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Volumn 21, Issue 4, 2012, Pages 212-214

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

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[No Author keywords available]

Indexed keywords

METHYLPHENIDATE;

EID: 84865956079     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283557231     Document Type: Article
Times cited : (6)

References (12)
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    • Noonan phenotype associated with neurofibromatosis
    • Allanson JE, Hall JG, Van Allen MI (1985). Noonan phenotype associated with neurofibromatosis. Am J Med Genet 21:457-462.
    • (1985) Am J Med Genet , vol.21 , pp. 457-462
    • Allanson, J.E.1    Hall, J.G.2    Van Allen, M.I.3
  • 2
    • 0023244033 scopus 로고
    • Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
    • Barker D,Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, et al. (1987). Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100-1102.
    • (1987) Science , vol.236 , pp. 1100-1102
    • Barker Dwright, E.1    Nguyen, K.2    Cannon, L.3    Fain, P.4    Goldgar, D.5
  • 3
    • 0029993451 scopus 로고    scopus 로고
    • Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis
    • Colley A, Donnai D, Evans DGR (1996). Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 49:59-64.
    • (1996) Clin Genet , vol.49 , pp. 59-64
    • Colley, A.1    Donnai, D.2    Evans, D.G.R.3
  • 4
    • 0034094731 scopus 로고    scopus 로고
    • Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children
    • DeBella K, Szudek J, Friedman JM (2000). Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105:608-614.
    • (2000) Pediatrics , vol.105 , pp. 608-614
    • Debella, K.1    Szudek, J.2    Friedman, J.M.3
  • 5
    • 28144437387 scopus 로고    scopus 로고
    • NF1 gene mutations represent the major molecular event underlying Neurofibromatosis- Noonan syndrome
    • De Luca A, Bottilo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (2005). NF1 gene mutations represent the major molecular event underlying Neurofibromatosis- Noonan syndrome. Am J Hum Genet 77:1092-1101.
    • (2005) Am J Hum Genet , vol.77 , pp. 1092-1101
    • De Luca, A.1    Bottilo, I.2    Sarkozy, A.3    Carta, C.4    Neri, C.5    Bellacchio, E.6
  • 6
    • 77955583599 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
    • Martinelli S, De Luca A, Stellacci E, Rossi C, Checqulolo S, Lepri F, et al. (2010). Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 87:250-257.
    • (2010) Am J Hum Genet , vol.87 , pp. 250-257
    • Martinelli, S.1    De Luca, A.2    Stellacci, E.3    Rossi, C.4    Checqulolo, S.5    Lepri, F.6
  • 7
    • 37249013316 scopus 로고    scopus 로고
    • Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: Genotype-phenotype relationships and overlap with Costello syndrome
    • Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. (2007). Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 44:763-771.
    • (2007) J Med Genet , vol.44 , pp. 763-771
    • Nava, C.1    Hanna, N.2    Michot, C.3    Pereira, S.4    Pouvreau, N.5    Niihori, T.6
  • 11
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    • An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation
    • Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. (2007). An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80:140-151.
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    • Upadhyaya, M.1    Huson, S.M.2    Davies, M.3    Thomas, N.4    Chuzhanova, N.5    Giovannini, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.