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Volumn 163, Issue 11, 2007, Pages 1031-1038

Phenotype-Genotype study in 154 French NF2 mutation carriers;Analyse phénotypique de 154 patients porteurs d'une mutation constitutionnelle du gène NF2

Author keywords

Genotype; Germline mutation; Neurofibromatosis type 2; Phenotype; Risk assessment

Indexed keywords

MERLIN;

EID: 37149013042     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0035-3787(07)74175-9     Document Type: Article
Times cited : (2)

References (21)
  • 1
    • 0036780708 scopus 로고    scopus 로고
    • Predictors of the risk of mortality in neurofibromatosis 2
    • BASER ME, FRIEDMAN JM, AESCHLIMAN D. (2002a). Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet, 71: 715-723.
    • (2002) Am J Hum Genet , vol.71 , pp. 715-723
    • BASER, M.E.1    FRIEDMAN, J.M.2    AESCHLIMAN, D.3
  • 3
    • 3242661620 scopus 로고    scopus 로고
    • Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: A population-based study
    • BASER ME, KURAMOTO L, JOE H, FRIEDMAN, et al. (2004). Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet, 75: 231-239.
    • (2004) Am J Hum Genet , vol.75 , pp. 231-239
    • BASER, M.E.1    KURAMOTO, L.2    JOE, H.3    FRIEDMAN4
  • 5
    • 0028226739 scopus 로고
    • Germline mutations in the neurofibromatosis type 2 tumor suppressor gene
    • BOURN D, CARTER SA, MASON S, EVANS DGR, STRACHAN T. (1994). Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum Mol Genet, 3: 813-816.
    • (1994) Hum Mol Genet , vol.3 , pp. 813-816
    • BOURN, D.1    CARTER, S.A.2    MASON, S.3    EVANS, D.G.R.4    STRACHAN, T.5
  • 6
    • 0034213622 scopus 로고    scopus 로고
    • Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
    • CHARBONNIER F, RAUX G, WANG Q, et al. (2000). Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res, 60: 2760-2763.
    • (2000) Cancer Res , vol.60 , pp. 2760-2763
    • CHARBONNIER, F.1    RAUX, G.2    WANG, Q.3
  • 7
    • 11944267671 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity
    • EVANS DGR, HUSON SM, DONNAI D, et al. (1992a). A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet, 29: 841-846.
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • EVANS, D.G.R.1    HUSON, S.M.2    DONNAI, D.3
  • 8
    • 0027080030 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling
    • EVANS DGR, HUSON SM, DONNAI D, et al. (1992b). A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet, 29: 847-852.
    • (1992) J Med Genet , vol.29 , pp. 847-852
    • EVANS, D.G.R.1    HUSON, S.M.2    DONNAI, D.3
  • 9
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis type 1 and neurofibromatosis type 2
    • GUTMANN DH, AYLSWOTH A, CAREY JC, et al. (1997). The diagnostic evaluation and multidisciplinary management of neurofibromatosis type 1 and neurofibromatosis type 2. JAMA, 278: 51-57.
    • (1997) JAMA , vol.278 , pp. 51-57
    • GUTMANN, D.H.1    AYLSWOTH, A.2    CAREY, J.C.3
  • 10
    • 0032543266 scopus 로고    scopus 로고
    • Phenotypic variability associated with 14 splice-site mutations in the NF2 gene
    • KLUWE L, MAC COLLIN M, TATAGIBA M. (1998). Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. Am J Med Genet, 77: 223-228.
    • (1998) Am J Med Genet , vol.77 , pp. 223-228
    • KLUWE, L.1    MAC COLLIN, M.2    TATAGIBA, M.3
  • 11
    • 0030025114 scopus 로고    scopus 로고
    • A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type
    • KLUWE L, MAUTNER VF. (1996). A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type. Hum Genet, 97: 224-227.
    • (1996) Hum Genet , vol.97 , pp. 224-227
    • KLUWE, L.1    MAUTNER, V.F.2
  • 12
    • 0028837397 scopus 로고
    • Screening for germ-line mutations in the NF2 gene
    • MEREL P, HOANG-XUANG K, SANSON M, et al. (1993). Screening for germ-line mutations in the NF2 gene. Gene Chromosom Cancer, 12: 117-1127.
    • (1993) Gene Chromosom Cancer , vol.12 , pp. 117-1127
    • MEREL, P.1    HOANG-XUANG, K.2    SANSON, M.3
  • 13
    • 0029774092 scopus 로고    scopus 로고
    • Germline mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
    • PARRY DM, MAC COLLIN MM, KAISER- KUPFER MI, et al. (1996). Germline mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet, 59: 529-539.
    • (1996) Am J Hum Genet , vol.59 , pp. 529-539
    • PARRY, D.M.1    MAC COLLIN, M.M.2    KAISER- KUPFER, M.I.3
  • 14
    • 0035142218 scopus 로고    scopus 로고
    • Intramedullary and spinal canal tumors in patients with neurofibromatosis 2. MR imaging findings and correlation with genotype
    • PATRONAS NJ, COURCOUTSAKIS N, BROMLEY CM. (2001). Intramedullary and spinal canal tumors in patients with neurofibromatosis 2. MR imaging findings and correlation with genotype. Radiology, 218: 434-442.
    • (2001) Radiology , vol.218 , pp. 434-442
    • PATRONAS, N.J.1    COURCOUTSAKIS, N.2    BROMLEY, C.M.3
  • 15
    • 0027245423 scopus 로고
    • Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
    • ROULEAU GA, MEREL P, LUTCHAMN M, et al. (1993). Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature, 363: 515-521.
    • (1993) Nature , vol.363 , pp. 515-521
    • ROULEAU, G.A.1    MEREL, P.2    LUTCHAMN, M.3
  • 16
    • 19244362433 scopus 로고    scopus 로고
    • Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
    • RUTTLEDGE MH, ANDERMANN AA, PHELAN CM, et al. (1996). Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet, 59: 331-342.
    • (1996) Am J Hum Genet , vol.59 , pp. 331-342
    • RUTTLEDGE, M.H.1    ANDERMANN, A.A.2    PHELAN, C.M.3
  • 17
    • 0027236088 scopus 로고
    • Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
    • SANSON M, MARINEAU C, DESMAZE C, et al. (1993). Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. Hum Mol Genet, 2: 1215-1220.
    • (1993) Hum Mol Genet , vol.2 , pp. 1215-1220
    • SANSON, M.1    MARINEAU, C.2    DESMAZE, C.3
  • 18
    • 0029831658 scopus 로고    scopus 로고
    • A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes
    • SCOLES DR, BASER ME, PULST SM. (1996). A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology, 47: 544-546.
    • (1996) Neurology , vol.47 , pp. 544-546
    • SCOLES, D.R.1    BASER, M.E.2    PULST, S.M.3
  • 19
    • 0027173060 scopus 로고
    • A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitor factor locus
    • WATSON CJ, GAUNT L, EVANS G, PATEL K, HARRIS R, STRACHAN T. (1993). A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitor factor locus. Hum Mol Genet, 2: 701-704.
    • (1993) Hum Mol Genet , vol.2 , pp. 701-704
    • WATSON, C.J.1    GAUNT, L.2    EVANS, G.3    PATEL, K.4    HARRIS, R.5    STRACHAN, T.6
  • 20
    • 18644371170 scopus 로고    scopus 로고
    • Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
    • ZHAO Y, KUMAR RA, BASER ME. (2002). Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol, 23: 245-259.
    • (2002) Genet Epidemiol , vol.23 , pp. 245-259
    • ZHAO, Y.1    KUMAR, R.A.2    BASER, M.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.