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Volumn 46, Issue 4, 2002, Pages 621-625

The association of Buschke-Ollendorf syndrome and nail-patella syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE LESION; BUSCHKE OLLENDORFF SYNDROME; CASE REPORT; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; DISEASE ASSOCIATION; GENE LOCATION; GENE MUTATION; HUMAN; MALE; NAIL PATELLA SYNDROME; NEUTROPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNDROME;

EID: 0036553464     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1067/mjd.2002.120614     Document Type: Article
Times cited : (17)

References (30)
  • 1
    • 0023149420 scopus 로고
    • Heritable skin diseases with molecular defects in collagen or elastin in the genodermatoses
    • Uitto J, Shambam A. Heritable skin diseases with molecular defects in collagen or elastin in the genodermatoses. Dermatol Clin 1987;5:63-84.
    • (1987) Dermatol Clin , vol.5 , pp. 63-84
    • Uitto, J.1    Shambam, A.2
  • 2
    • 0022560332 scopus 로고
    • Buschke-Ollendorf syndrome. Disseminated dermatofibrosis with osteopoikilosis
    • Verbow J, Graham R. Buschke-Ollendorf syndrome. Disseminated dermatofibrosis with osteopoikilosis. Clin Exp Dermatol 1986;11:17-26.
    • (1986) Clin Exp Dermatol , vol.11 , pp. 17-26
    • Verbow, J.1    Graham, R.2
  • 3
    • 0005266147 scopus 로고    scopus 로고
    • Genetics and genodermatoses
    • Champion RH, Burton JL, Burns DA, Breathmach JM, editors. London: Blackwell Science
    • Harper JI. Genetics and genodermatoses. In: Champion RH, Burton JL, Burns DA, Breathmach JM, editors. Textbook of dermatology. London: Blackwell Science; 1998. p. 421-2.
    • (1998) Textbook of dermatology , pp. 421-422
    • Harper, J.I.1
  • 4
    • 0000094829 scopus 로고
    • Dermatofibrosis lenticularis disseminata and osteopoikilosis
    • Curth HO. Dermatofibrosis lenticularis disseminata and osteopoikilosis. Arch Dermatol 1934;30:552-60.
    • (1934) Arch Dermatol , vol.30 , pp. 552-560
    • Curth, H.O.1
  • 5
    • 0026659229 scopus 로고
    • Buschke-Ollendorf syndrome associated with elevated elastin production by affected skin fibroblasts in culture
    • Giro MG, Duvie M, Smith LT, Kennedy R, Rapini R, Arnett FC, et al. Buschke-Ollendorf syndrome associated with elevated elastin production by affected skin fibroblasts in culture. J Invest Dermatol 1992;99:129-37.
    • (1992) J Invest Dermatol , vol.99 , pp. 129-137
    • Giro, M.G.1    Duvie, M.2    Smith, L.T.3    Kennedy, R.4    Rapini, R.5    Arnett, F.C.6
  • 6
    • 0019964535 scopus 로고
    • Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders
    • Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Invest Dermatol 1982; 79(Suppl):7s-16s.
    • (1982) J Invest Dermatol , vol.79 , pp. 7s-16s
    • Holbrook, K.A.1    Byers, P.H.2
  • 7
    • 0019813778 scopus 로고
    • Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorf syndrome
    • Uitto J, SantaCruz DJ, Starcher BC, Whyte MP, Murphy WA. Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorf syndrome. J Invest Dermatol 1981;76:284-7.
    • (1981) J Invest Dermatol , vol.76 , pp. 284-287
    • Uitto, J.1    SantaCruz, D.J.2    Starcher, B.C.3    Whyte, M.P.4    Murphy, W.A.5
  • 8
    • 0025780528 scopus 로고
    • Buschke-Ollendorf syndrome of the scalp: Histologic and ultra-structural findings
    • Trattner A, David M, Rothem A, Ben-David E, Sandbank M. Buschke-Ollendorf syndrome of the scalp: histologic and ultra-structural findings. J Am Acad Dermatol 1991;24:822-4.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 822-824
    • Trattner, A.1    David, M.2    Rothem, A.3    Ben-David, E.4    Sandbank, M.5
  • 9
    • 0017698788 scopus 로고
    • Juvenile elastoma and osteopoikilosis (the Buschke-Ollendorf syndrome)
