메뉴 건너뛰기




Volumn 34, Issue 3, 2017, Pages 271-276

Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

EID: 85017386508     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.13094     Document Type: Article
Times cited : (14)

References (27)
  • 1
    • 85047691039 scopus 로고
    • Segmental neurofibromatosis: is it uncommon or underdiagnosed?
    • Ingordo V, D'Andria G, Mendicini S et al. Segmental neurofibromatosis: is it uncommon or underdiagnosed? Arch Dermatol 1995;131:959–960.
    • (1995) Arch Dermatol , vol.131 , pp. 959-960
    • Ingordo, V.1    D'Andria, G.2    Mendicini, S.3
  • 2
    • 0035849530 scopus 로고    scopus 로고
    • The clinical and diagnostic implications of mosaicism in the neurofibromatoses
    • Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001;56:1433–1443.
    • (2001) Neurology , vol.56 , pp. 1433-1443
    • Ruggieri, M.1    Huson, S.M.2
  • 3
    • 68949148998 scopus 로고    scopus 로고
    • Predictive value of cafe au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1
    • Nunley KS, Gao F, Albers AC et al. Predictive value of cafe au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. Arch Dermatol 2009;145:883–887.
    • (2009) Arch Dermatol , vol.145 , pp. 883-887
    • Nunley, K.S.1    Gao, F.2    Albers, A.C.3
  • 4
    • 79952257003 scopus 로고    scopus 로고
    • A highly sensitive genetic protocol to detect NF1 mutations
    • Valero MC, Martin Y, Hernandez-Imaz E et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn 2011;13:113–122.
    • (2011) J Mol Diagn , vol.13 , pp. 113-122
    • Valero, M.C.1    Martin, Y.2    Hernandez-Imaz, E.3
  • 5
    • 0020173464 scopus 로고
    • Neurofibromatosis: clinical heterogeneity
    • Riccardi VM. Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer 1982;7:1–34.
    • (1982) Curr Probl Cancer , vol.7 , pp. 1-34
    • Riccardi, V.M.1
  • 8
    • 84905699687 scopus 로고    scopus 로고
    • Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1
    • Tanito K, Ota A, Kamide R et al. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1. J Dermatol 2014;41:724–728.
    • (2014) J Dermatol , vol.41 , pp. 724-728
    • Tanito, K.1    Ota, A.2    Kamide, R.3
  • 9
    • 7044239075 scopus 로고    scopus 로고
    • Ophthalmological manifestations in segmental neurofibromatosis type 1
    • Ruggieri M, Pavone P, Polizzi A et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. Br J Ophthalmol 2004;88:1429–1433.
    • (2004) Br J Ophthalmol , vol.88 , pp. 1429-1433
    • Ruggieri, M.1    Pavone, P.2    Polizzi, A.3
  • 10
    • 70349481972 scopus 로고    scopus 로고
    • Segmental neurofibromatosis of the distal arm in a man who developed Hodgkin lymphoma
    • Dang JD, Cohen PR. Segmental neurofibromatosis of the distal arm in a man who developed Hodgkin lymphoma. Int J Dermatol 2009;48:1105–1109.
    • (2009) Int J Dermatol , vol.48 , pp. 1105-1109
    • Dang, J.D.1    Cohen, P.R.2
  • 11
    • 33947209719 scopus 로고    scopus 로고
    • Bilateral segmental neurofibromatosis: a case report and review
    • Gonzalez G, Russi ME, Lodeiros A. Bilateral segmental neurofibromatosis: a case report and review. Pediatr Neurol 2007;36:51–53.
    • (2007) Pediatr Neurol , vol.36 , pp. 51-53
    • Gonzalez, G.1    Russi, M.E.2    Lodeiros, A.3
  • 12
    • 84865662232 scopus 로고    scopus 로고
    • Multiple segmental neurofibromatosis
    • Lee SH, Roh MR, Kim SC. Multiple segmental neurofibromatosis. J Dermatol 2012;39:810–811.
    • (2012) J Dermatol , vol.39 , pp. 810-811
    • Lee, S.H.1    Roh, M.R.2    Kim, S.C.3
  • 13
    • 0027452134 scopus 로고
    • Mosaicism in human skin. Understanding the patterns and mechanisms
    • Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993;129:1460–1470.
    • (1993) Arch Dermatol , vol.129 , pp. 1460-1470
    • Happle, R.1
  • 14
    • 84885650720 scopus 로고    scopus 로고
    • Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion
    • Marque M, Roubertie A, Jaussent A et al. Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion. J Am Acad Dermatol 2013;69:768–775.
