.H.3
-
6
-
-
0028082464
-
Deletions spanning the neurofibromatosis 1 gene. identification and phenotype of five patients
-
Kayes L.M., Burke W., Riccardi V.M., et al. Deletions spanning the neurofibromatosis 1 gene. identification and phenotype of five patients. Am J Hum Genet 54 (1994) 424-436
-
(1994)
Am J Hum Genet
, vol.54
, pp. 424-436
-
-
Kayes, L.M.1
Burke, W.2
Riccardi, V.M.3
-
7
-
-
19244362433
-
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
-
Ruttledge M.H., Andermann A.A., Phelan C.M., et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59 (1996) 331-342
-
(1996)
Am J Hum Genet
, vol.59
, pp. 331-342
-
-
Ruttledge, M.H.1
Andermann, A.A.2
Phelan, C.M.3
-
8
-
-
3242661620
-
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2. a population-based study
-
Baser M.E., Kuramoto L., Joe H., et al. Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2. a population-based study. Am J Hum Genet 75 (2004) 231-239
-
(2004)
Am J Hum Genet
, vol.75
, pp. 231-239
-
-
Baser, M.E.1
Kuramoto, L.2
Joe, H.3
-
10
-
-
0026521070
-
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients
-
Basu T.N., Gutmann D.H., Fletcher J.A., et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356 (1992) 713-715
-
(1992)
Nature
, vol.356
, pp. 713-715
-
-
Basu, T.N.1
Gutmann, D.H.2
Fletcher, J.A.3
-
11
-
-
0035954358
-
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2
-
Gijtenbeek J.M., Gabreels-Festen A.A., Lammens M., et al. Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. Neurology 56 (2001) 1766-1768
-
(2001)
Neurology
, vol.56
, pp. 1766-1768
-
-
Gijtenbeek, J.M.1
Gabreels-Festen, A.A.2
Lammens, M.3
-
12
-
-
0025297599
-
Type 1 neurofibromatosis gene. identification of a large transcript disrupted in three NF1 patients
-
Wallace M.R., Marchuk D.A., Andersen L.B., et al. Type 1 neurofibromatosis gene. identification of a large transcript disrupted in three NF1 patients. Science 249 (1990) 181-186
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
-
13
-
-
0026528368
-
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis
-
DeClue J.E., Papageorge A.G., Fletcher J.A., et al. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69 (1992) 265-273
-
(1992)
Cell
, vol.69
, pp. 265-273
-
-
DeClue, J.E.1
Papageorge, A.G.2
Fletcher, J.A.3
-
14
-
-
0026505197
-
Somatic mutations in the neurofibromatosis 1 gene in human tumors
-
Li Y., Bollag G., Clark R., et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69 (1992) 275-281
-
(1992)
Cell
, vol.69
, pp. 275-281
-
-
Li, Y.1
Bollag, G.2
Clark, R.3
-
16
-
-
0025369709
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
-
Viskochil D., Buchberg A.M., Xu G., et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62 (1990) 187-192
-
(1990)
Cell
, vol.62
, pp. 187-192
-
-
Viskochil, D.1
Buchberg, A.M.2
Xu, G.3
-
17
-
-
0025091465
-
The neurofibromatosis type 1 gene encodes a protein related to GAP
-
Xu G.F., O'Connell P., Viskochil D., et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62 (1990) 599-608
-
(1990)
Cell
, vol.62
, pp. 599-608
-
-
Xu, G.F.1
O'Connell, P.2
Viskochil, D.3
-
18
-
-
0030024492
-
Molecular genetics of neurofibromatosis type 1 (NF1)
-
Shen M.H., Harper P.S., and Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33 (1996) 2-17
-
(1996)
J Med Genet
, vol.33
, pp. 2-17
-
-
Shen, M.H.1
Harper, P.S.2
Upadhyaya, M.3
-
19
-
-
0025978395
-
cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene
-
Cawthon R.M., Andersen L.B., Buchberg A.M., et al. cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics 9 (1991) 446-460
-
(1991)
Genomics
, vol.9
, pp. 446-460
-
-
Cawthon, R.M.1
