Neurofibromatosis is a hereditary disorder characterized by neurofibromas (benign tumors of the nervous system). Symptoms include skin neurofibromas, café au lait spots, scoliosis, and hearing loss.
Café au lait spots | |
Neurofibromatosis is probaly the most common disease involving cafe-au-lait spots. |
1. |
Wang Q et al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. |
2. |
Bahuau M et al. (2001) GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. |
3. |
Ingram DA et al. (2000) Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. |
4. |
Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis. |
5. |
Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. |
6. |
Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). |
7. |
Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. |
8. |
De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. |
9. |
Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. |
10. |
Thiel C et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. |
11. |
Nyström AM et al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. |
12. |
Gutmann DH et al. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. |
13. |
Heim RA et al. (1994) Screening for truncated NF1 proteins. |
14. |
Upadhyaya M et al. (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. |
15. |
Silva AJ et al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I. |
16. |
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. |
17. |
Skuse GR et al. (1997) RNA processing and clinical variability in neurofibromatosis type I (NF1). |
18. |
Klose A et al. (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. |
19. |
Kluwe L et al. (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. |
20. |
Eisenbarth I et al. (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. |
21. |
Gutzmer R et al. (2000) Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. |
22. |
Gervasini C et al. (2002) Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region. |
23. |
Upadhyaya M et al. (2003) Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. |
24. |
Kluwe L et al. (2003) NF1 mutations and clinical spectrum in patients with spinal neurofibromas. |
25. |
Wiest V et al. (2003) Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. |
26. |
Ferner RE et al. (2004) Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). |
27. |
Ragge NK et al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. |
28. |
Kolanczyk M et al. (2007) Multiple roles for neurofibromin in skeletal development and growth. |
29. |
Henderson RA et al. (2007) Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. |
30. |
Reilly KM et al. (2000) Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. |
31. |
Quattrin T et al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome. |
32. |
None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. |
33. |
Abuelo DN et al. (1988) Neurofibromatosis with fully expressed Noonan syndrome. |
34. |
Opitz JM et al. (1985) The neurofibromatosis-Noonan syndrome. |
35. |
Jamieson CR et al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. |
36. |
Bahuau M et al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. |
37. |
Bahuau M et al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. |
38. |
Klopfenstein KJ et al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. |
39. |
Pearson-Webb MA et al. (1986) Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules. |
40. |
Krone W et al. (1986) Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas. |
41. |
Duncan AM et al. (1987) Neurofibromatosis in a man with a ring 22: in situ hybridization studies. |
42. |
Seizinger BR et al. (1987) Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. |
43. |
Martuza RL et al. (1988) Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). |
44. |
Wertelecki W et al. (1988) Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. |
45. |
Mrázek J et al. (1988) Diagnosis, size, and operation results in 41 acoustic neurinomas. |
46. |
Lee DK et al. (1969) Familial central nervous system neoplasia. Case report of a family with von Recklinghausen's neurofibromatosis. |
47. |
Young DF et al. (1970) Bilateral acoustic neuroma in a large kindred. |
48. |
None (1969) Acoustic neurinomas. Pathology and differential diagnosis. |
49. |
None (1968) Case reports and technical note. Familial bilateral acoustic neuroma affecting 14 members from four generations. Case report. |
50. |
Kanter WR et al. (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. |
51. |
None (1981) Central neurofibromatosis with bilateral acoustic neuroma. |
52. |
Martuza RL et al. (1982) Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. |
53. |
None (1995) Asbestos and mesothelioma: genetic lessons from a tragedy. |
54. |
Ragge NK et al. (1995) Ocular abnormalities in neurofibromatosis 2. |
55. |
Parry DM et al. (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. |
56. |
Watson CJ et al. (1993) A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. |
57. |
None (1994) National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. The Consensus Development Panel. |
58. |
