-
1
-
-
84870227493
-
The neurofibromatosis: Classification, clinical features and genetic counselling
-
D. Kaufmann, ed, Karger: Basel
-
S.M. Huson, The neurofibromatosis: Classification, clinical features and genetic counselling, in: Neurofibromatoses, D. Kaufmann, ed., Karger: Basel, 2008, pp. 1-20.
-
(2008)
Neurofibromatoses
, pp. 1-20
-
-
Huson, S.M.1
-
2
-
-
33845974480
-
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation
-
M. Upadhyaya, S.M. Huson, M. Davies et al., An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation, Am J Hum Genet 80 (2007), 140-151.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 140-151
-
-
Upadhyaya, M.1
Huson, S.M.2
Davies, M.3
-
3
-
-
0028902601
-
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1, A twelve-year follow-up of an epidemiological study in Göteborg, Sweden
-
M. Zöller, B. Rembeck, H.O. Akesson and L. Angervall, Life expectancy, mortality and prognostic factors in neurofibromatosis type 1, A twelve-year follow-up of an epidemiological study in Göteborg, Sweden, Acta Derm Venereol 75 (1995), 136-140.
-
(1995)
Acta Derm Venereol
, vol.75
, pp. 136-140
-
-
Zöller, M.1
Rembeck, B.2
Akesson, H.O.3
Angervall, L.4
-
4
-
-
35449000544
-
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types
-
G. Spurlock, S. Griffiths, J. Uff and M. Upadhyaya, Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types, Fam Cancer 6 (2007), 463-471.
-
(2007)
Fam Cancer
, vol.6
, pp. 463-471
-
-
Spurlock, G.1
Griffiths, S.2
Uff, J.3
Upadhyaya, M.4
-
5
-
-
38149064478
-
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)
-
M. Upadhyaya, L. Kluwe, G. Spurlock et al., Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs), Hum Mutat 29 (2008), 74-82.
-
(2008)
Hum Mutat
, vol.29
, pp. 74-82
-
-
Upadhyaya, M.1
Kluwe, L.2
Spurlock, G.3
-
6
-
-
0036096489
-
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
-
D.G.R. Evans, M.E. Baser, J. McGaughran, S. Sharif, E. Howard and A. Moran, Malignant peripheral nerve sheath tumours in neurofibromatosis 1, J Med Genet 39 (2002), 311-314.
-
(2002)
J Med Genet
, vol.39
, pp. 311-314
-
-
Evans, D.G.R.1
Baser, M.E.2
McGaughran, J.3
Sharif, S.4
Howard, E.5
Moran, A.6
-
7
-
-
33847316896
-
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
-
R.E. Ferner, S.M. Huson, N. Thomas et al., Guidelines for the diagnosis and management of individuals with neurofibromatosis 1, J Med Genet 44 (2007), 81-88.
-
(2007)
J Med Genet
, vol.44
, pp. 81-88
-
-
Ferner, R.E.1
Huson, S.M.2
Thomas, N.3
-
8
-
-
34547796898
-
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
-
O. Maertens, S. De Schepper, J. Vandesompele et al., Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1, Am J Hum Genet 81 (2007), 243-251.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 243-251
-
-
Maertens, O.1
De Schepper, S.2
Vandesompele, J.3
-
9
-
-
0002056513
-
The mutational spectrum in neurofibromatosis 1 and its underlying mechanisms
-
M. Upadhyaya and D.N.Cooper, eds, Oxford: BIOS Scientific Publishers
-
M. Upadhyaya and D.N. Cooper, The mutational spectrum in neurofibromatosis 1 and its underlying mechanisms, in: Neurofibromatosis Type 1 from Genotype to Phenotype, M. Upadhyaya and D.N.Cooper, eds, Oxford: BIOS Scientific Publishers, 1998, pp. 65-82.
