-
1
-
-
0029880030
-
Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: The site of the recurrent substitution mutation in exon 31
-
Andrews JD, Mancini DN, Singh SM, Rodenheiser DI (1996) Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31. Hum Mol Genet 5: 503-507
-
(1996)
Hum Mol Genet
, vol.5
, pp. 503-507
-
-
Andrews, J.D.1
Mancini, D.N.2
Singh, S.M.3
Rodenheiser, D.I.4
-
2
-
-
0025201012
-
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
-
Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63: 851-859
-
(1990)
Cell
, vol.63
, pp. 851-859
-
-
Ballester, R.1
Marchuk, D.2
Boguski, M.3
Saulino, A.4
Letcher, R.5
Wigler, M.6
Collins, F.7
-
3
-
-
0026521070
-
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients
-
Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356: 713-715
-
(1992)
Nature
, vol.356
, pp. 713-715
-
-
Basu, T.N.1
Gutmann, D.H.2
Fletcher, J.A.3
Glover, T.W.4
Collins, F.S.5
Downward, J.6
-
4
-
-
0025152970
-
Sequence homology shared by neurofibromatosis type 1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway
-
Buchberg AM, Cleveland LS, Jenkins MA, Copeland NG (1990) Sequence homology shared by neurofibromatosis type 1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 347: 291-294
-
(1990)
Nature
, vol.347
, pp. 291-294
-
-
Buchberg, A.M.1
Cleveland, L.S.2
Jenkins, M.A.3
Copeland, N.G.4
-
6
-
-
0026603826
-
The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells and oligodendrocytes
-
Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells and oligodendrocytes. Neurone 8: 415-419
-
(1992)
Neurone
, vol.8
, pp. 415-419
-
-
Daston, M.M.1
Scrable, H.2
Nordlund, M.3
Sturbaum, A.K.4
Nissen, L.M.5
Ratner, N.6
-
7
-
-
0027379865
-
An analysis of variation in expression of neurofibromatosis type 1 (NF1): Evidence for modifying genes
-
Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993) An analysis of variation in expression of neurofibromatosis type 1 (NF1): evidence for modifying genes. Am J Hum Genet 53: 305-313
-
(1993)
Am J Hum Genet
, vol.53
, pp. 305-313
-
-
Easton, D.F.1
Ponder, M.A.2
Huson, S.M.3
Ponder, B.A.J.4
-
8
-
-
0000498063
-
Von Recklinghausen neurofibromatosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Gutmann DH, Collins FS (1995) Von Recklinghausen neurofibromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 677-696
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 677-696
-
-
Gutmann, D.H.1
Collins, F.S.2
-
9
-
-
0027503594
-
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site directed mutagenesis
-
Gutmann DH, Boguski M, Marchuk D, Wigler M, Collins FS, Ballester R (1993) Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site directed mutagenesis. Oncogene 8: 761-769
-
(1993)
Oncogene
, vol.8
, pp. 761-769
-
-
Gutmann, D.H.1
Boguski, M.2
Marchuk, D.3
Wigler, M.4
Collins, F.S.5
Ballester, R.6
-
10
-
-
0029002475
-
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
-
Heim RA, Kam-Morgan LNW, Birrie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4: 975-981
-
(1995)
Hum Mol Genet
, vol.4
, pp. 975-981
-
-
Heim, R.A.1
Kam-Morgan, L.N.W.2
Birrie, C.G.3
Corns, D.D.4
Cayouette, M.C.5
Farber, R.A.6
Aylsworth, A.S.7
Silverman, L.M.8
Luce, M.C.9
-
13
-
-
0027468594
-
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
-
Legius E, Marchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3: 122-126
-
(1993)
Nat Genet
, vol.3
, pp. 122-126
-
-
Legius, E.1
Marchuk, D.A.2
Collins, F.S.3
Glover, T.W.4
-
14
-
-
0026505197
-
Somatic mutations in the neurofibromatosis 1 gene in human tumours
-
Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samouritz W, Robertson M, Bradley P, McCormick F, White R, Cawthon R (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumours. Cell 69: 275-281
-
(1992)
Cell
, vol.69
, pp. 275-281
-
-
Li, Y.1
Bollag, G.2
Clark, R.3
Stevens, J.4
Conroy, L.5
Fults, D.6
Ward, K.7
Friedman, E.8
Samouritz, W.9
Robertson, M.10
Bradley, P.11
McCormick, F.12
White, R.13
Cawthon, R.14
-
15
-
-
0028928718
-
Genomic organisation of the neurofibromatosis 1 gene (NF1)
