-
1
-
-
0030906364
-
NF1 mutation analysis using a combined heteroduplex/SSCP approach
-
Abernathy CA, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR. 1997. NF1 mutation analysis using a combined heteroduplex/SSCP approach. Hum Mut 9:548-554.
-
(1997)
Hum Mut
, vol.9
, pp. 548-554
-
-
Abernathy, C.A.1
Rasmussen, S.A.2
Stalker, H.J.3
Zori, R.4
Driscoll, D.J.5
Williams, C.A.6
Kousseff, B.G.7
Wallace, M.R.8
-
2
-
-
0028108498
-
Analysis of mutations in the SCH gene in schwannomas
-
Bijlsma EK, Merel P, Bosch DA, Westerveld A, Delattre O, Thomas G, Hulsebos TJM. 1994. Analysis of mutations in the SCH gene in schwannomas. Genes Chromosomes Cancer 11:7-14.
-
(1994)
Genes Chromosomes Cancer
, vol.11
, pp. 7-14
-
-
Bijlsma, E.K.1
Merel, P.2
Bosch, D.A.3
Westerveld, A.4
Delattre, O.5
Thomas, G.6
Hulsebos, T.J.M.7
-
3
-
-
0031030346
-
A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors
-
Cappione AJ, French BL, Skuse GR. 1997. A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors. Am J Hum Genet 60:305-312.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 305-312
-
-
Cappione, A.J.1
French, B.L.2
Skuse, G.R.3
-
4
-
-
0029160585
-
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene
-
Colman SD, Williams CA, Wallace MR. 1995. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 11:90-92.
-
(1995)
Nat Genet
, vol.11
, pp. 90-92
-
-
Colman, S.D.1
Williams, C.A.2
Wallace, M.R.3
-
5
-
-
0031578233
-
Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene
-
Daschner K, Assum G, Eisenbarth I, Krone W, Hoffmeyer S, Wortmann S, Heymer B, Kehrer-Sawatzki H. 1997. Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene. Biochem Biophys Res Commun 234:346-350.
-
(1997)
Biochem Biophys Res Commun
, vol.234
, pp. 346-350
-
-
Daschner, K.1
Assum, G.2
Eisenbarth, I.3
Krone, W.4
Hoffmeyer, S.5
Wortmann, S.6
Heymer, B.7
Kehrer-Sawatzki, H.8
-
7
-
-
0025804020
-
Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis
-
Glover TW, Stein CK, Legius E, Andersen LB, Brereton A, Johnson S. 1991. Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chromosomes Cancer 3:62-70.
-
(1991)
Genes Chromosomes Cancer
, vol.3
, pp. 62-70
-
-
Glover, T.W.1
Stein, C.K.2
Legius, E.3
Andersen, L.B.4
Brereton, A.5
Johnson, S.6
-
8
-
-
0000498063
-
Von Recklinghausen neutofibromatosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill, Inc.
-
Gutmann DH, Collins FS. 1995. Von Recklinghausen neutofibromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc. p 677-696.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 677-696
-
-
Gutmann, D.H.1
Collins, F.S.2
-
9
-
-
0029065934
-
Loss of neurofibromatosis type 1 (NF1) gene expression in pheochromocytomas from patients without NF1
-
Gutmann DH, Geist RT, Rose K, Wallin G, Moley J. 1995. Loss of neurofibromatosis type 1 (NF1) gene expression in pheochromocytomas from patients without NF1. Genes Chromosomes Cancer 13:104-109.
-
(1995)
Genes Chromosomes Cancer
, vol.13
, pp. 104-109
-
-
Gutmann, D.H.1
Geist, R.T.2
Rose, K.3
Wallin, G.4
Moley, J.5
-
10
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann DH, Ayslworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. 1997. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51-57.
-
(1997)
JAMA
, vol.278
, pp. 51-57
-
-
Gutmann, D.H.1
Ayslworth, A.2
Carey, J.C.3
Korf, B.4
Marks, J.5
Pyeritz, R.E.6
Rubenstein, A.7
Viskochil, D.8
-
11
-
-
0029002475
-
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
-
Heim RA, Kam-Morgan LNW, Binnie 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
Binnie, 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
-
12
-
-
0002928373
-
Neurofibromatosis 1: A clinical and genetic overview
-
Huson SM, Hughes RAC, editors. New York: Chapman & Hall Medical
-
Huson SM. 1994. Neurofibromatosis 1: a clinical and genetic overview. In: Huson SM, Hughes RAC, editors. The neurofibromatoses: a pathogenetic and clinical overview. New York: Chapman & Hall Medical, p 160-203.
-
(1994)
The Neurofibromatoses: A Pathogenetic and Clinical Overview
, pp. 160-203
-
-
Huson, S.M.1
-
13
-
-
0024205878
-
Von Recklinghausen neurofibromatosis: A clinical and population study in South East Wales
-
Huson SM, Harper PS, Compston DAS. 1988. Von Recklinghausen neurofibromatosis: a clinical and population study in South East Wales. Brain 111:1355-81.