    • Morrison JGL, Wilson Jones E, Macdonald DM. Juvenile elastoma and osteopoikilosis (the Buschke-Ollendorf syndrome). Br J Dermatol 1977;97:417-24.
    • (1977) Br J Dermatol , vol.97 , pp. 417-424
    • Morrison, J.G.L.1    Wilson Jones, E.2    Macdonald, D.M.3
  • 11
    • 0020086432 scopus 로고
    • Juvenile elastoma and osteopoikilosis (Buschke-Ollendorf syndrome)
    • Atherton DL, Wells RS. Juvenile elastoma and osteopoikilosis (Buschke-Ollendorf syndrome). Clin Exp Dermatol 1982;7:109-13.
    • (1982) Clin Exp Dermatol , vol.7 , pp. 109-113
    • Atherton, D.L.1    Wells, R.S.2
  • 12
    • 0015122059 scopus 로고
    • Osteopoikilosis in a twin
    • Szabo AD. Osteopoikilosis in a twin. Clin Orthop 1971;79:156-63.
    • (1971) Clin Orthop , vol.79 , pp. 156-163
    • Szabo, A.D.1
  • 16
  • 17
    • 0027270744 scopus 로고
    • Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7
    • Foster K, Ferrell R, King-Underwood L, Povey S, Attwood J, Rennick R, et al. Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet 1993; 57:87-96.
    • (1993) Ann Hum Genet , vol.57 , pp. 87-96
    • Foster, K.1    Ferrell, R.2    King-Underwood, L.3    Povey, S.4    Attwood, J.5    Rennick, R.6
  • 20
    • 0031573791 scopus 로고    scopus 로고
    • Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: Tissue-specific expression and linkage mapping on chromosome 9
    • Ianotti CA, Inoue H, Bernal E, Aoki M, Liu I, Donis-Keller H, et al. Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9. Genomics 1997;46:520-4.
    • (1997) Genomics , vol.46 , pp. 520-524
    • Ianotti, C.A.1    Inoue, H.2    Bernal, E.3    Aoki, M.4    Liu, I.5    Donis-Keller, H.6
  • 21
    • 0031800728 scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1994;19:47-50.
    • (1994) Nat Genet , vol.19 , pp. 47-50
    • Dreyer, S.D.1    Zhou, G.2    Baldini, A.3    Winterpacht, A.4    Zabel, B.5    Cole, W.6
  • 22
    • 0031747153 scopus 로고    scopus 로고
    • Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
    • Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998;19:51-5.
    • (1998) Nat Genet , vol.19 , pp. 51-55
    • Chen, H.1    Lun, Y.2    Ovchinnikov, D.3    Kokubo, H.4    Oberg, K.C.5    Pepicelli, C.V.6
  • 26
    • 0026503997 scopus 로고
    • Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome
    • Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB. Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics 1992;12:836-7.
    • (1992) Genomics , vol.12 , pp. 836-837
    • Greenspan, D.S.1    Byers, M.G.2    Eddy, R.L.3    Cheng, W.4    Jani-Sait, S.5    Shows, T.B.6
  • 27
    • 0027256491 scopus 로고
    • Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?
    • Ghiggeri GM, Caridi G, Altieri P, Pezzolo A, Gimelli G Zuffardi O. Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? Hum Genet 1993;91:175-7.
    • (1993) Hum Genet , vol.91 , pp. 175-177
    • Ghiggeri, G.M.1    Caridi, G.2    Altieri, P.3    Pezzolo, A.4    Gimelli, G.5    Zuffardi, O.6
  • 28
    • 0028930442 scopus 로고
    • COL5A1: Fine mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome type 2
    • Greenspan DS, Northrup H, Au KS, McAllister KA, Francomano CA, Wenstrup RJ, et al. COL5A1: fine mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome type 2. Genomics 1995;25:737-9.
    • (1995) Genomics , vol.25 , pp. 737-739
    • Greenspan, D.S.1    Northrup, H.2    Au, K.S.3    McAllister, K.A.4    Francomano, C.A.5    Wenstrup, R.J.6
  • 29
    • 0030008405 scopus 로고    scopus 로고
    • Diagnosis and management of chronic neutropenia during childhood
    • Bernini JC. Diagnosis and management of chronic neutropenia during childhood. Pediatr Clin North Am 1996;43:773-92.
    • (1996) Pediatr Clin North Am , vol.43 , pp. 773-792
    • Bernini, J.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.