Neurofibromatosis 1

Rubinstein, 1988, Pathological features of optic nerve and chiasmatic gliomas, Neurofibromatosis, 1, 152

Hecht, 1989, Recognition of neurofibromatosis before von Recklinghausen, Neurofibromatosis, 2, 180

Von Recklinghausen, 1982

Crowe, 1956

Lisch, 1937, Ueber beteiligung der augen, insbesondere das vorkommen von irisknotchen bei der neurofibromatose (Recklinghausen), Augenheilkde, 93, 137

NIH Consensus Development Conference, 1988, Neurofibromatosis conference statement, Arch Neurol, 45, 575, 10.1001/archneur.1988.00520290115023

Sergeyev, 1975, On the mutation rate of neurofibromatosis, Hum Genet, 28, 129, 10.1007/BF00735745

Samuelsson, 1981, Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg Sweden, Acta Derm Venereol Suppl (Stockh), 95, 67

Huson, 1989, A genetic study of von Recklinghausen's neurofibromatosis in south east Wales, J Med Genet, 26, 704, 10.1136/jmg.26.11.704

Riccardi, 1986

Burwell, 1982, Café au lait spots in school children, Arch Dis Child, 57, 631, 10.1136/adc.57.8.631

Benedict, 1968, Melanotic macules in Albright's syndrome and in neurofibromatosis, JAMA, 205, 618, 10.1001/jama.205.9.618

Crowe, 1964, Axillary freckling as a diagnostic aid in neurofibromatosis, Ann Intern Med, 61, 1142, 10.7326/0003-4819-61-6-1142

Lewis, 1981, von Recklinghausen neurofibromatosis: Incidence of iris harmartomata, Ophthalmology, 88, 348, 10.1016/S0161-6420(81)35034-9

Lubs, 1991, Lisch nodules in neurofibromatosis type 1, N Engl J Med, 324, 1264, 10.1056/NEJM199105023241807

Friedman, 1999

Korf, 1999, Plexiform neurofibromas, Am J Med Genet, 89, 31, 10.1002/(SICI)1096-8628(19990326)89:1<31::AID-AJMG7>3.0.CO;2-W

Korf, 2000, Malignancy in neurofibromatosis type 1, Oncologist, 5, 477, 10.1634/theoncologist.5-6-477

Thakkar, 1999, Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety, Neuroradiology, 41, 625, 10.1007/s002340050814

Waggoner, 2000, A clinic-based study of plexiform neurofibromas in neurofibromatosis 1, Am J Med Genet, 92, 132, 10.1002/(SICI)1096-8628(20000515)92:2<132::AID-AJMG10>3.0.CO;2-6

Huson, 1988, von Recklinghausen neurofibromatosis: A clinical and population study in south east Wales, Brain, 111, 1355, 10.1093/brain/111.6.1355

King, 2000, Malignant peripheral nerve sheath tumors in neurofibromatosis 1, Am J Med Genet, 93, 388, 10.1002/1096-8628(20000828)93:5<388::AID-AJMG8>3.0.CO;2-#

Ferner, 2000, Evaluation of 18-fluorodeoxyglucose positron emission tomography (13-FDG PET) in the detection of malignant peripheral nerve sheath tumors arising from within plexiform neurofibromas in neurofibromatosis 1, J Neurol Neurosurg Psychiatry, 68, 353, 10.1136/jnnp.68.3.353

Thomas, 1983, Neurogenic tumors of the sciatic nerve: A clinicopathologic study of 35 cases, Mayo Clin Proc, 58, 640

Listernick, 1997, Optic pathway gliomas in children with neurofibromatosis 1: Consensus Statement from the NF1 Optic Pathway Glioma Task Force, Ann Neurol, 41, 143, 10.1002/ana.410410204

Russell, 1989

Stern, 1979, Neurofibromatosis and optic glioma: clinical and morphological correlations, Neurosurgery, 4, 524, 10.1227/00006123-197906000-00006

Stern, 1980, The architecture of optic nerve gliomas with and without neurofibromatosis, Arch Ophthalmol, 98, 505, 10.1001/archopht.1980.01020030501014