-
Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Shannon N, Robertson M, White R, Viskochil D (1995) Genomic organisation of the neurofibromatosis 1 gene (NF1). Genomics 25: 9-18
-
(1995)
Genomics
, vol.25
, pp. 9-18
-
-
Li, Y.1
O'Connell, P.2
Breidenbach, H.H.3
Cawthon, R.4
Stevens, J.5
Xu, G.6
Shannon, N.7
Robertson, M.8
White, R.9
Viskochil, D.10
-
16
-
-
0027765883
-
Cell transformation by ras and regulation of its protein product
-
Lowy DR, Johnson MR, DeClue JE, Cen H, Zhang K, Papageorge AG, Vass WC, Williamsen BM, Valentine MB, Look AT (1993) Cell transformation by ras and regulation of its protein product. Ciba Found Symp 176: 67-80
-
(1993)
Ciba Found Symp
, vol.176
, pp. 67-80
-
-
Lowy, D.R.1
Johnson, M.R.2
DeClue, J.E.3
Cen, H.4
Zhang, K.5
Papageorge, A.G.6
Vass, W.C.7
Williamsen, B.M.8
Valentine, M.B.9
Look, A.T.10
-
17
-
-
0026319619
-
cDNA cloning of the type1 neurofibromatosis gene: Complete sequence of the NF1 gene product
-
Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS (1991) cDNA cloning of the type1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 11: 931-940
-
(1991)
Genomics
, vol.11
, pp. 931-940
-
-
Marchuk, D.A.1
Saulino, A.M.2
Tavakkol, R.3
Swaroop, M.4
Wallace, M.R.5
Andersen, L.B.6
Mitchell, A.L.7
Gutmann, D.H.8
Boguski, M.9
Collins, F.S.10
-
18
-
-
0025251137
-
21
-
21.Cell 63: 843-849
-
(1990)
Cell
, vol.63
, pp. 843-849
-
-
Martin, G.A.1
Viskochil, D.2
Bollag, G.3
McCabe, P.C.4
Crosier, W.J.5
Haubruck, H.6
Conroy, L.7
Clark, R.8
O'Connell, P.9
Cawthon, R.M.10
Innis, M.A.11
McCormick, F.12
-
19
-
-
0029880365
-
Identification of neurofibromin mutants that exhibit allele-specificity or increased Ras affinity resulting in suppression of activated Ras alleles
-
Morcos P, Thapar N, Tusneem N, Stacey D, Tamanoi F (1996) Identification of neurofibromin mutants that exhibit allele-specificity or increased Ras affinity resulting in suppression of activated Ras alleles. Mol Cell Biol 16: 2496-2503
-
(1996)
Mol Cell Biol
, vol.16
, pp. 2496-2503
-
-
Morcos, P.1
Thapar, N.2
Tusneem, N.3
Stacey, D.4
Tamanoi, F.5
-
21
-
-
0028359659
-
Characterisation of inherited and sporadic mutations in neurofibromatosis type 1
-
Purandare SM, Lanyon WG, Connor JM (1994) Characterisation of inherited and sporadic mutations in neurofibromatosis type 1. Hum Mol Genet 3: 1109-1115
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1109-1115
-
-
Purandare, S.M.1
Lanyon, W.G.2
Connor, J.M.3
-
22
-
-
0030024492
-
Molecular genetics of neurofibromatosis type 1 (NF1)
-
Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33: 2-17
-
(1996)
J Med Genet
, vol.33
, pp. 2-17
-
-
Shen, M.H.1
Harper, P.S.2
Upadhyaya, M.3
-
23
-
-
0029028938
-
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
-
Upadhyaya M, Maynard J, Osborn MJ, Huson SM, Ponder M, Ponder BAJ, Harper PS (1995) Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. J Med Genet 32: 706-710
-
(1995)
J Med Genet
, vol.32
, pp. 706-710
-
-
Upadhyaya, M.1
Maynard, J.2
Osborn, M.J.3
Huson, S.M.4
Ponder, M.5
Ponder, B.A.J.6
Harper, P.S.7
-
24
-
-
0029120950
-
Loss of neurofibromin results in neutrophin independent survival of embryonic sensory and 8 sympathetic neurones
-
Vogel KS, Brannan CI, Jenkins NA, Copeland NG, Parada LF (1995) Loss of neurofibromin results in neutrophin independent survival of embryonic sensory and 8 sympathetic neurones. Cell 82: 733-742
-
(1995)
Cell
, vol.82
, pp. 733-742
-
-
Vogel, K.S.1
Brannan, C.I.2
Jenkins, N.A.3
Copeland, N.G.4
Parada, L.F.5
-
25
-
-
0025244911
-
The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements IRA mutants of S. cerevisiae
-
Xu G, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, Weiss R, Tamanoi F (1990) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements IRA mutants of S. cerevisiae. Cell 63: 835-841
-
(1990)
Cell
, vol.63
, pp. 835-841
-
-
Xu, G.1
Lin, B.2
Tanaka, K.3
Dunn, D.4
Wood, D.5
Gesteland, R.6
White, R.7
Weiss, R.8
Tamanoi, F.9
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