Bouzas EA et al. (1993) Lens opacities in neurofibromatosis 2: further significant correlations. |
59. |
Rouleau GA et al. (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. |
60. |
Ruttledge MH et al. (1993) Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. |
61. |
Bouzas EA et al. (1993) Visual impairment in patients with neurofibromatosis 2. |
62. |
Parry DM et al. (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. |
63. |
Ruttledge MH et al. (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. |
64. |
Kehrer-Sawatzki H et al. (1997) Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. |
65. |
Evans DG et al. (1998) Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. |
66. |
Kondziolka D et al. (1998) Long-term outcomes after radiosurgery for acoustic neuromas. |
67. |
Pitts LH et al. (1998) Treatment of acoustic neuromas. |
68. |
Wu CL et al. (1998) Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. |
69. |
Evans DG et al. (1999) Paediatric presentation of type 2 neurofibromatosis. |
70. |
Kluwe L et al. (2000) Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. |
71. |
Egan RA et al. (2001) Monocular elevator paresis in neurofibromatosis type 2. |
72. |
Gijtenbeek JM et al. (2001) Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. |
73. |
Baser ME et al. (2001) Maternal gene effect in neurofibromatosis 2: fact or artefact? |
74. |
Mohyuddin A et al. (2002) Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. |
75. |
Baser ME et al. (2002) Neurofibromatosis 2 and malignant mesothelioma. |
76. |
Baser ME et al. (2002) Predictors of the risk of mortality in neurofibromatosis 2. |
77. |
Baser ME et al. (2002) Evaluation of clinical diagnostic criteria for neurofibromatosis 2. |
78. |
Bovie C et al. (2003) Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2). |
79. |
None (1964) ASSOCIATION OF BILATERAL 8TH NERVE TUMORS WITH MENINGIOMAS IN VON RECKLINGHAUSEN'S DISEASE. |
80. |
Baser ME et al. (2003) Genotype-phenotype correlations for cataracts in neurofibromatosis 2. |
81. |
Baser ME et al. (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. |
82. |
Tsilchorozidou T et al. (2004) Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. |
83. |
Baser ME et al. (2005) The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. |
85. |
McLaughlin ME et al. (2007) Ocular pathologic findings of neurofibromatosis type 2. |
86. |
Asthagiri AR et al. (2009) Neurofibromatosis type 2. |
87. |
Evans DG et al. (2009) An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). |
88. |
Feiling A et al. (1920) A FAMILIAL FORM OF ACOUSTIC TUMOUR. |
89. |
Baser ME et al. (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2. |
90. |
Stambolian D et al. (1988) Gene location in neurofibromatosis. |
91. |
Craddock GR et al. (1988) Neurofibromatosis and renal artery stenosis: a case of familial incidence. |
92. |
Fitzpatrick AP et al. (1988) Familial neurofibromatosis and hypertrophic cardiomyopathy. |
93. |
Samuelsson B et al. (1988) Relative fertility and mutation rate in neurofibromatosis. |
94. |
Dunn BG et al. (1985) A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis. |
95. |
None (1965) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. |
96. |
Schenkein I et al. (1974) Increased nerve-growth-stimulating activity in disseminated neurofibromatosis. |
97. |
Salyer WR et al. (1974) The vascular lesions of neurofibromatosis. |
98. |
Brunner H et al. (1974) Chronic mesenteric arterial insufficiency caused by vascular neurofibromatosis. A case report. |
99. |
Rosenquist GC et al. (1970) Acquired right ventricular outflow obstruction in a child with neurofibromatosis. |
100. |
Hochberg FH et al. (1974) Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. |
101. |
Knight WA et al. (1973) Neurofibromatosis associated with malignant neurofibromas. |
102. |
Massaro D et al. (1966) Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis. |
103. |
Grant WM et al. (1968) Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. |
105. |
Benedict PH et al. (1968) Melanotic macules in Albright's syndrome and in neurofibromatosis. |
106. |
Miles J et al. (1969) Intrathoracic meningocele. Its development and association with neurofibromatosis. |
107. |
Fienman NL et al. (1970) Neurofibromatosis in childhood. |
108. |
Buntin PT et al. (1970) Gastrointestinal neurofibromatosis. A rare cause of chronic anemia. |
109. |
Wallis K et al. (1970) Hypertension in a case of von Recklinghausen's neurofibromatosis. |
110. |
Boudin G et al. (1970) [Multiple tumours of the nervous system in Recklinghausen's disease. An anatomo-clinical case with chromophobe adenoma of the pituitary gland]. |
111. |
Charron JW et al. (1970) Neurofibromatosis of bladder: case report and review of literature. |
112. |
Johnson BL et al. (1970) Café au lait spot in neurofibromatosis and in normal individuals. |
113. |
Allan TN et al. (1970) Neurofibromatosis of the renal artery. |
114. |
Fialkow PJ et al. (1971) Multiple cell origin of hereditary neurofibromas. |
115. |
Newman A et al. (1971) Bilateral neurofibroma of the intrathoracic vagus associated with von Recklinghausen's disease. |
116. |