-
(1998)
Neurofibromatosis Type 1 from Genotype to Phenotype
, pp. 65-82
-
-
Upadhyaya, M.1
Cooper, D.N.2
-
10
-
-
0035936783
-
NF1 tumor suppressor gene function: Narrowing the GAP
-
K. Cichowski and T. Jacks, NF1 tumor suppressor gene function: Narrowing the GAP, Cell 104 (2001), 593-604.
-
(2001)
Cell
, vol.104
, pp. 593-604
-
-
Cichowski, K.1
Jacks, T.2
-
11
-
-
33947429718
-
Neurofibromatosis
-
A.I. McClatchey, Neurofibromatosis. Annu Rev Pathol 2 (2007), 191-216.
-
(2007)
Annu Rev Pathol
, vol.2
, pp. 191-216
-
-
McClatchey, A.I.1
-
12
-
-
1842610572
-
Recent advances in neurofibromatosis type 1
-
D. Arun and D. Gutmann, Recent advances in neurofibromatosis type 1, Curr Opin Neurol 17 (2004), 101-105.
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 101-105
-
-
Arun, D.1
Gutmann, D.2
-
13
-
-
0033879512
-
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours
-
M.P. Horan, D.N. Cooper and M. Upadhyaya, Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours, Hum Genet 107 (2000), 33-39.
-
(2000)
Hum Genet
, vol.107
, pp. 33-39
-
-
Horan, M.P.1
Cooper, D.N.2
Upadhyaya, M.3
-
14
-
-
13844296571
-
Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells
-
L. Fishbein, B. Eady, N. Sanek, D. Muir and M.R. Wallace, Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells, Cancer Genet Cytogenet 157 (2005), 181-186.
-
(2005)
Cancer Genet Cytogenet
, vol.157
, pp. 181-186
-
-
Fishbein, L.1
Eady, B.2
Sanek, N.3
Muir, D.4
Wallace, M.R.5
-
15
-
-
33645116938
-
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras
-
F. Hannan, I. Ho, J.J. Tong, Y. Zhu, P. Nurnberg and Y. Zhong, Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras, Hum Mol Genet 15 (2006), 1087-1098.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1087-1098
-
-
Hannan, F.1
Ho, I.2
Tong, J.J.3
Zhu, Y.4
Nurnberg, P.5
Zhong, Y.6
-
16
-
-
0030996903
-
-
I. The, G.E. Hannigan, G.S. Cowley et al., Rescue of a Drosophila NF1 mutant phenotype by protein kinase A, Science 276 (1997), 791-794.
-
I. The, G.E. Hannigan, G.S. Cowley et al., Rescue of a Drosophila NF1 mutant phenotype by protein kinase A, Science 276 (1997), 791-794.
-
-
-
-
17
-
-
0033083796
-
Neurofibromatosis type 1 peripheral nerve tumors: Aberrant activation of the Ras pathway
-
M.M. Feldkamp, L. Angelov and A. Guha, Neurofibromatosis type 1 peripheral nerve tumors: Aberrant activation of the Ras pathway, Surg Neurol 51 (1999), 211-218.
-
(1999)
Surg Neurol
, vol.51
, pp. 211-218
-
-
Feldkamp, M.M.1
Angelov, L.2
Guha, A.3
-
18
-
-
0034642298
-
Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two Schwann cells subpopulations
-
E. Serra, T. Rosenbaum, U. Winner et al., Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two Schwann cells subpopulations, Hum Mol Genet 9 (2000), 3055-3064.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3055-3064
-
-
Serra, E.1
Rosenbaum, T.2
Winner, U.3
-
19
-
-
38549108547
-
Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation
-
H. Zheng, L. Chang, N. Patel et al., Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation, Cancer Cell 13 (2008), 117-128.
-
(2008)
Cancer Cell
, vol.13
, pp. 117-128
-
-
Zheng, H.1
Chang, L.2
Patel, N.3
-
20
-
-
38549102668
-
The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells
-
N.M. Joseph, J.T. Mosher, J. Buchstaller et al., The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells, Cancer Cell 13 (2008), 129-140.