Andersen, L.B.2
Buchberg, A.M.3
-
20
-
-
0025196273
-
Identification and characterization of transcripts from the neurofibromatosis 1 region. the sequence and genomic structure of EVI2 and mapping of other transcripts
-
Cawthon R.M., O'Connell P., Buchberg A.M., et al. Identification and characterization of transcripts from the neurofibromatosis 1 region. the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 7 (1990) 555-565
-
(1990)
Genomics
, vol.7
, pp. 555-565
-
-
Cawthon, R.M.1
O'Connell, P.2
Buchberg, A.M.3
-
21
-
-
0026011110
-
The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene
-
Viskochil D., Cawthon R., O'Connell P., et al. The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Mol Cell Biol 11 (1991) 906-912
-
(1991)
Mol Cell Biol
, vol.11
, pp. 906-912
-
-
Viskochil, D.1
Cawthon, R.2
O'Connell, P.3
-
22
-
-
0026093769
-
Identification of the neurofibromatosis type 1 gene product
-
Gutmann D.H., Wood D.L., and Collins F.S. Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88 (1991) 9658-9662
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 9658-9662
-
-
Gutmann, D.H.1
Wood, D.L.2
Collins, F.S.3
-
23
-
-
0025790437
-
Identification and characterization of the neurofibromatosis type 1 protein product
-
DeClue J.E., Cohen B.D., and Lowy D.R. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci U S A 88 (1991) 9914-9918
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 9914-9918
-
-
DeClue, J.E.1
Cohen, B.D.2
Lowy, D.R.3
-
24
-
-
0027310225
-
Characterization of full-length neurofibromin. tubulin inhibits Ras GAP activity
-
Bollag G., McCormick F., and Clark R. Characterization of full-length neurofibromin. tubulin inhibits Ras GAP activity. EMBO J 12 (1993) 1923-1927
-
(1993)
EMBO J
, vol.12
, pp. 1923-1927
-
-
Bollag, G.1
McCormick, F.2
Clark, R.3
-
25
-
-
0027533785
-
The neurofibromatosis type 1 gene and its protein product, neurofibromin
-
Gutmann D.H., and Collins F.S. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 10 (1993) 335-343
-
(1993)
Neuron
, vol.10
, pp. 335-343
-
-
Gutmann, D.H.1
Collins, F.S.2
-
26
-
-
0026603826
-
The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes
-
Daston M.M., Scrable H., Nordlund M., et al. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8 (1992) 415-428
-
(1992)
Neuron
, vol.8
, pp. 415-428
-
-
Daston, M.M.1
Scrable, H.2
Nordlund, M.3
-
27
-
-
0027320496
-
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules
-
Gregory P.E., Gutmann D.H., Mitchell A., et al. Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somat Cell Mol Genet 19 (1993) 265-274
-
(1993)
Somat Cell Mol Genet
, vol.19
, pp. 265-274
-
-
Gregory, P.E.1
Gutmann, D.H.2
Mitchell, A.3
-
28
-
-
0026333880
-
Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain
-
Suzuki Y., Suzuki H., Kayama T., et al. Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem Biophys Res Commun 181 (1991) 955-961
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 955-961
-
-
Suzuki, Y.1
Suzuki, H.2
Kayama, T.3
-
29
-
-
0025909212
-
Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation
-
Nishi T., Lee P.S., Oka K., et al. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6 (1991) 1555-1559
-
(1991)
Oncogene
, vol.6
, pp. 1555-1559
-
-
Nishi, T.1
Lee, P.S.2
Oka, K.3
-
30
-
-
0028326750
-
Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin
-
Malhotra R., and Ratner N. Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin. J Invest Dermatol 102 (1994) 812-818
-
(1994)
J Invest Dermatol
, vol.102
, pp. 812-818
-
-
Malhotra, R.1
Ratner, N.2
-
32
-
-
0033605484
-
Epidemiology of neurofibromatosis type 1