Izumi AK et al. (1971) Von Recklinghausen's disease associated with multiple neurolemomas. |
117. |
Smith CJ et al. (1970) Renal artery dysplasia as a cause of hypertension in neurofibromatosis. |
118. |
Bidot-Lopez P et al. () Enhanced viral transformation of skin fibroblasts from neurofibromatosis patients. |
119. |
Horwich A et al. (1983) Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis. |
120. |
Voutsinas S et al. (1983) The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. |
121. |
None () Von Recklinghausen's vasculopathy. |
122. |
Riccardi VM et al. (1984) The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. |
123. |
Satran L et al. (1980) Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. |
124. |
Pellock JM et al. (1980) Childhood hypertensive stroke with neurofibromatosis. |
125. |
Erickson RP et al. (1980) Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis. |
126. |
Stanley JC et al. (1981) Pediatric renal artery occlusive disease and renovascular hypertension. Etiology, diagnosis, and operative treatment. |
127. |
Fabricant RN et al. (1981) Increased serum levels of nerve growth factor in von Recklinghausen's disease. |
128. |
None (1981) Von Recklinghausen neurofibromatosis. |
129. |
Kaplan J et al. (1982) Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. |
130. |
Clark RD et al. (1982) Familial neurofibromatosis and juvenile chronic myelogenous leukemia. |
131. |
Rockower S et al. (1982) Dislocation of the spine in neurofibromatosis. A report of two cases. |
132. |
Kalff V et al. (1982) The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis. |
133. |
Perry HD et al. (1982) Iris nodules in von Recklinghausen's Neurofibromatosis. Electron microscopic confirmation of their melanocytic origin. |
134. |
Friedman JM et al. (1982) Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis. |
135. |
None (1982) Neurofibromatosis: clinical heterogeneity. |
136. |
Listernick R et al. (1995) Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. |
137. |
Molloy PT et al. (1995) Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. |
138. |
Wolkenstein P et al. (1995) More on the frequency of segmental neurofibromatosis. |
139. |
Legius E et al. (1995) Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence. |
140. |
Parazzini C et al. (1995) Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation. |
141. |
Colman SD et al. (1995) Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. |
142. |
Eichhorn C et al. (1995) Dural ectasia in von Recklinghausen's disease of the lumbar spine: a case report. |
143. |
Ingordo V et al. (1995) Segmental neurofibromatosis: is it uncommon or underdiagnosed? |
144. |
Heim RA et al. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. |
145. |
Sutphen R et al. (1995) Clitoromegaly in neurofibromatosis. |
146. |
Garty BZ et al. (1994) Neurofibromatosis type 1 in Israel: survey of young adults. |
147. |
None (1994) Intracranial fusiform aneurysms in von Recklinghausen's disease: case report and literature review. |
148. |
Lázaro C et al. (1994) Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. |
149. |
Listernick R et al. (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. |
150. |
Kayes LM et al. (1994) Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. |
151. |
Hofman KJ et al. (1994) Neurofibromatosis type 1: the cognitive phenotype. |
152. |
Lehrnbecher T et al. (1994) Neurofibromatosis presenting as a severe systemic vasculopathy. |
153. |
Kurotaki H et al. (1993) Multiple papillary adenomas of type II pneumocytes found in a 13-year-old boy with von Recklinghausen's disease. |
154. |
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. |
155. |
Ragge NK et al. (1993) Images of Lisch nodules across the spectrum. |
156. |
Easton DF et al. (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. |
157. |
Friedman JM et al. (1993) National Neurofibromatosis Foundation International Database. |
158. |
Legius E et al. (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. |
159. |
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. |
160. |
Upadhyaya M et al. (1995) Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. |
161. |
Leppig KA et al. (1996) The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. |
162. |
Colman SD et al. (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. |
164. |
Barrall JL et al. () Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. |
165. |
Sawada S et al. (1996) Identification of NF1 mutations in both alleles of a dermal neurofibroma. |
166. |
Hünerbein M et al. (1996) Biliary obstruction caused by a multifocal duodenal neurosarcoma in a patient with von Recklinghausen's disease. |
167. |
Nopajaroonsri C et al. (1996) Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1. |
168. |
Shen MH et al. (1996) Molecular genetics of neurofibromatosis type 1 (NF1). |
169. |
Abeliovich D et al. (1995) Familial café au lait spots: a variant of neurofibromatosis type 1. |
170. |
Dugoff L et al. (1996) Neurofibromatosis type 1 and pregnancy. |
171. |
None (1997) Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma. |
172. |
