메뉴 건너뛰기




Volumn 23, Issue 4, 2006, Pages 373-377

A unique presentation of immuno-osseous dysplasia

Author keywords

[No Author keywords available]

Indexed keywords

COTRIMOXAZOLE; FLUCONAZOLE; HUMAN IMMUNOGLOBULIN;

EID: 33746867445     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2006.00260.x     Document Type: Article
Times cited : (6)

References (13)
  • 1
    • 0015985522 scopus 로고
    • Antibody-mediated immunodeficiency in short-limbed dwarfism
    • Ammann AJ, Sutliff W, Millinchick E. Antibody-mediated immunodeficiency in short-limbed dwarfism. J Pediatr 1974;84:200-203.
    • (1974) J Pediatr , vol.84 , pp. 200-203
    • Ammann, A.J.1    Sutliff, W.2    Millinchick, E.3
  • 3
    • 0027467736 scopus 로고
    • Cartilage-hair hypoplasia - Clinical manifestations in 108 Finnish patients
    • Makitie O, Kaitila I. Cartilage-hair hypoplasia - clinical manifestations in 108 Finnish patients. Eur J Pediatr 1993;152:211-217.
    • (1993) Eur J Pediatr , vol.152 , pp. 211-217
    • Makitie, O.1    Kaitila, I.2
  • 4
    • 0026020604 scopus 로고
    • Omenn phenotype with short-limbed dwarfism
    • Schrofer O, Blaha I, Mannhardt W et al. Omenn phenotype with short-limbed dwarfism. J Pediatr 1991;118:86-89.
    • (1991) J Pediatr , vol.118 , pp. 86-89
    • Schrofer, O.1    Blaha, I.2    Mannhardt, W.3
  • 5
    • 0030773288 scopus 로고    scopus 로고
    • Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: A newly recognized immuno-osseous dysplasia
    • Castriota-Scanderbeg A, Mingarelli R, Caramia G et al. Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognized immuno-osseous dysplasia. J Med Genet 1997;34:854-856.
    • (1997) J Med Genet , vol.34 , pp. 854-856
    • Castriota-Scanderbeg, A.1    Mingarelli, R.2    Caramia, G.3
  • 6
    • 0025733274 scopus 로고
    • Schimke immuno-osseous dysplasia: A newly recognized multisystem disease
    • Spranger J, Hinkel GK, Stoss H et al. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 1991;119:64-72.
    • (1991) J Pediatr , vol.119 , pp. 64-72
    • Spranger, J.1    Hinkel, G.K.2    Stoss, H.3
  • 7
    • 0033993725 scopus 로고    scopus 로고
    • Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 New cases and a review of the literature
    • Boerkoel CF, O'Neill S, Andre JL et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000;159:1-7.
    • (2000) Eur J Pediatr , vol.159 , pp. 1-7
    • Boerkoel, C.F.1    O'Neill, S.2    Andre, J.L.3
  • 8
    • 0014591416 scopus 로고
    • Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia
    • Gatti RA, Platt N, Pomerance H et al. Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J Pediatr 1969;5:675-684.
    • (1969) J Pediatr , vol.5 , pp. 675-684
    • Gatti, R.A.1    Platt, N.2    Pomerance, H.3
  • 9
    • 0015350806 scopus 로고
    • Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism
    • Gotoff SP, Esterly NB, Gottbrath E et al. Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism. J Pediatr 1972;80:1010-1017.
    • (1972) J Pediatr , vol.80 , pp. 1010-1017
    • Gotoff, S.P.1    Esterly, N.B.2    Gottbrath, E.3
  • 10
    • 0025965004 scopus 로고
    • Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora
    • MacDermot KD, Winter RM, Wigglesworth JS et al. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora. J Med Genet 1991;28:10-17.
    • (1991) J Med Genet , vol.28 , pp. 10-17
    • MacDermot, K.D.1    Winter, R.M.2    Wigglesworth, J.S.3
  • 11
    • 0024469727 scopus 로고
    • Associations of the skeletal and immune systems
    • Hong R. Associations of the skeletal and immune systems. Am J Med Genet 1989;34:55-59.
    • (1989) Am J Med Genet , vol.34 , pp. 55-59
    • Hong, R.1
  • 12
    • 18544381908 scopus 로고    scopus 로고
    • Mutant chromatin remodelling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
    • Boerkoel CF, Takashima H, John J et al. Mutant chromatin remodelling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 2002;30:215-220.
    • (2002) Nat Genet , vol.30 , pp. 215-220
    • Boerkoel, C.F.1    Takashima, H.2    John, J.3
  • 13
    • 0036918287 scopus 로고    scopus 로고
    • Longevity in Schimke immuno-osseous dysplasia
    • Lou S, Lamfers P, McGuireN et al. Longevity in Schimke immuno-osseous dysplasia. J Med Genet 2002;39:922-925.
    • (2002) J Med Genet , vol.39 , pp. 922-925
    • Lou, S.1    Lamfers, P.2    McGuire, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.