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   SMARCAL1base
   Variation registry for  Schimke immuno-osseous dysplasia


SMARCAL1base mutation publications

[2010] [2009] [2008] [2007] [2005] [2004] [2002]

Search PubMed latest citations for SMARCAL1 mutations

    2010

  • Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
    Yue Z, Xiong S, Sun L, Huang W, Mo Y, Huang L, Jiang X, Chen S, Hu B, Wang Y
    Nephrol Dial Transplant 2010(5): 1697-702 [PubMed abstract].

    2009

  • SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
    Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
    Pediatr Res 2009(5): 564-8 [PubMed abstract].

  • Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
    Lücke T, Kanzelmeyer N, Baradaran-Heravi A, Boerkoel CF, Burg M, Ehrich JH, Pape L
    Pediatr Transplant 2009(4): 482-9 [PubMed abstract].

    2008

  • Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.
    Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y, Davidovits M, Anikster Y
    Pediatr Res 2008(4): 398-403 [PubMed abstract].

    2007

  • Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.
    Sauerstein K, Schroth M, Amann K, Hoyer J, Singer H, Rauch A, Dötsch J
    Eur J Pediatr 2007(12): 1285-8 [PubMed abstract].

  • Schimke immunoosseous dysplasia: suggestions of genetic diversity.
    Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF
    Hum Mutat 2007(3): 273-83 [PubMed abstract].

  • Schimke immuno-osseous dysplasia: a clinicopathological correlation.
    Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF
    J Med Genet 2007(2): 122-30 [PubMed abstract].

    2005

  • R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
    Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M
    Pediatr Nephrol 2005(12): 1724-8 [PubMed abstract].

  • Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
    Lücke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM
    Am J Med Genet A 2005(2): 202-5 [PubMed abstract].

  • Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
    Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Fründ S, Kaitila I, Lama G, Lamfers P, Lücke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF
    Am J Med Genet A 2005(2): 206-10 [PubMed abstract].

    2004

  • Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.
    Lücke T, Marwedel KM, Kanzelmeyer NK, Hori A, Offner G, Kreipe HH, Ehrich JH, Das AM
    Pediatr Nephrol 2004(6): 672-5 [PubMed abstract].

  • Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
    Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H
    Am J Med Genet A 2004(2): 194-9 [PubMed abstract].

    2002

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
    Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW
    Nat Genet 2002(2): 215-20 [PubMed abstract].

  • Longevity in Schimke immuno-osseous dysplasia.
    Lou S, Lamfers P, McGuire N, Boerkoel CF
    J Med Genet 2002(12): 922-5 [PubMed abstract].