Listernick, 1994, Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study, J Pediatr, 125, 63, 10.1016/S0022-3476(94)70122-9

Listernick, 1989, Optic Gliomas in children with neurofibromatosis type 1, J Pediatr, 114, 788, 10.1016/S0022-3476(89)80137-4

Lewis, 1984, von Recklinghausen neurofibromatosis, Ophthalmology, 91, 929, 10.1016/S0161-6420(84)34217-8

Habiby, 1995, Precocious puberty in children with neurofibromatosis type 1, J Pediatr, 126, 364, 10.1016/S0022-3476(95)70449-3

Friedman, 1992, Treatment of children with progressive or recurrent brain tumors with carboplatin or iproplatin: a Pediatric Oncology Group randomized phase II study, J Clin Oncol, 10, 249, 10.1200/JCO.1992.10.2.249

Packer, 1992, Carboplatinum and vincristine for progressive low grade gliomas of childhood, J Clin Oncol, 11, 850, 10.1200/JCO.1993.11.5.850

Blatt, 1986, Neurofibromatosis and childhood tumors, Cancer, 57, 1225, 10.1002/1097-0142(19860315)57:6<1225::AID-CNCR2820570627>3.0.CO;2-P

Rasmussen, 2001, Mortality in neurofibromatosis 1: an analysis using US death certificates, Am J Human Genet, 68, 1110, 10.1086/320121

Gutmann, 1999, Other Malignancies

Fernandez-Calvet, 1994, Incidence of pheochromocytoma in South Galicia. Spain, J Int Med, 236, 675, 10.1111/j.1365-2796.1994.tb00861.x

Kalff, 1982, The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis, Arch Int Med, 142, 2092, 10.1001/archinte.142.12.2092

Schlumberger, 1992, Malignant pheochromocytoma: Clinical, biological, histologic and therapeutic data in a series of 20 patients with distant metastases, J Endocrinol Invest, 15, 631, 10.1007/BF03345807

Side, 1998, Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis type 1, Blood, 92, 267, 10.1182/blood.V92.1.267.413a31_267_272

North, 1994, Learning difficulties in neurofibromatosis type 1: the significance of MRI abnormalities, Neurology, 44, 878, 10.1212/WNL.44.5.878

Denckla, 1996, Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1, Am J Med Genet, 67, 98, 10.1002/(SICI)1096-8628(19960216)67:1<98::AID-AJMG17>3.0.CO;2-K

North, 1995, Cognitive function and academic perfomance in children with neurofibromatosis type 1, Dev Med Child Neurol, 37, 427, 10.1111/j.1469-8749.1995.tb12026.x

Hofman, 1994, Neurofibromatosis type 1: the cognitive phenotype, J Pediatr, 124, S1, 10.1016/S0022-3476(05)83163-4

Legius, 1994, Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children, Genet Couns, 5, 51

Mazzocco, 1995, Language and reading deficits associated with neurofibromatosis type 1: evidence for not-so-nonverbal learning disability, Dev Neuropsych, 11, 503, 10.1080/87565649509540634

Mott S, Kkryja PB, Baumgarner T, et al. Neurofibromatosis type 1 (NF1): association between volumes of T2-weighted high intensity signals (UBOs) on magnetic resonance imaging (MRI) and impaired performance on the judgment of line orientation (JLO). Presented at the conjoint meeting of the CNS and ICNA, October 2–8, 1994, San Francisco, CA.