-
Friedman J.M. Epidemiology of neurofibromatosis type 1. Am J Med Genet 89 (1999) 1-6
-
(1999)
Am J Med Genet
, vol.89
, pp. 1-6
-
-
Friedman, J.M.1
-
33
-
-
0027202164
-
Molecular biology of the neurofibromatoses
-
Riccardi V.M. Molecular biology of the neurofibromatoses. Semin Dermatol 12 (1993) 266-273
-
(1993)
Semin Dermatol
, vol.12
, pp. 266-273
-
-
Riccardi, V.M.1
-
34
-
-
0027379865
-
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1). evidence for modifying genes
-
Easton D.F., Ponder M.A., Huson S.M., et al. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1). evidence for modifying genes. Am J Hum Genet 53 (1993) 305-313
-
(1993)
Am J Hum Genet
, vol.53
, pp. 305-313
-
-
Easton, D.F.1
Ponder, M.A.2
Huson, S.M.3
-
35
-
-
0029002475
-
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
-
Heim R.A., Kam-Morgan L.N., Binnie C.G., et al. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4 (1995) 975-981
-
(1995)
Hum Mol Genet
, vol.4
, pp. 975-981
-
-
Heim, R.A.1
Kam-Morgan, L.N.2
Binnie, C.G.3
-
36
-
-
0031657522
-
Neurofibromatosis type 1 (NF1). a protein truncation assay yielding identification of mutations in 73% of patients
-
Park V.M., and Pivnick E.K. Neurofibromatosis type 1 (NF1). a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet 35 (1998) 813-820
-
(1998)
J Med Genet
, vol.35
, pp. 813-820
-
-
Park, V.M.1
Pivnick, E.K.2
-
37
-
-
0034081412
-
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
-
Messiaen L.M., Callens T., Mortier G., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15 (2000) 541-555
-
(2000)
Hum Mutat
, vol.15
, pp. 541-555
-
-
Messiaen, L.M.1
Callens, T.2
Mortier, G.3
-
38
-
-
2342570393
-
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients
-
Frahm S., Mautner V.F., Brems H., et al. Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis 16 (2004) 85-91
-
(2004)
Neurobiol Dis
, vol.16
, pp. 85-91
-
-
Frahm, S.1
Mautner, V.F.2
Brems, H.3
-
39
-
-
0032127483
-
Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1
-
Kai S., Sumita H., Fujioka K., et al. Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1. Int J Hematol 68 (1998) 53-60
-
(1998)
Int J Hematol
, vol.68
, pp. 53-60
-
-
Kai, S.1
Sumita, H.2
Fujioka, K.3
-
40
-
-
0028213434
-
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I
-
Gutmann D.H., Cole J.L., Stone W.J., et al. Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes Chromosomes Cancer 10 (1994) 55-58
-
(1994)
Genes Chromosomes Cancer
, vol.10
, pp. 55-58
-
-
Gutmann, D.H.1
Cole, J.L.2
Stone, W.J.3
-
41
-
-
0033864837
-
Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas
-
Gutmann D.H., Donahoe J., Brown T., et al. Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Neuropathol Appl Neurobiol 26 (2000) 361-367
-
(2000)
Neuropathol Appl Neurobiol
, vol.26
, pp. 361-367
-
-
Gutmann, D.H.1
Donahoe, J.2
Brown, T.3
-
42
-
-
0345305695
-
Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1
-
Gutmann D.H., James C.D., Poyhonen M., et al. Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology 61 (2003) 1397-1400
-
(2003)
Neurology
, vol.61
, pp. 1397-1400
-
-
Gutmann, D.H.1
James, C.D.2
Poyhonen, M.3
-
43
-
-
0029160585
-
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene
-
Colman S.D., Williams C.A., and Wallace M.R. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 11 (1995) 90-92
-
(1995)
Nat Genet
, vol.11
, pp. 90-92
-
-
Colman, S.D.1
Williams, C.A.2
Wallace, M.R.3
-
44
-
-
0029745770
-
Identification of NF1 mutations in both alleles of a dermal neurofibroma
-
Sawada S., Florell S., Purandare S.M., et al. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 14 (1996) 110-112
