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1
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0033605484
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Epidemiology of neurofibromatosis type 1
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PID: 10469430, COI: 1:STN:280:DyaK1Mzpsl2guw%3D%3D
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Friedman JM: Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999, 89:1–6. DOI: 10.1002/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8
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(1999)
Am J Med Genet
, vol.89
, pp. 1-6
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Friedman, J.M.1
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3
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0030957310
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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
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PID: 9207339, COI: 1:STN:280:DyaK2szltV2lsQ%3D%3D
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Gutmann DH, Aylsworth A, Carey JC, et al.: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997, 278:51–57. DOI: 10.1001/jama.278.1.51
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(1997)
JAMA
, vol.278
, pp. 51-57
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Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
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4
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0034094731
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Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children
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PID: 10699117, COI: 1:STN:280:DC%2BD3c7msV2ktA%3D%3D
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DeBella K, Szudek J, Friedman JM: Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000, 105:608–614. DOI: 10.1542/peds.105.3.608
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(2000)
Pediatrics
, vol.105
, pp. 608-614
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DeBella, K.1
Szudek, J.2
Friedman, J.M.3
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5
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0034091759
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Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children
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PID: 10762507, COI: 1:STN:280:DC%2BD3c3islyksw%3D%3D
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DeBella K, Poskitt K, Szudek J, Friedman JM: Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 2000, 54:1646–1651.
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(2000)
Neurology
, vol.54
, pp. 1646-1651
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DeBella, K.1
Poskitt, K.2
Szudek, J.3
Friedman, J.M.4
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6
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0034679909
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Parents’ responses to their child’s diagnosis of neurofibromatosis 1
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PID: 10869117, COI: 1:STN:280:DC%2BD3czislWgsA%3D%3D
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Ablon J: Parents’ responses to their child’s diagnosis of neurofibromatosis 1. Am J Med Genet 2000, 93:136–142. DOI: 10.1002/1096-8628(20000717)93:2<136::AID-AJMG11>3.0.CO;2-L
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(2000)
Am J Med Genet
, vol.93
, pp. 136-142
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Ablon, J.1
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7
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0034081412
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
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PID: 10862084, COI: 1:CAS:528:DC%2BD3cXks1Snsrk%3D, This paper demonstrates that use of a multistep process can result a high rate of detection of NF1 gene mutations. Although the process is laborious, it offers an approach that may result a diagtic test for neurofibromatosis type 1
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Messiaen LM, 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 2000, 15:541–555. This paper demonstrates that use of a multistep process can result in a high rate of detection of NF1 gene mutations. Although the process is laborious, it offers an approach that may result in a diagnostic test for neurofibromatosis type 1. DOI: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N
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(2000)
Hum Mutat
, vol.15
, pp. 541-555
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Messiaen, L.M.1
Callens, T.2
Mortier, G.3
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8
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0033924917
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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain
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PID: 10712197, COI: 1:CAS:528:DC%2BD3cXisFShsLw%3D, This is the largest set of NF1 mutations reported to date. The clustering of missense mutations between exons 11–17 suggests the occurrence of a functional domain other than the GAP-related domain
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Fahsold R, Hoffmeyer S, Mischung C, et al.: Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 2000, 66:790–818. This is the largest set of NF1 mutations reported to date. The clustering of missense mutations between exons 11–17 suggests the occurrence of a functional domain other than the GAP-related domain. DOI: 10.1086/302809
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(2000)
Am J Hum Genet
, vol.66
, pp. 790-818
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Fahsold, R.1
Hoffmeyer, S.2
Mischung, C.3
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9
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0032727412
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Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
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Lopez CC, Brems H, Lazaro C, et al.: Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 1999, 14:387–393. DOI: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
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(1999)
Hum Mutat
, vol.14
, pp. 387-393
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Lopez, C.C.1
Brems, H.2
Lazaro, C.3
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10
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0034657340
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A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions
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PID: 10843809, COI: 1:CAS:528:DC%2BD3cXjslKiur4%3D
