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Volumn 64, Issue 4, 1999, Pages 1230-1233

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities [7]

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CLINICAL ARTICLE; DISEASE SEVERITY; EYE MALFORMATION; FEMALE; GERM LINE; HAMARTOMA; HUMAN; LETTER; MALE; MISSENSE MUTATION; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033358601     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302338     Document Type: Letter
Times cited : (16)

References (19)
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    • ME Baser VF Mautner NK Ragge A Nechiporuk VM Riccardi J Klein J Sainz Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations Neurology 47 1996 a 1269 1277
    • (1996) Neurology , vol.47 , pp. 1269-1277
    • Baser, ME1    Mautner, VF2    Ragge, NK3    Nechiporuk, A4    Riccardi, VM5    Klein, J6    Sainz, J7
  • 2
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    • Phenotypic variability in monozygotic twins with neurofibromatosis 2
    • ME Baser NK Ragge VM Riccardi T Janus B Ganz S Pulst Phenotypic variability in monozygotic twins with neurofibromatosis 2 Am J Med Genet 64 1996 b 563 567
    • (1996) Am J Med Genet , vol.64 , pp. 563-567
    • Baser, ME1    Ragge, NK2    Riccardi, VM3    Janus, T4    Ganz, B5    Pulst, S6
  • 3
    • 0026763196 scopus 로고
    • Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2
    • EA Bouzas DM Parry R Eldridge MI Kaiser-Kupfer Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2 Retina 12 1992 103 107
    • (1992) Retina , vol.12 , pp. 103-107
    • Bouzas, EA1    Parry, DM2    Eldridge, R3    Kaiser-Kupfer, MI4
  • 5
    • 0031799509 scopus 로고    scopus 로고
    • Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease caused by truncating mutations
    • DGR Evans L Trueman A Wallace T Strachan Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease caused by truncating mutations J Med Genet 35 1998 450 455
    • (1998) J Med Genet , vol.35 , pp. 450-455
    • Evans, DGR1    Trueman, L2    Wallace, A3    Strachan, T4
  • 6
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromtaosis 2
    • DH Gutmann A Aylsworth JC Carey B Korf J Marks RE Pyeritz A Rubenstein The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromtaosis 2 JAMA 278 1997 51 57
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, DH1    Aylsworth, A2    Carey, JC3    Korf, B4    Marks, J5    Pyeritz, RE6    Rubenstein, A7
  • 13
    • 0027937181 scopus 로고
    • Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
    • DM Parry R Eldridge MI Kaiser-Kupfer EA Bouzas A Pikus N Patronas Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity Am J Med Genet 52 1994 450 461
    • (1994) Am J Med Genet , vol.52 , pp. 450-461
    • Parry, DM1    Eldridge, R2    Kaiser-Kupfer, MI3    Bouzas, EA4    Pikus, A5    Patronas, N6
  • 14
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    • Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities
    • DM Parry MM MacCollin MI Kaiser-Kupfer K Pulaski HS Nicholson M Bolesta R Eldridge Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities Am J Hum Genet 59 1996 529 539
    • (1996) Am J Hum Genet , vol.59 , pp. 529-539
    • Parry, DM1    MacCollin, MM2    Kaiser-Kupfer, MI3    Pulaski, K4    Nicholson, HS5    Bolesta, M6    Eldridge, R7
  • 17
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    • High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
    • J Sainz K Figueroa ME Baser VF Mautner SM Pulst High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons Hum Mol Genet 4 1995 137 139
    • (1995) Hum Mol Genet , vol.4 , pp. 137-139
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  • 19
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    • Long-term observation of retinal lesions in tuberous sclerosis
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    • Zimmer-Galler, IE1    Robertson, DM2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.