-
(1988)
Brain
, vol.111
, pp. 1355-1381
-
-
Huson, S.M.1
Harper, P.S.2
Compston, D.A.S.3
-
14
-
-
0025097932
-
Paternal origin of new mutations in von Recklinghausen neurofibromatosis
-
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. Nature 343:558-559.
-
(1990)
Nature
, vol.343
, pp. 558-559
-
-
Jadayel, D.1
Fain, P.2
Upadhyaya, M.3
Ponder, M.A.4
Huson, S.M.5
Carey, J.6
Fryer, A.7
Mathew, C.G.P.8
Barker, D.F.9
Ponder, B.A.J.10
-
15
-
-
0032856294
-
Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas
-
Kluwe L, Friedrich RE, Mautner VF. 1999. Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. Cancer Genet Cytogenet 113:65-69.
-
(1999)
Cancer Genet Cytogenet
, vol.113
, pp. 65-69
-
-
Kluwe, L.1
Friedrich, R.E.2
Mautner, V.F.3
-
16
-
-
0027175495
-
Novel alleles, hemizygosity, and deletions at an Alu repeat within the neurofibromatosis type 1 (NF1) gene
-
Lazaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes J, Estivill X. 1993. Novel alleles, hemizygosity, and deletions at an Alu repeat within the neurofibromatosis type 1 (NF1) gene. Hum Mol Genet 2:725-730.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 725-730
-
-
Lazaro, C.1
Gaona, A.2
Ravella, A.3
Volpini, V.4
Casals, T.5
Fuentes, J.6
Estivill, X.7
-
17
-
-
0027468594
-
Somatic deletion ot 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 ot 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
-
18
-
-
0027159475
-
Genetic alterations in a malignant schwannoma from a patient with neurofibromatosis (NF1)
-
Lothe RA, Saeter G, Danielsen H, Stenwig AE, Hoyheim B, O'Connell P, Borresen AL. 1993. Genetic alterations in a malignant schwannoma from a patient with neurofibromatosis (NF1). Pathol Res Pract 189:465-471.
-
(1993)
Pathol Res Pract
, vol.189
, pp. 465-471
-
-
Lothe, R.A.1
Saeter, G.2
Danielsen, H.3
Stenwig, A.E.4
Hoyheim, B.5
O'Connell, P.6
Borresen, A.L.7
-
19
-
-
0028819644
-
Alterations at chromosome 17 loci in peripheral nerve sheath tumors
-
Lothe RA, Slettan A, Saeter G, Brogger A, Borresen AC, Nesland JM. 1995. Alterations at chromosome 17 loci in peripheral nerve sheath tumors. J Neuropathol Exp Neurol 54:65-73.
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 65-73
-
-
Lothe, R.A.1
Slettan, A.2
Saeter, G.3
Brogger, A.4
Borresen, A.C.5
Nesland, J.M.6
-
20
-
-
0342762036
-
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma
-
Martinsson T, Sjoberg RM, Hedborg F, Kogner P. 1997. Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. Cancer Genet Cytogenet 95:183-189.
-
(1997)
Cancer Genet Cytogenet
, vol.95
, pp. 183-189
-
-
Martinsson, T.1
Sjoberg, R.M.2
Hedborg, F.3
Kogner, P.4
-
21
-
-
0025815972
-
The MspI polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products
-
McDamel T, Carbone D, Takahashi T, Chumakov P, Chang E, Pirollo KF, Yin J, Huang Y, Meltzer SJ. 1991. The MspI polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products. Nucleic Acids Res 19:4796.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 4796
-
-
McDamel, T.1
Carbone, D.2
Takahashi, T.3
Chumakov, P.4
Chang, E.5
Pirollo, K.F.6
Yin, J.7
Huang, Y.8
Meltzer, S.J.9
-
22
-
-
0025108408
-
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis
-
Menon AG, Anderson KM, Riccardi VM, Chung RY, Whaley JM, Yandell DW, Farmer GE, Freiman RN, Lee JK, Li FP, Barker DF, Ledbetter DH, Kleider A, Martuza RL, Gusella JF, Seizinger BR. 1990. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci USA 87:5435-5439.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 5435-5439
-
-
Menon, A.G.1
Anderson, K.M.2
Riccardi, V.M.3
Chung, R.Y.4
Whaley, J.M.5
Yandell, D.W.6
Farmer, G.E.7
Freiman, R.N.8
Lee, J.K.9
Li, F.P.10
Barker, D.F.11
Ledbetter, D.H.12
Kleider, A.13
Martuza, R.L.14
Gusella, J.F.15
Seizinger, B.R.16
-
23
-
-
0024387728
-
Mutations in the p53 gene occur in diverse human tumour types
-
Nigro JM, Baker SJ, Preisinger AC, Jessup JM, Hostetter R, Cleary K, Bigner SH, Davidson N. Baylin S, Devilee P, Glover T, Collins FS, Weston A, Modali R, Harris CC, Vogelstein B. 1989. Mutations in the p53 gene occur in diverse human tumour types. Nature 342:705-708.
