211 related articles for article (PubMed ID: 9643284)
1. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG; Trueman L; Wallace A; Collins S; Strachan T
J Med Genet; 1998 Jun; 35(6):450-5. PubMed ID: 9643284
[TBL] [Abstract][Full Text] [Related]
2. Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.
Kluwe L; Bayer S; Baser ME; Hazim W; Haase W; Fünsterer C; Mautner VF
Hum Genet; 1996 Nov; 98(5):534-8. PubMed ID: 8882871
[TBL] [Abstract][Full Text] [Related]
3. [Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L; De Moncuit C; Thomas G; Olschwang S
Rev Neurol (Paris); 2007 Nov; 163(11):1031-8. PubMed ID: 18033041
[TBL] [Abstract][Full Text] [Related]
4. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).
Welling DB
Laryngoscope; 1998 Feb; 108(2):178-89. PubMed ID: 9473065
[TBL] [Abstract][Full Text] [Related]
5. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
Parry DM; MacCollin MM; Kaiser-Kupfer MI; Pulaski K; Nicholson HS; Bolesta M; Eldridge R; Gusella JF
Am J Hum Genet; 1996 Sep; 59(3):529-39. PubMed ID: 8751853
[TBL] [Abstract][Full Text] [Related]
6. Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan SK; Shenton A; Ferner R; Wallace AJ; Huson SM; Ramsden RT; Evans DG
Clin Genet; 2010 Feb; 77(2):163-70. PubMed ID: 19968670
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
Mohyuddin A; Neary WJ; Wallace A; Wu CL; Purcell S; Reid H; Ramsden RT; Read A; Black G; Evans DG
J Med Genet; 2002 May; 39(5):315-22. PubMed ID: 12011146
[TBL] [Abstract][Full Text] [Related]
8. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
Ruttledge MH; Andermann AA; Phelan CM; Claudio JO; Han FY; Chretien N; Rangaratnam S; MacCollin M; Short P; Parry D; Michels V; Riccardi VM; Weksberg R; Kitamura K; Bradburn JM; Hall BD; Propping P; Rouleau GA
Am J Hum Genet; 1996 Aug; 59(2):331-42. PubMed ID: 8755919
[TBL] [Abstract][Full Text] [Related]
9. A point mutation associated with a severe phenotype of neurofibromatosis 2.
MacCollin M; Braverman N; Viskochil D; Ruttledge M; Davis K; Ojemann R; Gusella J; Parry DM
Ann Neurol; 1996 Sep; 40(3):440-5. PubMed ID: 8797533
[TBL] [Abstract][Full Text] [Related]
10. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Baser ME; Kuramoto L; Woods R; Joe H; Friedman JM; Wallace AJ; Ramsden RT; Olschwang S; Bijlsma E; Kalamarides M; Papi L; Kato R; Carroll J; Lázaro C; Joncourt F; Parry DM; Rouleau GA; Evans DG
J Med Genet; 2005 Jul; 42(7):540-6. PubMed ID: 15994874
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.
Kluwe L; MacCollin M; Tatagiba M; Thomas S; Hazim W; Haase W; Mautner VF
Am J Med Genet; 1998 May; 77(3):228-33. PubMed ID: 9605590
[TBL] [Abstract][Full Text] [Related]
12. Genetic Severity Score predicts clinical phenotype in NF2.
Halliday D; Emmanouil B; Pretorius P; MacKeith S; Painter S; Tomkins H; Evans DG; Parry A
J Med Genet; 2017 Oct; 54(10):657-664. PubMed ID: 28848060
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A; Jones A; Joe H; Heap L; Smith MJ; Wallace AJ; Halliday D; Parry A; Taylor A; Raymond L; Shaw A; Afridi S; Obholzer R; Axon P; King AT; ; Friedman JM; Evans DG
J Med Genet; 2015 Oct; 52(10):699-705. PubMed ID: 26275417
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations.
Mautner VF; Baser ME; Kluwe L
Hum Genet; 1996 Aug; 98(2):203-6. PubMed ID: 8698343
[TBL] [Abstract][Full Text] [Related]
15. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.
Sainz J; Huynh DP; Figueroa K; Ragge NK; Baser ME; Pulst SM
Hum Mol Genet; 1994 Jun; 3(6):885-91. PubMed ID: 7951231
[TBL] [Abstract][Full Text] [Related]
16. Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Jacoby LB; MacCollin M; Parry DM; Kluwe L; Lynch J; Jones D; Gusella JF
Neurogenetics; 1999 Apr; 2(2):101-8. PubMed ID: 10369886
[TBL] [Abstract][Full Text] [Related]
17. Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.
Irving RM; Harada T; Moffat DA; Hardy DG; Whittaker JL; Xuereb JH; Maher ER
Am J Otol; 1997 Nov; 18(6):754-60. PubMed ID: 9391673
[TBL] [Abstract][Full Text] [Related]
18. Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
Irving RM; Moffat DA; Hardy DG; Barton DE; Xuereb JH; Maher ER
Hum Mol Genet; 1994 Feb; 3(2):347-50. PubMed ID: 8004107
[TBL] [Abstract][Full Text] [Related]
19. Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
Smith MJ; Higgs JE; Bowers NL; Halliday D; Paterson J; Gillespie J; Huson SM; Freeman SR; Lloyd S; Rutherford SA; King AT; Wallace AJ; Ramsden RT; Evans DG
J Med Genet; 2011 Apr; 48(4):261-5. PubMed ID: 21278391
[TBL] [Abstract][Full Text] [Related]
20. Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas.
Hung G; Faudoa R; Baser ME; Xue Z; Kluwe L; Slattery W; Brackman D; Lim D
Cancer Genet Cytogenet; 2000 Apr; 118(2):167-8. PubMed ID: 10748301
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]