Eldridge, 1989, Neurofibromatosis type I (von Recklinghausen's disease): neurologic and cognitive assessment with sibling controls, Am J Dis Child, 143, 833, 10.1001/archpedi.1989.02150190083027

Eliason, 1986, Neurofibromatosis: implications for learning and behavior, J Dev Behav Pediatr, 7, 175, 10.1097/00004703-198606000-00009

Joy, 1995, Neuropsychological function and MRI abnormalities in Neurofibromatosis type 1, Dev Med Child Neurol, 37, 906, 10.1111/j.1469-8749.1995.tb11943.x

Aoki, 1989, Neurofibromatosis types 1 and 2: cranial MR findings, Radiology, 172, 527, 10.1148/radiology.172.2.2501822

Bognanno, 1988, Cranial MR imaging in neurofibromatosis, Am J Neuroradiol, 9, 381

Dimario, 1993, Neurofibromatosis type 1: magnetic resonance imaging findings, J Child Neurol, 8, 32, 10.1177/088307389300800105

Duffner, 1989, The significance of MRI abnormalities in children with neurofibromatosis, Neurology, 39, 373, 10.1212/WNL.39.3.373

Dunn, 1989, MRI evaluation of learning difficulties and incoordination in neurofibromatosis type 1, Neurofibromatosis, 2, 1

Itoh, 1994, Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities, Am J Neuroradiol, 15, 1513

Sevick, 1992, Evolution of white matter lesions in neurofibromatosis type 1: MR findings, Am J Radiol, 159, 171

Legius, 1995, Neurofibromatosis type 1 in childhood: correlation with MRI findings with intelligence, J Neurol Neurosurg Psychiatry, 59, 638, 10.1136/jnnp.59.6.638

Moore, 1996, Neuropsychological significance of areas of high signal intensity on brain magnetic resonance imaging scans of children with Neurofibromatosis, Neurology, 46, 1660, 10.1212/WNL.46.6.1660

Gutmann, 1997, The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2, JAMA, 278, 51, 10.1001/jama.278.1.51

Huson, 1989, Recent developments in the diagnosis and management of neurofibromatosis, Arch Dis Child, 64, 745, 10.1136/adc.64.5.745

Holt, 1978, Neurofibromatosis in children, Am J Roentgenol, 130, 615, 10.2214/ajr.130.4.615

Ruggieri, 2001, The clinical and diagnostic implications of mosaicism in the neurofibromatoses, Neurology, 56, 1433, 10.1212/WNL.56.11.1433

Hall, 1988, Review and hypotheses: somatic mosaicism: observations related to clinical genetics, Am J Hum Genet, 43, 355

Happle, 2000, Principles of genetics, mosaicism and molecular biology, Vol. 2, 1037

Zlotogora, 1998, Germ line mosaicism, Hum Genet, 102, 381, 10.1007/s004390050708

Allanson, 1991, Watson Syndrome, Is it a subtype of type 1 NF?, J Med Genet, 28, 752, 10.1136/jmg.28.11.752

Stern, 1992, Clinical reliability of type 1 neurofibromatosis: Is there a NF-Noonan Syndrome?, J Med Genet, 29, 184, 10.1136/jmg.29.3.184

Preiser, 1918, Multiple neurofibromatosis (von Recklinghausen disease) and its inheritance, Am J Med Sci, 156, 507, 10.1097/00000441-191810000-00004

Hall, 1981, Possible maternal and hormonal factors in neurofibromatosis, Adv Neurol, 29, 125

Easton, 1993, An analysis of variation in expression of neurofibromatosis (NF) type (NF1): Evidence for modifying genes, Am J Hum Genet, 53, 305

Cawthon, 1990, A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations, Cell, 62, 193, 10.1016/0092-8674(90)90253-B

Wallace, 1990, Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients, Science, 249, 181, 10.1126/science.2134734

Xu, 1990, The neurofibromatosis type 1 gene encodes a protein related to GAP, Cell, 62, 599, 10.1016/0092-8674(90)90024-9

Daston, 1992, The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells and oligodendrocytes, Neuron, 8, 415, 10.1016/0896-6273(92)90270-N

DeClue, 1991, Identification and characterization of the neurofibromatosis type 1 gene product, Proc Natl Acad Sci USA, 88, 9914, 10.1073/pnas.88.22.9914

Gutmann, 1991, Identification of the neurofibromatosis type 1 gene product, Proc Natl Acad Sci USA, 88, 9658, 10.1073/pnas.88.21.9658

Nordlund, 1993, Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons, J Neurosci, 13, 1588, 10.1523/JNEUROSCI.13-04-01588.1993