-
(1996)
Nat Genet
, vol.14
, pp. 110-112
-
-
Sawada, S.1
Florell, S.2
Purandare, S.M.3
-
45
-
-
0030850675
-
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
-
Serra E., Puig S., Otero D., et al. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 61 (1997) 512-519
-
(1997)
Am J Hum Genet
, vol.61
, pp. 512-519
-
-
Serra, E.1
Puig, S.2
Otero, D.3
-
46
-
-
0032914916
-
Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma
-
Kluwe L., Friedrich R., and Mautner V.F. Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. Genes Chromosomes Cancer 24 (1999) 283-285
-
(1999)
Genes Chromosomes Cancer
, vol.24
, pp. 283-285
-
-
Kluwe, L.1
Friedrich, R.2
Mautner, V.F.3
-
47
-
-
10044290805
-
A case of neurofibromatosis and breast cancer. loss of heterozygosity of NF1 in breast cancer
-
Guran S., and Safali M. A case of neurofibromatosis and breast cancer. loss of heterozygosity of NF1 in breast cancer. Cancer Genet Cytogenet 156 (2005) 86-88
-
(2005)
Cancer Genet Cytogenet
, vol.156
, pp. 86-88
-
-
Guran, S.1
Safali, M.2
-
48
-
-
22644446003
-
NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer
-
Cacev T., Radosevic S., Spaventi R., et al. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer. Gut 54 (2005) 1129-1135
-
(2005)
Gut
, vol.54
, pp. 1129-1135
-
-
Cacev, T.1
Radosevic, S.2
Spaventi, R.3
-
49
-
-
0342762036
-
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma
-
Martinsson T., Sjoberg R.M., Hedborg F., et al. Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. Cancer Genet Cytogenet 95 (1997) 183-189
-
(1997)
Cancer Genet Cytogenet
, vol.95
, pp. 183-189
-
-
Martinsson, T.1
Sjoberg, R.M.2
Hedborg, F.3
-
50
-
-
0034598363
-
Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo
-
Ingram D.A., Yang F.C., Travers J.B., et al. Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J Exp Med 191 (2000) 181-188
-
(2000)
J Exp Med
, vol.191
, pp. 181-188
-
-
Ingram, D.A.1
Yang, F.C.2
Travers, J.B.3
-
51
-
-
0033573694
-
Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor
-
Rizvi T.A., Akunuru S., de Court, et al. Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor. Brain Res 816 (1999) 111-123
-
(1999)
Brain Res
, vol.816
, pp. 111-123
-
-
Rizvi, T.A.1
Akunuru, S.2
de Court3
-
52
-
-
0029075611
-
Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains
-
Nordlund M.L., Rizvi T.A., Brannan C.I., et al. Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains. J Neuropathol Exp Neurol 54 (1995) 588-600
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 588-600
-
-
Nordlund, M.L.1
Rizvi, T.A.2
Brannan, C.I.3
-
53
-
-
0033527061
-
Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation
-
Gutmann D.H., Loehr A., Zhang Y., et al. Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation. Oncogene 18 (1999) 4450-4459
-
(1999)
Oncogene
, vol.18
, pp. 4450-4459
-
-
Gutmann, D.H.1
Loehr, A.2
Zhang, Y.3
-
54
-
-
0035075794
-
Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes
-
Bajenaru M.L., Donahoe J., Corral T., et al. Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes. Glia 33 (2001) 314-323
-
(2001)
Glia
, vol.33
, pp. 314-323
-
-
Bajenaru, M.L.1
Donahoe, J.2
Corral, T.3
-
55
-
-
0035894746
-
Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes
-
Gutmann D.H., Wu Y.L., Hedrick N.M., et al. Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. Hum Mol Genet 10 (2001) 3009-3016
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3009-3016
-
-
Gutmann, D.H.1
Wu, Y.L.2
Hedrick, N.M.3
-
56
-
-
0024376173
-
ras oncogenes in human cancer. a review
-
Bos J.L. ras oncogenes in human cancer. a review. Cancer Res 49 (1989) 4682-4689