-
(1989)
Nature
, vol.342
, pp. 705-708
-
-
Nigro, J.M.1
Baker, S.J.2
Preisinger, A.C.3
Jessup, J.M.4
Hostetter, R.5
Cleary, K.6
Bigner, S.H.7
Davidson, N.8
Baylin, S.9
Devilee, P.10
Glover, T.11
Collins, F.S.12
Weston, A.13
Modali, R.14
Harris, C.C.15
Vogelstein, B.16
-
24
-
-
0031657522
-
Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients
-
Park V, Pivnick E. 1998. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet 35:813-820.
-
(1998)
J Med Genet
, vol.35
, pp. 813-820
-
-
Park, V.1
Pivnick, E.2
-
25
-
-
0028957642
-
Mutations in the APC gene and their implications for protein structure and function
-
Polakis P. 1995. Mutations in the APC gene and their implications for protein structure and function. Curr Opin Genet Dev 5:66-71.
-
(1995)
Curr Opin Genet Dev
, vol.5
, pp. 66-71
-
-
Polakis, P.1
-
26
-
-
0031799411
-
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1
-
Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR. 1998. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J Med Genet 35:468-471.
-
(1998)
J Med Genet
, vol.35
, pp. 468-471
-
-
Rasmussen, S.A.1
Colman, S.D.2
Ho, V.T.3
Abernathy, C.R.4
Arn, P.H.5
Weiss, L.6
Schwartz, C.7
Saul, R.A.8
Wallace, M.R.9
-
27
-
-
0029745770
-
Identification of NF1 mutations in both alleles of a dermal neurofibroma
-
Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil D. 1996. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 14:110-112.
-
(1996)
Nat Genet
, vol.14
, pp. 110-112
-
-
Sawada, S.1
Florell, S.2
Purandare, S.M.3
Ota, M.4
Stephens, K.5
Viskochil, D.6
-
28
-
-
0030850675
-
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
-
Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lazaro C. 1997. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 61:512-519.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 512-519
-
-
Serra, E.1
Puig, S.2
Otero, D.3
Gaona, A.4
Kruyer, H.5
Ars, E.6
Estivill, X.7
Lazaro, C.8
-
29
-
-
0027979146
-
Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders
-
Shannon KM, O'Connell P, Martin GA, Paderanga D, Olson K, Dinndorf P, McCormick F. 1994. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597-601.
-
(1994)
N Engl J Med
, vol.330
, pp. 597-601
-
-
Shannon, K.M.1
O'Connell, P.2
Martin, G.A.3
Paderanga, D.4
Olson, K.5
Dinndorf, P.6
McCormick, F.7
-
30
-
-
0030947237
-
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders
-
Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, Shannon K. 1997. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 336:1713-1720.
-
(1997)
N Engl J Med
, vol.336
, pp. 1713-1720
-
-
Side, L.1
Taylor, B.2
Cayouette, M.3
Conner, E.4
Thompson, P.5
Luce, M.6
Shannon, K.7
-
31
-
-
0024957180
-
Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17
-
Skuse GR, Kosciolek BA, Rowley PT. 1989. Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17. Genes Chromosomes Cancer 1:36-41.
-
(1989)
Genes Chromosomes Cancer
, vol.1
, pp. 36-41
-
-
Skuse, G.R.1
Kosciolek, B.A.2
Rowley, P.T.3
-
32
-
-
0029691571
-
The p53 tumor suppressor gene: A model for molecular epidemiology of human cancer
-
Soussi T. 1996. The p53 tumor suppressor gene: a model for molecular epidemiology of human cancer. Mol Med Today 2:32-37.
-
(1996)
Mol Med Today
, vol.2
, pp. 32-37
-
-
Soussi, T.1
-
33
-
-
0031778870
-
CT imaging in adults with neurofibromatosis-1: Frequent asymptomatic plexiform lesions
-
Tonsgard JH, Kwak SM, Short MP, Dachman A. 1998. CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology 50:1755-1760.
-
(1998)
Neurology
, vol.50
, pp. 1755-1760
-
-
Tonsgard, J.H.1
Kwak, S.M.2
Short, M.P.3
Dachman, A.4
-
34
-
-
0033986253
-
Culture of cytogenetically abnormal Schwann cells from benign and malignant NF1 tumors
-
Wallace MR, Rasmussen SA, Lim IT, Gray B, Zori RT, Muir D. 2000. Culture of cytogenetically abnormal Schwann cells from benign and malignant NF1 tumors. Genes Chromosomes Cancer 27:117-123.
-
(2000)
Genes Chromosomes Cancer
, vol.27
, pp. 117-123
-
-
Wallace, M.R.1
Rasmussen, S.A.2
Lim, I.T.3
Gray, B.4
Zori, R.T.5
Muir, D.6
-
35
-
-
0026655421
-
Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis
-
Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CGP, Ponder BAJ. 1992. Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chromosomes Cancer 4:337-342.
-
(1992)
Genes Chromosomes Cancer
, vol.4
, pp. 337-342
-
-
Xu, W.1
Mulligan, L.M.2
Ponder, M.A.3
Liu, L.4
Smith, B.A.5
Mathew, C.G.P.6
Ponder, B.A.J.7
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