Neurofibromatosis type 2

Journal of Medical Genetics

Volumn 37, Issue 12, 2000, Pages 897-904

  Evans, D G R ^a   Sainio, M ^b   Baser, M E ^c  

^a ST MARY S HOSPITAL   (United Kingdom)

^b FINNISH INSTITUTE OF OCCUPATIONAL HEALTH   (Finland)

^c NONE

Author keywords

Meningioma; Mosaic; NF2; Vestibular schwannomma

Indexed keywords

GENE PRODUCT; MERLIN;

ALLELE; AUTOSOMAL DOMINANT DISORDER; CELL ADHESION; CELL MIGRATION; CELL PROLIFERATION; COCHLEAR NERVE; CYTOSKELETON; EPENDYMOMA; GENE MUTATION; HUMAN; MENINGIOMA; MORBIDITY; MOSAICISM; NEURILEMOMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVIEW; TREATMENT OUTCOME;

FALCO COLUMBARIUS;

EID: 0034537145     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.12.897     Document Type: Review

References (88)

1. Case of tumours in the skull, dura mater, and brain
2. Bilateral acoustic neurofibromas: A clinical study and field survey of a family of five generations with bilateral deafness in thirty eight members
3. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene
4. Genetic linkage analysis of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
5. National Institutes of Health Consensus Development Conference Statement on Neurofibromatosis
6. Neurofibromatosis type 2 appears to be a genetically homogenous disease
7. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
8. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
9. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
10. Population based analysis of sporadic and NF2-associated meningiomas and schwannomas
11. Central neurofibromatosis with bilateral acoustic neuroma. Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis
12. A clinical study of type 2 neurofibromatosis
13. A familial form of acoustic tumour
14. Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2)
15. Mosaicism in classical neurofibromatosis type 2: A common mechanism for sporadic disease in tumor prone syndromes?
16. Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
17. The neuroimaging and clinical spectrum of neurofibromatosis 2
18. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling
19. Paediatric presentation of type 2 neurofibromatosis
20. Neurofibromatosis 2 in the pediatric age group
21. Lack of sex-ratio distortion in NF2
22. Skin abnormalities in neurofibromatosis 2
23. Neurofibromatous neuropathy
24. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2
25. Ocular abnormalities in neurofibromatosis 2
26. Visual impairment in patients with neurofibromatosis 2
27. Bilateral acoustic neuromas: Clinical aspects, pathogenesis and treatment
28. Vestibular (acoustic) schwannomas: Histological features in neurofibromatosis 2 and in unilateral cases
29. Type 2 neurofibromatosis: The need for supraregional care?
30. Hearing preservation in neurofibromatosis type 2
31. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety
32. Acoustic tumor growth: Implications for treatment choices
33. The natural history of neurofibromatosis 2
34. The diagnostic and multi-disciplinary management of neurofibromatosis 1 and neurofibromatosis 2
35. Malignant peripheral nerve sheath tumors, radiotherapy, and neurofibromatosis 2
36. A clinical study of type 1 neurofibromatosis in north west England
37. Benign spinal nerve sheath tumours. Their occurrence sporadically and in neurofibromatosis types 1 and 2
38. Von Recklinghausen neurofibromatosis: A clinical and population based study in south east Wales
39. Proliferation potential and histological features in neurofibromatosis 2-associated and sporadic meningiomas
40. The probability of bilateral disease in individuals presenting with a unilateral vestibular schwannoma
41. Cytological and cytogenetic studies on human meningioma
42. Analysis of chromosome 22 deletions in neurofibromatosis related tumours
43. A molecular, clinical and immunohistochemical study of vestibular schwannoma
44. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
45. A germinal interstitial deletion maps the locus for type 2 neurofibromatosis to the interval between D22S56 and LIF (leukaemia inhibitory factor)
46. Mutational analysis of patients with neurofibromatosis 2
47. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene
48. Screening for germline mutations in the NF2 gene
49. Diagnostic issues in a family with late onset type 2 neurofibromatosis
50. Identification of NF2 germline mutations and comparison with neurofibromatosis 2 phenotypes
51. Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
52. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
53. Genotype/phenotype correlations in type 2 neurofibromatosis: Evidence for more severe disease with truncating mutations
54. Phenotypic variability associated with 14 splice site mutations in the NF2 gene
55. Germ-line NF2 mutation type, location, and phenotype in neurofibromatosis 2
56. A mutation in the neurofibromatosis type 2 tumour suppressor gene giving rise to widely different clinical phenotypes in two unrelated individuals
57. Misleading linkage results in an NF2 presymptomatic test due to mosaicism
58. Mosaicism in sporadic neurofibromatosis 2 patients
59. NF2 gene in neurofibromatosis type 2 patients
60. High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
61. Long-term outcomes after radiosurgery for acoustic neuroma
62. Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers
63. Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations
64. Uptake of genetic testing for cancer predisposition
65. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis
66. Molecular analysis of the NF2 tumor suppressor in schwannomatosis
67. Neurofibromatosis 2 and neurilemmomatosis gene are identical
68. Acoustic neuroma in the last months of pregnancy
69. Variation in expression of the gene for type 2 neurofibromatosis: Absence of a gender effect on vestibular schwannoma
70. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
71. Phenotypic variability in monozygotic twins with neurofibromatosis 2
72. Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton
73. The merlin tumor suppressor localizes preferentially in membrane ruffles
74. Merlin differentially associates with the microtubule and actin cytoskeleton
75. Defects in neurofibromatosis 2 protein function can arise at multiple levels
76. Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesion and spreading
77. Homotypic and heterotypic interaction of the neurofibromatosis 2 tumor suppressor protein merlin and the ERM protein ezrin
78. Cortical actin organization: Lessons from ERM (ezrin/radixin/moesin) proteins
79. Ezrin regulates cell-cell and cell-matrix adhesion, a possible role with E-cadherin/beta-catenin
80. Expression level, subcellular distribution and rho-GDI binding affinity of merlin in comparison with ezrin/radixin/moesin proteins
81. Regulation of cortical structure by the ezrin-radixin-moesin protein family
82. Interdomain binding mediates tumor growth suppression by the NF2 gene product
83. Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas
84. Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas
85. Predictors of survival in neurofibromatosis 2