-
(2008)
Cancer Cell
, vol.13
, pp. 129-140
-
-
Joseph, N.M.1
Mosher, J.T.2
Buchstaller, J.3
-
21
-
-
33749032129
-
Malignant peripheral nerve sheath tumors (MPNST)-clinicopathological study and treatment outcome of twenty-four cases
-
M. Kar, S.V. Deo, N.K. Shukla et al., Malignant peripheral nerve sheath tumors (MPNST)-clinicopathological study and treatment outcome of twenty-four cases, World J Surg Oncol 4 (2006), 55.
-
(2006)
World J Surg Oncol
, vol.4
, pp. 55
-
-
Kar, M.1
Deo, S.V.2
Shukla, N.K.3
-
22
-
-
0037012848
-
Neurofibromas in NF1: Schwann cell origin and role of tumor environment
-
Y. Zhu, P. Ghosh, P. Charnay, D.K. Burns and L.F. Parada, Neurofibromas in NF1: Schwann cell origin and role of tumor environment, Science 296 (2002), 920-922.
-
(2002)
Science
, vol.296
, pp. 920-922
-
-
Zhu, Y.1
Ghosh, P.2
Charnay, P.3
Burns, D.K.4
Parada, L.F.5
-
23
-
-
34347372927
-
Tumor microenvironment and neurofibromatosis type 1: Connecting the GAPs
-
L.Q. Le and L.F. Parada, Tumor microenvironment and neurofibromatosis type 1: Connecting the GAPs, Oncogene 26 (2007), 4609-4616.
-
(2007)
Oncogene
, vol.26
, pp. 4609-4616
-
-
Le, L.Q.1
Parada, L.F.2
-
24
-
-
33645285906
-
Neurofibromatosis type 1: New insights into neurocognitive issues
-
M.T. Acosta, G.A. Gioia and A.J. Silva, Neurofibromatosis type 1: New insights into neurocognitive issues, Curr Neurol Neurosci Rep 6 (2006), 136-143.
-
(2006)
Curr Neurol Neurosci Rep
, vol.6
, pp. 136-143
-
-
Acosta, M.T.1
Gioia, G.A.2
Silva, A.J.3
-
25
-
-
39749145210
-
NF1 microduplication first clinical report: Association with mild mental retardation, early onset of baldness and dental enamal hypoplasia?
-
B. Grisart, K. Rack, S. Vidrequin et al., NF1 microduplication first clinical report: Association with mild mental retardation, early onset of baldness and dental enamal hypoplasia? Eur J Hum Genet 16 (2008), 305-311.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 305-311
-
-
Grisart, B.1
Rack, K.2
Vidrequin, S.3
-
26
-
-
21644485013
-
Intelligence in individuals with a neurofibromatosis type 1 microdeletion
-
M.J. Descheemaeker, K. Roelandts, T. De Raedt, H. Brems, J.P. Fryns and E. Legius, Intelligence in individuals with a neurofibromatosis type 1 microdeletion, Am J Med Genet 131 (2004), 325-326.
-
(2004)
Am J Med Genet
, vol.131
, pp. 325-326
-
-
Descheemaeker, M.J.1
Roelandts, K.2
De Raedt, T.3
Brems, H.4
Fryns, J.P.5
Legius, E.6
-
27
-
-
0034708076
-
A neurofibromatosis-1-regulated pathway is required for learning in Drosophila
-
H.F. Guo, J. Tong, F. Hannan, L. Luo and Y. Zhong, A neurofibromatosis-1-regulated pathway is required for learning in Drosophila, Nature 403 (2000), 895-898.
-
(2000)
Nature
, vol.403
, pp. 895-898
-
-
Guo, H.F.1
Tong, J.2
Hannan, F.3
Luo, L.4
Zhong, Y.5
-
28
-
-
34447307686
-
Neurofibromin signaling and synapses
-
Y.P. Hsueh, Neurofibromin signaling and synapses, J Biomed Sci 14 (2007), 461-466.
