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Page 1
Schimke immunoosseous dysplasia: defining skeletal features.
Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Fründ S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF. Hunter KB, et al. Among authors: schmidt b. Eur J Pediatr. 2010 Jul;169(7):801-11. doi: 10.1007/s00431-009-1115-9. Epub 2009 Dec 15. Eur J Pediatr. 2010. PMID: 20013129 Free PMC article.
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. Clewing JM, et al. Among authors: schmidt b. Hum Mutat. 2007 Mar;28(3):273-83. doi: 10.1002/humu.20432. Hum Mutat. 2007. PMID: 17089404
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Boerkoel CF, et al. Among authors: schmidt b. Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. Eur J Pediatr. 2000. PMID: 10653321
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. Boerkoel CF, et al. Among authors: schmidt b. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392
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. Kilic SS, et al. Among authors: schmidt b. Am J Med Genet A. 2005 Jun 1;135(2):206-10. doi: 10.1002/ajmg.a.30692. Am J Med Genet A. 2005. PMID: 15884045
Cerebral complications in Schimke immuno-osseous dysplasia.
Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Müller-Berghaus J, Querfeld U. Schmidt B, et al. Eur J Pediatr. 1997 Oct;156(10):789-91. doi: 10.1007/s004310050714. Eur J Pediatr. 1997. PMID: 9365070
Case of the month.
Wingenfeld P, Schmidt B, Querfeld U, Michalk D. Wingenfeld P, et al. Among authors: schmidt b. Eur J Pediatr. 1996 Mar;155(3):249-50. doi: 10.1007/BF01953947. Eur J Pediatr. 1996. PMID: 8929737 No abstract available.
Ventricular tachycardia due to left ventricular metastasis: A case report.
Urbanek L, Schaack D, Bordignon S, Tohoku S, Hirokami J, Plank K, Koch A, Chun KRJ, Schmidt B. Urbanek L, et al. Among authors: schmidt b. J Electrocardiol. 2024 May 29;85:37-38. doi: 10.1016/j.jelectrocard.2024.05.103. Online ahead of print. J Electrocardiol. 2024. PMID: 38830293
4,132 results