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Jenne DE, Tinschert S, Stegmann E, et al.: A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Genomics 2000, 66:93–97. DOI: 10.1006/geno.2000.6179
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(2000)
Genomics
, vol.66
, pp. 93-97
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Jenne, D.E.1
Tinschert, S.2
Stegmann, E.3
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11
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0033911949
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Unequal meiotic crossover: a frequent cause of NF1 microdeletions
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COI: 1:CAS:528:DC%2BD3cXntV2ju70%3D, This paper provides a likely explanation for the etiology of large NF1 deletions by unequal crossing over between two repeated sequences
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Correa CL, Brems H, Lazaro C, et al.: Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 2000, 66:1969–1974. This paper provides a likely explanation for the etiology of large NF1 deletions by unequal crossing over between two repeated sequences. DOI: 10.1086/302920
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(2000)
Am J Hum Genet
, vol.66
, pp. 1969-1974
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Correa, C.L.1
Brems, H.2
Lazaro, C.3
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12
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0033909456
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NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes
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PID: 10631140, COI: 1:CAS:528:DC%2BD3cXhtVWks7Y%3D
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Riva P, Corrado L, Natacci F, et al.: NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000, 66:100–109. DOI: 10.1086/302709
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(2000)
Am J Hum Genet
, vol.66
, pp. 100-109
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Riva, P.1
Corrado, L.2
Natacci, F.3
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13
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0034057657
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NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
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PID: 10587576, COI: 1:CAS:528:DC%2BD3cXmt1ertg%3D%3D
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Dorschner MO, Sybert VP, Weaver M, et al.: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000, 9:35–46. DOI: 10.1093/hmg/9.1.35
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(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
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Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
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14
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0034080551
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Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
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PID: 10878667, COI: 1:CAS:528:DC%2BD3cXltlOitrw%3D
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Tinschert S, Naumann I, Stegmann E, et al.: Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000, 8:455–459. DOI: 10.1038/sj.ejhg.5200493
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(2000)
Eur J Hum Genet
, vol.8
, pp. 455-459
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Tinschert, S.1
Naumann, I.2
Stegmann, E.3
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15
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0032982865
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A clinical study of type 1 neurofibromatosis in north west England
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PID: 10204844, COI: 1:STN:280:DyaK1M3hvFGgug%3D%3D
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McGaughran JM, Harris DI, Donnai D, et al.: A clinical study of type 1 neurofibromatosis in north west England. J Med Genet 1999, 36:197–203.
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(1999)
J Med Genet
, vol.36
, pp. 197-203
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McGaughran, J.M.1
Harris, D.I.2
Donnai, D.3
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16
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0032880697
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Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety
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PID: 10525761, COI: 1:STN:280:DyaK1Mvls12quw%3D%3D
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Thakkar SD, Feigen U, Mautner VF: Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety. Neuroradiology 1999, 41:625–629. DOI: 10.1007/s002340050814
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(1999)
Neuroradiology
, vol.41
, pp. 625-629
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Thakkar, S.D.1
Feigen, U.2
Mautner, V.F.3
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17
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0032927938
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Cervical neurofibromas in children with NF-1
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PID: 10382213, COI: 1:STN:280:DyaK1MzhtFahsA%3D%3D
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Chung CJ, Armfield KB, Mukherji SK, et al.: Cervical neurofibromas in children with NF-1. Pediatr Radiol 1999, 29:353–356. DOI: 10.1007/s002470050605
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(1999)
Pediatr Radiol
, vol.29
, pp. 353-356
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Chung, C.J.1
Armfield, K.B.2
Mukherji, S.K.3
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18
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0343856490
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Neurological complications of neurofibromatosis type 1 in adulthood
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PID: 10094256
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Creange A, Zeller J, Rostaing-Rigattieri S, et al.: Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999, 122(Pt 3):473–481. DOI: 10.1093/brain/122.3.473
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(1999)
Brain
, vol.122
, pp. 473-481
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Creange, A.1
Zeller, J.2
Rostaing-Rigattieri, S.3
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19
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0342803213
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Headaches in patients with neurofibromatosis-1
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PID: 10805189
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DiMario FJ Jr, Langshur S: Headaches in patients with neurofibromatosis-1. J Child Neurol 2000, 15:235–238.