-
(2007)
J Biomed Sci
, vol.14
, pp. 461-466
-
-
Hsueh, Y.P.1
-
29
-
-
27644517404
-
The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1
-
W. Li, Y. Cui, S.A. Kushner et al., The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1, Curr Biol 15 (2005), 1961-1967.
-
(2005)
Curr Biol
, vol.15
, pp. 1961-1967
-
-
Li, W.1
Cui, Y.2
Kushner, S.A.3
-
30
-
-
0037562897
-
NF1 mutations and clinical spectrum in patients with spinal neurofibromas
-
L. Kluwe, M. Tatagiba, C. Funsterer and V.F. Mautner, NF1 mutations and clinical spectrum in patients with spinal neurofibromas, J Med Genet 40 (2003), 368-371.
-
(2003)
J Med Genet
, vol.40
, pp. 368-371
-
-
Kluwe, L.1
Tatagiba, M.2
Funsterer, C.3
Mautner, V.F.4
-
32
-
-
33947594129
-
Hyperactive Ras in developmental disorders and cancer
-
S. Schubbert, K. Shannon and G. Bollag, Hyperactive Ras in developmental disorders and cancer, Nat Rev Cancer 7 (2007), 295-308.
-
(2007)
Nat Rev Cancer
, vol.7
, pp. 295-308
-
-
Schubbert, S.1
Shannon, K.2
Bollag, G.3
-
33
-
-
30144442616
-
Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications
-
O.N. Gottfried, D.H. Viskochil, D.W. Fults and W.T. Couldwell, Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications, Neurosurgery 58 (2006), 1-16.
-
(2006)
Neurosurgery
, vol.58
, pp. 1-16
-
-
Gottfried, O.N.1
Viskochil, D.H.2
Fults, D.W.3
Couldwell, W.T.4
-
34
-
-
33644829154
-
Stops along the RAS pathway in human genetic disease
-
M. Bentires-Alj, M.I. Kontaridis and B.G. Neel, Stops along the RAS pathway in human genetic disease, Nat Med 12 (2006), 283-285.
-
(2006)
Nat Med
, vol.12
, pp. 283-285
-
-
Bentires-Alj, M.1
Kontaridis, M.I.2
Neel, B.G.3
-
35
-
-
37249013316
-
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: Genotype-phenotype relationships and overlap with Costello syndrome
-
C. Nava, N. Hanna, C. Michot et al., Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome, J Med Genet 44 (2007), 763-771.
-
(2007)
J Med Genet
, vol.44
, pp. 763-771
-
-
Nava, C.1
Hanna, N.2
Michot, C.3
-
36
-
-
50049116085
-
Noonan and cardio-facio-cutaneous syndromes: Two clinically and genetically overlapping disorders
-
A.M. Nyström, S. Ekvall, E. Berglund et al., Noonan and cardio-facio-cutaneous syndromes: Two clinically and genetically overlapping disorders, J Med Genet 45 (2008), 500-506.
-
(2008)
J Med Genet
, vol.45
, pp. 500-506
-
-
Nyström, A.M.1
Ekvall, S.2
Berglund, E.3
-
37
-
-
56049088767
-
Clinical and molecular aspects of Ras-related disorders
-
E. Denayer, T. de Ravel and E. Legius, Clinical and molecular aspects of Ras-related disorders, J Med Genet 45 (2008), 695-703.
-
(2008)
J Med Genet
, vol.45
, pp. 695-703
-
-
Denayer, E.1
de Ravel, T.2
Legius, E.3
-
38
-
-
34548328245
-
Germline lossof- function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
-
H. Brems, M. Chmara, M. Sahbatou et al., Germline lossof- function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype, Nat Genet 39 (2007), 1120-1126.