Friedman JM et al. (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. |
173. |
Serra E et al. (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. |
175. |
Park VM et al. (1998) Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. |
176. |
Cook DL et al. (1998) Modeling stochastic gene expression: implications for haploinsufficiency. |
177. |
McGaughran JM et al. (1999) A clinical study of type 1 neurofibromatosis in north west England. |
178. |
Stevenson DA et al. (1999) Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. |
179. |
Chu MH et al. (1999) Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis. |
180. |
Gutmann DH et al. (1999) Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation. |
181. |
Mukonoweshuro W et al. (1999) Neurofibromatosis type 1: the role of neuroradiology. |
182. |
Clementi M et al. (1999) Neurofibromatosis type 1 growth charts. |
183. |
Cichowski K et al. (1999) Mouse models of tumor development in neurofibromatosis type 1. |
184. |
Vogel KS et al. (1999) Mouse tumor model for neurofibromatosis type 1. |
185. |
John AM et al. (2000) A search for evidence of somatic mutations in the NF1 gene. |
186. |
Koivunen J et al. (2000) New function for NF1 tumor suppressor. |
187. |
DeBella K et al. (2000) Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. |
188. |
Yamauchi T et al. (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. |
189. |
Rutkowski JL et al. (2000) Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. |
190. |
Waggoner DJ et al. (2000) Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. |
191. |
None (2000) Parents' responses to their child's diagnosis of neurofibromatosis 1. |
192. |
Tinschert S et al. (2000) Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. |
193. |
King AA et al. (2000) Malignant peripheral nerve sheath tumors in neurofibromatosis 1. |
194. |
Poyhonen M et al. (2000) Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. |
195. |
Yasunari T et al. (2000) Frequency of choroidal abnormalities in neurofibromatosis type 1. |
196. |
Lin AE et al. (2000) Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. |
197. |
Szudek J et al. (2000) Growth in North American white children with neurofibromatosis 1 (NF1). |
198. |
Serra E et al. (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. |
199. |
Hamilton SJ et al. (2000) Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. |
200. |
None (2000) The vasculopathy of NF1 and histogenesis control genes. |
201. |
Otsuka F et al. (2001) Lisch nodules and skin manifestation in neurofibromatosis type 1. |
202. |
Costa RM et al. (2001) Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. |
203. |
Rasmussen SA et al. (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. |
204. |
Balcer LJ et al. (2001) Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. |
205. |
Parsa CF et al. (2001) Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging. |
206. |
Hamilton SJ et al. (2001) Cardiac findings in an individual with neurofibromatosis 1 and sudden death. |
207. |
Serra E et al. (2001) Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. |
208. |
Leroy K et al. (2001) Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. |
209. |
Gutmann DH et al. (2001) Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. |
210. |
Costa RM et al. (2002) Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. |
211. |
Sperfeld AD et al. (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. |
212. |
Zhu Y et al. (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment. |
213. |
Evans DG et al. (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1. |
214. |
Singhal S et al. (2002) Neurofibromatosis type 1 and sporadic optic gliomas. |
215. |
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216. |
Kemkemer R et al. (2002) Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro. |
217. |
Rosser T et al. (2002) Neurofibromas in children with neurofibromatosis 1. |
218. |
Gitler AD et al. (2003) Nf1 has an essential role in endothelial cells. |
219. |
Khosrotehrani K et al. (2003) Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients. |
220. |
Szudek J et al. (2003) Patterns of associations of clinical features in neurofibromatosis 1 (NF1). |
221. |
Ruggieri M et al. (2003) From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis? |
222. |
Schrimsher GW et al. (2003) Visual-spatial performance deficits in children with neurofibromatosis type-1. |
223. |
None (1952) Rickets and osteomalacia from renal tubule defects. |
224. |
None (1953) Familial fibromatosis of small intestine. |
226. |
MANLEY KA et al. (1961) Some heritable causes of gastrointestinal disease. Special reference to hemorrhage. |
228. |
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229. |
None (1964) AXILLARY FRECKLING AS A DIAGNOSTIC AID IN NEUROFIBROMATOSIS. |
230. |
None (1961) [Hereditary neurofibromatosis with a wide phenotypic spectrum (the family Sn.)]. |
231. |
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Orphanet article Orphanet ID 637 |
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Wikipedia article Wikipedia EN (Neurofibromatosis) |