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(2000)
J Child Neurol
, vol.15
, pp. 235-238
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DiMario, F.J.1
Langshur, S.2
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20
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0032947816
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Malignant peripheral nerve sheath tumours associated with von Recklinghausen’s neurofibromatosis
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PID: 10218464, COI: 1:STN:280:DyaK1M3jt1ygsA%3D%3D
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Ramanathan RC, Thomas JM: Malignant peripheral nerve sheath tumours associated with von Recklinghausen’s neurofibromatosis. Eur J Surg Oncol 1999, 25:190–193. DOI: 10.1053/ejso.1998.0625
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(1999)
Eur J Surg Oncol
, vol.25
, pp. 190-193
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Ramanathan, R.C.1
Thomas, J.M.2
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21
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0033621549
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Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1
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PID: 10675220, COI: 1:STN:280:DC%2BD3c7jvFCmtQ%3D%3D, If confirmed, this could result a method of distinguishing benign from malignant peripheral nerve sheath tumors
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Ferner RE, Lucas JD, O’Doherty MJ, et al.: Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry 2000, 68:353–357. If confirmed, this could result in a method of distinguishing benign from malignant peripheral nerve sheath tumors. DOI: 10.1136/jnnp.68.3.353
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(2000)
J Neurol Neurosurg Psychiatry
, vol.68
, pp. 353-357
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Ferner, R.E.1
Lucas, J.D.2
O’Doherty, M.J.3
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22
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0033504590
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Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1
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PID: 10778734, COI: 1:STN:280:DC%2BD3c3jvFSjtw%3D%3D
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Listernick R, Charrow J, Tomita T, Goldman S: Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncol 1999, 45:185–190. DOI: 10.1023/A:1006338322266
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(1999)
J Neurooncol
, vol.45
, pp. 185-190
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Listernick, R.1
Charrow, J.2
Tomita, T.3
Goldman, S.4
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23
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0034729388
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Growth charts for young children with neurofibromatosis 1 (NF1) [letter]
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Zudek J, Birch P, Friedman JM: Growth charts for young children with neurofibromatosis 1 (NF1) [letter]. Am J Med Genet 2000, 92:224–228. DOI: 10.1002/(SICI)1096-8628(20000529)92:3<224::AID-AJMG12>3.0.CO;2-J
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(2000)
Am J Med Genet
, vol.92
, pp. 224-228
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Zudek, J.1
Birch, P.2
Friedman, J.M.3
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24
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4243906031
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Neurofibromatosis type 1 growth charts
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PID: 10588837, COI: 1:STN:280:DC%2BD3c%2Fls1Sisg%3D%3D
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Clementi M, Milani S, Mammi I, et al.: Neurofibromatosis type 1 growth charts. Am J Med Genet 1999, 87:317–323. DOI: 10.1002/(SICI)1096-8628(19991203)87:4<317::AID-AJMG7>3.0.CO;2-X
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(1999)
Am J Med Genet
, vol.87
, pp. 317-323
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Clementi, M.1
Milani, S.2
Mammi, I.3
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25
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0033000729
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Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study
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PID: 10353939, COI: 1:STN:280:DyaK1M3ot1OgtQ%3D%3D
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Carmi D, Shohat M, Metzker A, Dickerman Z: Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study. Pediatrics 1999, 103:1257–1262. DOI: 10.1542/peds.103.6.1257
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(1999)
Pediatrics
, vol.103
, pp. 1257-1262
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Carmi, D.1
Shohat, M.2
Metzker, A.3
Dickerman, Z.4
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26
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0033962219
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Modulation of spinal deformities in patients with neurofibromatosis type 1
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PID: 10647163, COI: 1:STN:280:DC%2BD3c7htlClsg%3D%3D
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Durrani AA, Crawford AH, Chouhdry SN, et al.: Modulation of spinal deformities in patients with neurofibromatosis type 1. Spine 2000, 25:69–75. DOI: 10.1097/00007632-200001010-00013
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(2000)
Spine
, vol.25
, pp. 69-75
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Durrani, A.A.1
Crawford, A.H.2
Chouhdry, S.N.3
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27
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0033985640
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Pathology of bone lesions associated with congenital pseudarthrosis of the leg
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COI: 1:STN:280:DC%2BD3c7htlertQ%3D%3D
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Ippolito E, Corsi A, Grill F, et al.: Pathology of bone lesions associated with congenital pseudarthrosis of the leg. J Pediatr Orthop 2000, 9:3–10.
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(2000)
J Pediatr Orthop
, vol.9
, pp. 3-10
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Ippolito, E.1
Corsi, A.2
Grill, F.3
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28
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0032957290
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Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
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PID: 10360395, COI: 1:STN:280:DyaK1M3oslWnsg%3D%3D
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Stevenson DA, Birch PH, Friedman JM, et al.: Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 1999, 84:413–419. DOI: 10.1002/(SICI)1096-8628(19990611)84:5<413::AID-AJMG5>3.0.CO;2-1
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(1999)
Am J Med Genet
, vol.84
, pp. 413-419
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Stevenson, D.A.1
Birch, P.H.2
Friedman, J.M.3
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29
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0032784960
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Congenital pseudarthrosis of the tibia. Treatment and outcome at skeletal maturity in 10 children
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PID: 10429605, COI: 1:STN:280:DyaK1MzlvVagtA%3D%3D
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Heikkinen ES, Poyhonen MH, Kinnunen PK, Seppanen UI: Congenital pseudarthrosis of the tibia. Treatment and outcome at skeletal maturity in 10 children. Acta Orthop Scand 1999, 70:275–282. DOI: 10.3109/17453679908997807
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(1999)