-
(1989)
Cancer Res
, vol.49
, pp. 4682-4689
-
-
Bos, J.L.1
-
57
-
-
0025729180
-
Differential regulation of rasGAP and neurofibromatosis gene product activities
-
Bollag G., and McCormick F. Differential regulation of rasGAP and neurofibromatosis gene product activities. Nature 351 (1991) 576-579
-
(1991)
Nature
, vol.351
, pp. 576-579
-
-
Bollag, G.1
McCormick, F.2
-
58
-
-
9044251606
-
Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells
-
Bollag G., Clapp D.W., Shih S., et al. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 12 (1996) 144-148
-
(1996)
Nat Genet
, vol.12
, pp. 144-148
-
-
Bollag, G.1
Clapp, D.W.2
Shih, S.3
-
59
-
-
0029935608
-
Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report
-
Feldkamp M.M., Lau N., Provias J.P., et al. Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report. J Neurosurg 84 (1996) 867-873
-
(1996)
J Neurosurg
, vol.84
, pp. 867-873
-
-
Feldkamp, M.M.1
Lau, N.2
Provias, J.P.3
-
60
-
-
0030996903
-
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A
-
The I., Hannigan G.E., Cowley G.S., et al. Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science 276 (1997) 791-794
-
(1997)
Science
, vol.276
, pp. 791-794
-
-
The, I.1
Hannigan, G.E.2
Cowley, G.S.3
-
61
-
-
0027211048
-
Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP
-
Johnson M.R., Look A.T., DeClue J.E., et al. Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP. Ras. Proc Natl Acad Sci U S A 90 (1993) 5539-5543
-
(1993)
Ras. Proc Natl Acad Sci U S A
, vol.90
, pp. 5539-5543
-
-
Johnson, M.R.1
Look, A.T.2
DeClue, J.E.3
-
62
-
-
0020395760
-
Cytological and cytogenetical studies on human meningioma
-
Zang K.D. Cytological and cytogenetical studies on human meningioma. Cancer Genet Cytogenet 6 (1982) 249-274
-
(1982)
Cancer Genet Cytogenet
, vol.6
, pp. 249-274
-
-
Zang, K.D.1
-
63
-
-
0023204436
-
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
-
Rouleau G.A., Wertelecki W., Haines J.L., et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329 (1987) 246-248
-
(1987)
Nature
, vol.329
, pp. 246-248
-
-
Rouleau, G.A.1
Wertelecki, W.2
Haines, J.L.3
-
64
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
-
Rouleau G.A., Merel P., Lutchman M., et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363 (1993) 515-521
-
(1993)
Nature
, vol.363
, pp. 515-521
-
-
Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
-
65
-
-
0027405720
-
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
-
Trofatter J.A., MacCollin M.M., Rutter J.L., et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72 (1993) 791-800
-
(1993)
Cell
, vol.72
, pp. 791-800
-
-
Trofatter, J.A.1
MacCollin, M.M.2
Rutter, J.L.3
-
66
-
-
0034022193
-
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors
-
Kluwe L., Friedrich R.E., Hagel C., et al. Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. J Invest Dermatol 114 (2000) 1017-1021
-
(2000)
J Invest Dermatol
, vol.114
, pp. 1017-1021
-
-
Kluwe, L.1
Friedrich, R.E.2
Hagel, C.3
-
67
-
-
0034656174
-
Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas
-
Hung G., Faudoa R., Baser M.E., et al. Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas. Cancer Genet Cytogenet 118 (2000) 167-168
-
(2000)
Cancer Genet Cytogenet
, vol.118
, pp. 167-168
-
-
Hung, G.1
Faudoa, R.2
Baser, M.E.3
-
68
-
-
0034120650
-
Allelic losses in neurofibromatosis 2-associated meningiomas
-
Lamszus K., Vahldiek F., Mautner V.F., et al. Allelic losses in neurofibromatosis 2-associated meningiomas. J Neuropathol Exp Neurol 59 (2000) 504-512
-
(2000)
J Neuropathol Exp Neurol
, vol.59