-
(2007)
Nat Genet
, vol.39
, pp. 1120-1126
-
-
Brems, H.1
Chmara, M.2
Sahbatou, M.3
-
39
-
-
34548751238
-
Getting a first clue about SPRED functions
-
K. Bundschu, U. Walter and K. Schuh, Getting a first clue about SPRED functions, Bioessays 29 (2007), 897-907.
-
(2007)
Bioessays
, vol.29
, pp. 897-907
-
-
Bundschu, K.1
Walter, U.2
Schuh, K.3
-
40
-
-
33749836283
-
Spreds, inhibitors of the Ras/ ERK signal transduction, are dysregulated in human hepatocellular carcinoma and linked to the malignant phenotype of tumors
-
T. Yoshida, T. Hisamoto, J. Akiba et al., Spreds, inhibitors of the Ras/ ERK signal transduction, are dysregulated in human hepatocellular carcinoma and linked to the malignant phenotype of tumors, Oncogene 25 (2006), 6056-6066.
-
(2006)
Oncogene
, vol.25
, pp. 6056-6066
-
-
Yoshida, T.1
Hisamoto, T.2
Akiba, J.3
-
41
-
-
29144462041
-
Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
-
P. Bandipalliam, Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations, Fam Cancer 4 (2005), 323-333.
-
(2005)
Fam Cancer
, vol.4
, pp. 323-333
-
-
Bandipalliam, P.1
-
42
-
-
37149004897
-
Homozygosity at variant MLH1 can lead to secondary mutation in NF1 and early onset leukemia
-
H. Alotaibi, M.D. Ricciardone and M. Ozturk, Homozygosity at variant MLH1 can lead to secondary mutation in NF1 and early onset leukemia, Mutat Res 637 (2008), 209-214.
-
(2008)
Mutat Res
, vol.637
, pp. 209-214
-
-
Alotaibi, H.1
Ricciardone, M.D.2
Ozturk, M.3
-
43
-
-
50649111364
-
Constitutional mismatch repairdeficiency syndrome: Have so far seen only the tip of an iceberg?
-
K. Wimmer and J. Etzler, Constitutional mismatch repairdeficiency syndrome: Have so far seen only the tip of an iceberg? Hum Genet 124 (2008), 105-122.
-
(2008)
Hum Genet
, vol.124
, pp. 105-122
-
-
Wimmer, K.1
Etzler, J.2
-
44
-
-
31144453233
-
BRAFmutation predicts sensitivity to MEK inhibition
-
D.B. Solit, L.A. Garraway, C.A. Pratilas et al., BRAFmutation predicts sensitivity to MEK inhibition, Nature 439 (2006), 358-362.
-
(2006)
Nature
, vol.439
, pp. 358-362
-
-
Solit, D.B.1
Garraway, L.A.2
Pratilas, C.A.3
-
45
-
-
47549111338
-
Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial
-
L.C. Krab, A. de Goede-Bolder, F.K. Aarsen et al., Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial, JAMA 300 (2008), 287-294.
-
(2008)
JAMA
, vol.300
, pp. 287-294
-
-
Krab, L.C.1
de Goede-Bolder, A.2
Aarsen, F.K.3
-
46
-
-
49949110162
-
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin
-
M. Kolanczyk, J. Kuhnisch, N. Kossler et al., Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin, BMC Med 6 (2008), 21.
-
(2008)
BMC Med
, vol.6
, pp. 21
-
-
Kolanczyk, M.1
Kuhnisch, J.2
Kossler, N.3
-
47
-
-
44449093081
-
TORC1 is essential for NF1-associated malignancies
-
C.M. Johannessen, B.W. Johnson, S.M. Williams et al., TORC1 is essential for NF1-associated malignancies, Curr Biol 18 (2008), 56-62.
-
(2008)
Curr Biol
, vol.18
, pp. 56-62
-
-
Johannessen, C.M.1
Johnson, B.W.2
Williams, S.M.3
-
48
-
-
33846655745
-
HRAS and the Costello syndrome
-
K.A. Rauen, HRAS and the Costello syndrome, Clin Genet 71 (2007), 101-108.
-
(2007)
Clin Genet
, vol.71
, pp. 101-108
-
-
Rauen, K.A.1
|