Acta Orthop Scand
, vol.70
, pp. 275-282
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Heikkinen, E.S.1
Poyhonen, M.H.2
Kinnunen, P.K.3
Seppanen, U.I.4
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30
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0033910021
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How children with neurofibromatosis type 1 differ from “typical” learning disabled clinic attenders: nonverbal learning disabilities revisited
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PID: 10916573, COI: 1:STN:280:DC%2BD3czpsVaisg%3D%3D, This is a thorough and careful study of the characteristics of learning disabilities children with NF1
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Cutting LE, Koth CW, Denckla MB: How children with neurofibromatosis type 1 differ from “typical” learning disabled clinic attenders: nonverbal learning disabilities revisited. Dev Neuropsychol 2000, 17:29–47. This is a thorough and careful study of the characteristics of learning disabilities in children with NF1. DOI: 10.1207/S15326942DN1701_02
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(2000)
Dev Neuropsychol
, vol.17
, pp. 29-47
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Cutting, L.E.1
Koth, C.W.2
Denckla, M.B.3
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31
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0033505567
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Social and emotional problems in children with neurofibromatosis type 1: evidence and proposed interventions
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PID: 10356149, COI: 1:STN:280:DyaK1M3osVOjsA%3D%3D
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Johnson NS, Saal HM, Lovell AM, Schorry EK: Social and emotional problems in children with neurofibromatosis type 1: evidence and proposed interventions. J Pediatr 1999, 134:767–772. DOI: 10.1016/S0022-3476(99)70296-9
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(1999)
J Pediatr
, vol.134
, pp. 767-772
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Johnson, N.S.1
Saal, H.M.2
Lovell, A.M.3
Schorry, E.K.4
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32
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0344096547
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A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1
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PID: 10094241, COI: 1:STN:280:DyaK1M7pt1Smtg%3D%3D
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Zoller ME, Rembeck B: A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1. J Psychiatr Res 1999, 33:63–68. DOI: 10.1016/S0022-3956(98)00052-1
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(1999)
J Psychiatr Res
, vol.33
, pp. 63-68
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Zoller, M.E.1
Rembeck, B.2
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33
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0034087328
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Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1
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PID: 10757470, COI: 1:STN:280:DC%2BD3c3hvVeqtA%3D%3D
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Cutting LE, Koth CW, Burnette CP, et al.: Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1. J Child Neurol 2000, 15:157–160.
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(2000)
J Child Neurol
, vol.15
, pp. 157-160
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Cutting, L.E.1
Koth, C.W.2
Burnette, C.P.3
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34
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0034701055
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Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status
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PID: 10690986
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Moore BD III, Slopis JM, Jackson EF, et al.: Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status. Neurology 2000, 54:914–920.
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(2000)
Neurology
, vol.54
, pp. 914-920
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Moore, B.D.1
Slopis, J.M.2
Jackson, E.F.3
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35
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0034054727
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Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder
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PID: 10695893, COI: 1:STN:280:DC%2BD3c7lvVCnsg%3D%3D
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Kayl AE, Moore BD III, Slopis JM, et al.: Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. J Child Neurol 2000, 15:90–96.
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(2000)
J Child Neurol
, vol.15
, pp. 90-96
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Kayl, A.E.1
Moore, B.D.2
Slopis, J.M.3
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36
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0345410959
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Brain morphometric analysis in neurofibromatosis 1 [comment]
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PID: 10555653
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DiMario FJ Jr., Ramsby GR, Burleson JA: Brain morphometric analysis in neurofibromatosis 1 [comment]. Arch.Neurol 1999, 56:1343–1346. DOI: 10.1001/archneur.56.11.1343
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(1999)
Arch.Neurol
, vol.56
, pp. 1343-1346
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DiMario, F.J.1
Ramsby, G.R.2
Burleson, J.A.3
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37
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17144465165
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Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential
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PID: 10506274, COI: 1:STN:280:DyaK1Mvjs1Kntg%3D%3D
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Griffiths PD, Blaser S, Mukonoweshuro W, et al.: Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 1999, 104:e49. DOI: 10.1542/peds.104.4.e49
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(1999)
Pediatrics
, vol.104
, pp. e49
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Griffiths, P.D.1
Blaser, S.2
Mukonoweshuro, W.3
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38
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0033922008
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Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1
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PID: 10862051, COI: 1:CAS:528:DC%2BD3cXlsFSisL4%3D
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Rasmussen SA, Overman J, Thomson SA, et al.: Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1. Genes Chrom Cancer 2000, 28:425–431. DOI: 10.1002/1098-2264(200008)28:4<425::AID-GCC8>3.0.CO;2-E
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(2000)
Genes Chrom Cancer
, vol.28
, pp. 425-431
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Rasmussen, S.A.1
Overman, J.2
Thomson, S.A.3
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39
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0033927894
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Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1
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PID: 10677298, COI: 1:CAS:528:DC%2BD3cXitFyisLs%3D
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Eisenbarth I, Beyer K, Krone W, Assum G: Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. Am J Hum Genet 2000, 66:393–401. DOI: 10.1086/302747
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(2000)
Am J Hum Genet
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