, pp. 504-512
-
-
Lamszus, K.1
Vahldiek, F.2
Mautner, V.F.3
-
69
-
-
13444282071
-
Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs). a study on 50 cases
-
Lasota J., Wozniak A., Kopczynski J., et al. Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs). a study on 50 cases. Lab Invest 85 (2005) 237-247
-
(2005)
Lab Invest
, vol.85
, pp. 237-247
-
-
Lasota, J.1
Wozniak, A.2
Kopczynski, J.3
-
70
-
-
0033431053
-
Tight association of loss of merlin expression with loss of heterozygosity at chromosome 22q in sporadic meningiomas
-
Ueki K., Wen-Bin C., Narita Y., et al. Tight association of loss of merlin expression with loss of heterozygosity at chromosome 22q in sporadic meningiomas. Cancer Res 59 (1999) 5995-5998
-
(1999)
Cancer Res
, vol.59
, pp. 5995-5998
-
-
Ueki, K.1
Wen-Bin, C.2
Narita, Y.3
-
71
-
-
0036726037
-
Concurrent LOH at multiple loci in human malignant mesothelioma with preferential loss of NF2 gene region
-
Pylkkanen L., Sainio M., Ollikainen T., et al. Concurrent LOH at multiple loci in human malignant mesothelioma with preferential loss of NF2 gene region. Oncol Rep 9 (2002) 955-959
-
(2002)
Oncol Rep
, vol.9
, pp. 955-959
-
-
Pylkkanen, L.1
Sainio, M.2
Ollikainen, T.3
-
72
-
-
0035869674
-
Molecular genetic alterations on chromosomes 11 and 22 in ependymomas
-
Lamszus K., Lachenmayer L., Heinemann U., et al. Molecular genetic alterations on chromosomes 11 and 22 in ependymomas. Int J Cancer 91 (2001) 803-808
-
(2001)
Int J Cancer
, vol.91
, pp. 803-808
-
-
Lamszus, K.1
Lachenmayer, L.2
Heinemann, U.3
-
73
-
-
19944434141
-
Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas
-
Lomas J., Bello M.J., Arjona D., et al. Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas. Genes Chromosomes Cancer 42 (2005) 314-319
-
(2005)
Genes Chromosomes Cancer
, vol.42
, pp. 314-319
-
-
Lomas, J.1
Bello, M.J.2
Arjona, D.3
-
74
-
-
6644226164
-
Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma
-
Kino T., Takeshima H., Nakao M., et al. Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma. Genes Cells 6 (2001) 441-454
-
(2001)
Genes Cells
, vol.6
, pp. 441-454
-
-
Kino, T.1
Takeshima, H.2
Nakao, M.3
-
75
-
-
0345491976
-
CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas
-
Gonzalez-Gomez P., Bello M.J., Alonso M.E., et al. CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas. Clin Cancer Res 9 (2003) 5601-5606
-
(2003)
Clin Cancer Res
, vol.9
, pp. 5601-5606
-
-
Gonzalez-Gomez, P.1
Bello, M.J.2
Alonso, M.E.3
-
76
-
-
0027937181
-
Neurofibromatosis 2 (NF2). clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
-
Parry D.M., Eldridge R., Kaiser-Kupfer M.I., et al. Neurofibromatosis 2 (NF2). clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52 (1994) 450-461
-
(1994)
Am J Med Genet
, vol.52
, pp. 450-461
-
-
Parry, D.M.1
Eldridge, R.2
Kaiser-Kupfer, M.I.3
-
77
-
-
18644371170
-
Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
-
Zhao Y., Kumar R.A., Baser M.E., et al. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol 23 (2002) 245-259
-
(2002)
Genet Epidemiol
, vol.23
, pp. 245-259
-
-
Zhao, Y.1
Kumar, R.A.2
Baser, M.E.3
-
78
-
-
0029795562
-
Phenotypic variability in monozygotic twins with neurofibromatosis 2
-
Baser M.E., Ragge N.K., Riccardi V.M., et al. Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet 64 (1996) 563-567
-
(1996)
Am J Med Genet
, vol.64
, pp. 563-567
-
-
Baser, M.E.1
Ragge, N.K.2
Riccardi, V.M.3
-
79
-
-
0029774092
-
Germ-line mutations in the neurofibromatosis 2 gene. correlations with disease severity and retinal abnormalities
-