    • (2013) J Am Acad Dermatol , vol.69 , pp. 768-775
    • Marque, M.1    Roubertie, A.2    Jaussent, A.3
  • 15
    • 84879600533 scopus 로고    scopus 로고
    • Anemic nevus in neurofibromatosis type 1
    • Tadini G, Brena M, Pezzani L et al. Anemic nevus in neurofibromatosis type 1. Dermatology 2013;226:115–118.
    • (2013) Dermatology , vol.226 , pp. 115-118
    • Tadini, G.1    Brena, M.2    Pezzani, L.3
  • 16
    • 84904681252 scopus 로고    scopus 로고
    • Juvenile xanthogranulomas are highly prevalent but transient in young children with neurofibromatosis type 1
    • Fenot M, Stalder JF, Barbarot S. Juvenile xanthogranulomas are highly prevalent but transient in young children with neurofibromatosis type 1. J Am Acad Dermatol 2014;71:389–390.
    • (2014) J Am Acad Dermatol , vol.71 , pp. 389-390
    • Fenot, M.1    Stalder, J.F.2    Barbarot, S.3
  • 18
    • 84885373805 scopus 로고    scopus 로고
    • Epilepsy in individuals with neurofibromatosis type 1
    • Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia 2013;54:1810–1814.
    • (2013) Epilepsia , vol.54 , pp. 1810-1814
    • Ostendorf, A.P.1    Gutmann, D.H.2    Weisenberg, J.L.3
  • 19
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
    • Berg AT, Berkovic SF, Brodie MJ et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010;51:676–685.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 20
    • 0033960257 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumors in the setting of segmental neurofibromatosis. Case report
    • Schwarz J, Belzberg AJ. Malignant peripheral nerve sheath tumors in the setting of segmental neurofibromatosis. Case report. J Neurosurg 2000;92:342–346.
    • (2000) J Neurosurg , vol.92 , pp. 342-346
    • Schwarz, J.1    Belzberg, A.J.2
  • 21
    • 79952114929 scopus 로고    scopus 로고
    • Segmental neurofibromatosis and malignancy
    • Dang JD, Cohen PR. Segmental neurofibromatosis and malignancy. Skinmed 2010;8:156–159.
    • (2010) Skinmed , vol.8 , pp. 156-159
    • Dang, J.D.1    Cohen, P.R.2
  • 22
    • 0030727068 scopus 로고    scopus 로고
    • Synchronous occurrence of Wilms tumor and ganglioneuroblastoma in a child with neurofibromatosis
    • Ito F, Watanabe Y, Ito T. Synchronous occurrence of Wilms tumor and ganglioneuroblastoma in a child with neurofibromatosis. Eur J Pediatr Surg 1997;7:308–310.
    • (1997) Eur J Pediatr Surg , vol.7 , pp. 308-310
    • Ito, F.1    Watanabe, Y.2    Ito, T.3
  • 23
    • 0031844256 scopus 로고    scopus 로고
    • Ganglioneuroblastoma and ganglioneuroma in association with neurofibromatosis type I: report of three cases
    • Geraci AP, de Csepel J, Shlasko E et al. Ganglioneuroblastoma and ganglioneuroma in association with neurofibromatosis type I: report of three cases. J Child Neurol 1998;13:356–358.
    • (1998) J Child Neurol , vol.13 , pp. 356-358
    • Geraci, A.P.1    de Csepel, J.2    Shlasko, E.3
  • 24
    • 0034080551 scopus 로고    scopus 로고
    • Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
    • Tinschert S, Naumann I, Stegmann E et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000;8:455–459.
    • (2000) Eur J Hum Genet , vol.8 , pp. 455-459
    • Tinschert, S.1    Naumann, I.2    Stegmann, E.3
  • 25
    • 27144550883 scopus 로고    scopus 로고
    • Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
    • Consoli C, Moss C, Green S et al. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 2005;125:463–466.
    • (2005) J Invest Dermatol , vol.125 , pp. 463-466
    • Consoli, C.1    Moss, C.2    Green, S.3
  • 27
    • 85012198762 scopus 로고    scopus 로고
    • Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic NF
    • Jobling RK, Lara-Corrales I, Hsiao MC et al. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic NF. Br J Dermatol 2017. doi:10.1111/bjd.14873.
    • (2017) Br J Dermatol
    • Jobling, R.K.1    Lara-Corrales, I.2    Hsiao, M.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.