Bollag, 1991, Regulators and effectors of ras proteins, Ann Rev Cell Biol, 7, 601, 10.1146/annurev.cb.07.110191.003125

Marshall, 1991, How does p21ras transform cells?, Trends Genet, 7, 91, 10.1016/0168-9525(91)90278-X

Martin, 1990, The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21, Cell, 63, 843, 10.1016/0092-8674(90)90150-D

Wigler, 1990, GAPs in understanding ras, Nature, 346, 696, 10.1038/346696a0

Adari, 1988, Guanosine triphosphatase activating protein (GAP) interacts with the p21 ras effector binding domain, Science, 240, 518, 10.1126/science.2833817

Trahey, 1988, Molecular cloning of two types of GAP complementary DNA from human placenta, Science, 242, 1697, 10.1126/science.3201259

Knudson, 1985, Hereditary cancer, oncogenes, and antioncogenes, Cancer Res, 45, 1437

Knudson, 1971, Mutation and Cancer: Statistical study of retinoblastoma, Proc Natl Acad Sci USA, 68, 820, 10.1073/pnas.68.4.820

Basu, 1992, Aberrant regulation of ras proteins in tumour cells from type 1 neurofibromatosis patients, Nature, 356, 713, 10.1038/356713a0

DeClue, 1992, Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis, Cell, 69, 265, 10.1016/0092-8674(92)90407-4

Lau, 2000, Loss of neurofibromin is associated with activation of ras/MAPK and PIS-K/akt signaling in a neurofibromatosis 1 astrocytoma, J Neuropath Exp Neurol, 59, 759, 10.1093/jnen/59.9.759

Kourea, 1999, Expression of p27-Kip and other cell cycle regulators in malignant peripheral nerve sheath tumors and neurofibromas: The emerging role of p27-Kip in malignant transformation of neurofibromas, Am J Pathol, 155, 1885, 10.1016/S0002-9440(10)65508-3

Koureau, 1999, Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas, Am J Pathol, 155, 1855, 10.1016/S0002-9440(10)65504-6

Menon, 1990, Chromosome 17p deletions and p53 gene mutation associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis, Proc Natl Acad Sci USA, 87, 5435, 10.1073/pnas.87.14.5435

Nielsen, 1999, Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation, Am J Pathol, 155, 1879, 10.1016/S0002-9440(10)65507-1

Reilly, 2000, Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects, Nat Genet, 26, 109, 10.1038/79075

Vogel, 1999, Mouse tumor model for neurofibromatosis type 1, Science, 286, 2176, 10.1126/science.286.5447.2176

Hewett, 1995, Increased expression of the neurofibromatosis (NF1) tumor suppressor gene protein, neurofibromin, in reactive astrocytes in vitro, Neuroreport, 6, 1565, 10.1097/00001756-199507310-00025

Gutmann, 2000, Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas, Neuropath Exp Neurobiol, 26, 361, 10.1046/j.1365-2990.2000.00258.x

Platten, 1996, Upregulation of specific NF1 gene transcripts in sporadic pilocytic astrocytomas, Am J Pathol, 149, 621

Bajenaru, 2001, Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes, Glia, 33, 314, 10.1002/1098-1136(20010315)33:4<314::AID-GLIA1030>3.0.CO;2-Q

Gutmann, 1999, Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation, Oncogene, 18, 4450, 10.1038/sj.onc.1202829

Chen, 1991, Cloning and expression of a cDNA encoding the alpha subunit of rat p21ras protein farnesyltransferase, Proc Natl Acad Sci USA, 88, 11368, 10.1073/pnas.88.24.11368

Kinsella, 1991, Posttranslational modification of Ha-ras p21 by farnesyl versus geranylgeranyl isoprenoids is determined by the COOH-terminal amino acid, Proc Natl Acad Sci USA, 88, 8934, 10.1073/pnas.88.20.8934

Zanca, 1980, Antique illustrations of neurofibromatosis, Int J Dermatol, 19, 55, 10.1111/j.1365-4362.1980.tb01998.x