Parry D.M., MacCollin M.M., Kaiser-Kupfer M.I., et al. Germ-line mutations in the neurofibromatosis 2 gene. correlations with disease severity and retinal abnormalities. Am J Hum Genet 59 (1996) 529-539
-
(1996)
Am J Hum Genet
, vol.59
, pp. 529-539
-
-
Parry, D.M.1
MacCollin, M.M.2
Kaiser-Kupfer, M.I.3
-
80
-
-
22244445505
-
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
-
Baser M.E., Kuramoto L., Woods R., et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 42 (2005) 540-546
-
(2005)
J Med Genet
, vol.42
, pp. 540-546
-
-
Baser, M.E.1
Kuramoto, L.2
Woods, R.3
-
81
-
-
0028142499
-
Mutational analysis of patients with neurofibromatosis 2
-
Maccollin M., Ramesh V., Jacoby L.B., et al. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55 (1994) 314-320
-
(1994)
Am J Hum Genet
, vol.55
, pp. 314-320
-
-
Maccollin, M.1
Ramesh, V.2
Jacoby, L.B.3
-
82
-
-
0031081475
-
ERM proteins. head-to-tail regulation of actin-plasma membrane interaction
-
Tsukita S., Yonemura S., and Tsukita S. ERM proteins. head-to-tail regulation of actin-plasma membrane interaction. Trends Biochem Sci 22 (1997) 53-58
-
(1997)
Trends Biochem Sci
, vol.22
, pp. 53-58
-
-
Tsukita, S.1
Yonemura, S.2
Tsukita, S.3
-
83
-
-
0034724536
-
Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain
-
Pearson M.A., Reczek D., Bretscher A., et al. Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain. Cell 101 (2000) 259-270
-
(2000)
Cell
, vol.101
, pp. 259-270
-
-
Pearson, M.A.1
Reczek, D.2
Bretscher, A.3
-
84
-
-
0036128427
-
The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product
-
Kang B.S., Cooper D.R., Devedjiev Y., et al. The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product. Acta Crystallogr D Biol Crystallogr 58 (2002) 381-391
-
(2002)
Acta Crystallogr D Biol Crystallogr
, vol.58
, pp. 381-391
-
-
Kang, B.S.1
Cooper, D.R.2
Devedjiev, Y.3
-
86
-
-
0030775695
-
Interdomain binding mediates tumor growth suppression by the NF2 gene product
-
Sherman L., Xu H.M., Geist R.T., et al. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15 (1997) 2505-2509
-
(1997)
Oncogene
, vol.15
, pp. 2505-2509
-
-
Sherman, L.1
Xu, H.M.2
Geist, R.T.3
-
87
-
-
0033485979
-
Neurofibromatosis 2 tumor suppressor protein, merlin, forms two functionally important intramolecular associations
-
Gutmann D.H., Haipek C.A., and Hoang L.K. Neurofibromatosis 2 tumor suppressor protein, merlin, forms two functionally important intramolecular associations. J Neurosci Res 58 (1999) 706-716
-
(1999)
J Neurosci Res
, vol.58
, pp. 706-716
-
-
Gutmann, D.H.1
Haipek, C.A.2
Hoang, L.K.3
-
88
-
-
0030775695
-
Interdomain binding mediates tumor growth suppression by the NF2 gene product
-
Sherman L., Xu H.M., Geist R.T., et al. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15 (1997) 2505-2509
-
(1997)
Oncogene
, vol.15
, pp. 2505-2509
-
-
Sherman, L.1
Xu, H.M.2
Geist, R.T.3
-
89
-
-
0031887651
-
Defects in neurofibromatosis 2 protein function can arise at multiple levels
-
Gutmann D.H., Geist R.T., Xu H., et al. Defects in neurofibromatosis 2 protein function can arise at multiple levels. Hum Mol Genet 7 (1998) 335-345
-
(1998)
Hum Mol Genet
, vol.7
, pp. 335-345
-
-
Gutmann, D.H.1
Geist, R.T.2
Xu, H.3
-
90
-
-
0030924657
-
The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation
-
McClatchey A.I., Saotome I., Ramesh V., et al. The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev 11 (1997) 1253-1265
-
(1997)
Genes Dev
, vol.11
, pp. 1253-1265
-
-
McClatchey, A.I.1
Saotome, I.2
Ramesh, V.3
-
91
-
-
0032522603
-
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors
-
McClatchey A.I., Saotome I., Mercer K., et al. Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev 12 (1998) 1121-1133
