Neurofibromatosis 1 (Von Recklinghausen disease) is an autosomal dominant disorder caused by mutations of the NF1 gene. It is characterized by cafe-au-lait spots, iris hamartoma, axillary and inguinal freckling, and multiple cutaneous neurofibromas.
Neurofibromatosis | ||||
Familial spinal neurofibromatosis | ||||
Legius syndrome | ||||
Neurofibromatosis 1 | ||||
NF1 | ||||
Neurofibromatosis-Noonan syndrome | ||||
Noonan syndrome 6 | ||||
Watson syndrome | ||||
1. |
Wang Q et al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. |
2. |
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3. |
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4. |
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1. |
5. |
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6. |
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7. |
Heim RA et al. (1994) Screening for truncated NF1 proteins. |
8. |
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9. |
Silva AJ et al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I. |
10. |
Side L et al. (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. |
11. |
Skuse GR et al. (1997) RNA processing and clinical variability in neurofibromatosis type I (NF1). |
12. |
Klose A et al. (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. |
13. |
Kluwe L et al. (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. |
14. |
Eisenbarth I et al. (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. |
15. |
Gutzmer R et al. (2000) Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. |
16. |
Gervasini C et al. (2002) Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region. |
17. |
Upadhyaya M et al. (2003) Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. |
18. |
Kluwe L et al. (2003) NF1 mutations and clinical spectrum in patients with spinal neurofibromas. |
19. |
Wiest V et al. (2003) Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. |
20. |
Ferner RE et al. (2004) Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). |
21. |
Ragge NK et al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. |
22. |
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23. |
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24. |
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25. |
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26. |
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27. |
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28. |
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29. |
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30. |
Pulst SM et al. (1990) The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. |
31. |
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32. |
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34. |
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35. |
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36. |
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37. |
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38. |
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39. |
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40. |
None (1965) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. |
41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
Grant WM et al. (1968) Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. |
50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
Allan TN et al. (1970) Neurofibromatosis of the renal artery. |
59. |
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60. |
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61. |
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62. |
Smith CJ et al. (1970) Renal artery dysplasia as a cause of hypertension in neurofibromatosis. |
63. |
Bidot-Lopez P et al. () Enhanced viral transformation of skin fibroblasts from neurofibromatosis patients. |
64. |
Horwich A et al. (1983) Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis. |
65. |
Voutsinas S et al. (1983) The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. |
66. |
None () Von Recklinghausen's vasculopathy. |
67. |
Riccardi VM et al. (1984) The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. |
68. |
Satran L et al. (1980) Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. |
69. |
Pellock JM et al. (1980) Childhood hypertensive stroke with neurofibromatosis. |
70. |
Erickson RP et al. (1980) Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis. |
71. |
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72. |
Fabricant RN et al. (1981) Increased serum levels of nerve growth factor in von Recklinghausen's disease. |
73. |
None (1981) Von Recklinghausen neurofibromatosis. |
74. |
Kaplan J et al. (1982) Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. |
75. |
Clark RD et al. (1982) Familial neurofibromatosis and juvenile chronic myelogenous leukemia. |
76. |
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77. |
Kalff V et al. (1982) The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis. |
78. |
Perry HD et al. (1982) Iris nodules in von Recklinghausen's Neurofibromatosis. Electron microscopic confirmation of their melanocytic origin. |
79. |
Friedman JM et al. (1982) Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis. |
80. |
None (1982) Neurofibromatosis: clinical heterogeneity. |
81. |
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82. |
Molloy PT et al. (1995) Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. |
83. |
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84. |
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85. |
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86. |
Colman SD et al. (1995) Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. |
87. |
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88. |
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89. |
Heim RA et al. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. |
90. |
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91. |
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92. |
None (1994) Intracranial fusiform aneurysms in von Recklinghausen's disease: case report and literature review. |
93. |
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94. |
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95. |
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96. |
Hofman KJ et al. (1994) Neurofibromatosis type 1: the cognitive phenotype. |
97. |
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98. |
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99. |
Shannon KM et al. (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. |
100. |
Ragge NK et al. (1993) Images of Lisch nodules across the spectrum. |
101. |
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102. |
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103. |
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104. |
Stark M et al. (1995) Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene. |
105. |
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106. |
Leppig KA et al. (1996) The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. |
107. |
Colman SD et al. (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. |
109. |
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110. |
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111. |
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112. |
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113. |
Shen MH et al. (1996) Molecular genetics of neurofibromatosis type 1 (NF1). |
114. |
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115. |
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116. |
None (1997) Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma. |
117. |
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118. |
Serra E et al. (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. |
120. |
Park VM et al. (1998) Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. |
121. |
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123. |
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124. |
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125. |
Gutmann DH et al. (1999) Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation. |
126. |
Mukonoweshuro W et al. (1999) Neurofibromatosis type 1: the role of neuroradiology. |
127. |
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128. |
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129. |
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130. |
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131. |
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134. |
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135. |
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None (2000) Parents' responses to their child's diagnosis of neurofibromatosis 1. |
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