-
(1998)
Genes Dev
, vol.12
, pp. 1121-1133
-
-
McClatchey, A.I.1
Saotome, I.2
Mercer, K.3
-
92
-
-
0033561026
-
Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein
-
Giovannini M., Robanus-Maandag E., Niwa-Kawakita M., et al. Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein. Genes Dev 13 (1999) 978-986
-
(1999)
Genes Dev
, vol.13
, pp. 978-986
-
-
Giovannini, M.1
Robanus-Maandag, E.2
Niwa-Kawakita, M.3
-
93
-
-
0036571383
-
Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse
-
Kalamarides M., Niwa-Kawakita M., Leblois H., et al. Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse. Genes Dev 16 (2002) 1060-1065
-
(2002)
Genes Dev
, vol.16
, pp. 1060-1065
-
-
Kalamarides, M.1
Niwa-Kawakita, M.2
Leblois, H.3
-
94
-
-
0036154164
-
Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis
-
Schulze K.M., Hanemann C.O., Muller H.W., et al. Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Hum Mol Genet 11 (2002) 69-76
-
(2002)
Hum Mol Genet
, vol.11
, pp. 69-76
-
-
Schulze, K.M.1
Hanemann, C.O.2
Muller, H.W.3
-
95
-
-
3042626692
-
Overexpression of the NF2 gene inhibits schwannoma cell proliferation through promoting PDGFR degradation
-
Fraenzer J.T., Pan H., Minimo Jr. L., et al. Overexpression of the NF2 gene inhibits schwannoma cell proliferation through promoting PDGFR degradation. Int J Oncol 23 (2003) 1493-1500
-
(2003)
Int J Oncol
, vol.23
, pp. 1493-1500
-
-
Fraenzer, J.T.1
Pan, H.2
Minimo Jr., L.3
-
96
-
-
0035871299
-
The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44
-
Morrison H., Sherman L.S., Legg J., et al. The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44. Genes Dev 15 (2001) 968-980
-
(2001)
Genes Dev
, vol.15
, pp. 968-980
-
-
Morrison, H.1
Sherman, L.S.2
Legg, J.3
-
97
-
-
0032747316
-
Inhibition of NF2-negative and NF2-positive primary human meningioma cell proliferation by overexpression of merlin due to vector-mediated gene transfer
-
Ikeda K., Saeki Y., Gonzalez-Agosti C., et al. Inhibition of NF2-negative and NF2-positive primary human meningioma cell proliferation by overexpression of merlin due to vector-mediated gene transfer. J Neurosurg 91 (1999) 85-92
-
(1999)
J Neurosurg
, vol.91
, pp. 85-92
-
-
Ikeda, K.1
Saeki, Y.2
Gonzalez-Agosti, C.3
-
98
-
-
0028168361
-
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin)
-
Tikoo A., Varga M., Ramesh V., et al. An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem 269 (1994) 23387-23390
-
(1994)
J Biol Chem
, vol.269
, pp. 23387-23390
-
-
Tikoo, A.1
Varga, M.2
Ramesh, V.3
-
100
-
-
0242298576
-
Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1
-
Kissil J.L., Wilker E.W., Johnson K.C., et al. Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1. Mol Cell 12 (2003) 841-849
-
(2003)
Mol Cell
, vol.12
, pp. 841-849
-
-
Kissil, J.L.1
Wilker, E.W.2
Johnson, K.C.3
-
101
-
-
11144229268
-
Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L
-
Rong R., Tang X., Gutmann D.H., et al. Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L. Proc Natl Acad Sci U S A 101 (2004) 18200-18205
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 18200-18205
-
-
Rong, R.1
Tang, X.2
Gutmann, D.H.3
-
102
-
-
24044521938
-
The merlin tumor suppressor interacts with Ral guanine nucleotide dissociation stimulator and inhibits its activity
-
Ryu C.H., Kim S.W., Lee K.H., et al. The merlin tumor suppressor interacts with Ral guanine nucleotide dissociation stimulator and inhibits its activity. Oncogene 24 (2005) 5355-5364
-
(2005)
Oncogene
, vol.24
, pp. 5355-5364
-
-
Ryu, C.H.1
Kim, S.W.2
Lee, K.H.3
|