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1,113 results

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Page 1
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: smith gc. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392
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. Hum Mutat. 2007 Mar;28(3):273-83. doi: 10.1002/humu.20432. Hum Mutat. 2007. PMID: 17089404
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: smith gc. 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
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: smith gc. Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. Eur J Pediatr. 2000. PMID: 10653321
Ataxia-Telangiectasia Mutated (ATM) loss of function displays variant and tissue-specific differences across tumor types.
Pilie PG, Giuliani V, Wang WL, McGrail DJ, Bristow CA, Ngoi NYL, Kyewalabye K, Wani KM, Le H, Campbell E, Sánchez NS, Yang D, Gheeya JS, Goswamy RV, Holla V, Shaw KR, Meric-Bernstam F, Liu CY, Ma X, Feng N, Machado AA, Bardenhagen JP, Vellano CP, Marszalek JR, Rajendra E, Piscitello D, Johnson TI, Likhatcheva M, Elinati E, Majithiya J, Neves J, Grinkevich V, Ranzani M, Roy-Luzarraga M, Boursier M, Armstrong L, Geo L, Lillo G, Tse WY, Lazar AJ, Kopetz SE, Geck Do MK, Lively S, Johnson MG, Robinson HMR, Smith GCM, Carroll CL, Di Francesco ME, Jones P, Heffernan TP, Yap TA. Pilie PG, et al. Among authors: smith gcm. Clin Cancer Res. 2024 Feb 28. doi: 10.1158/1078-0432.CCR-23-1763. Online ahead of print. Clin Cancer Res. 2024. PMID: 38416404
Early intranasal medication administration in out-of-hospital cardiac arrest: Two randomized simulation trials.
Dowker SR, Downey ML, Majhail NK, Scott IG, Mathisson J, Rizk D, Trumpower B, Yake D, Williams M, Coulter-Thompson EI, Brent CM, Smith GC, Swor R, Berger DA, Rooney DM, Neumar RW, Friedman CP, Cooke JM, Missel AL. Dowker SR, et al. Among authors: smith gc. J Am Coll Emerg Physicians Open. 2024 Jan 21;5(1):e13100. doi: 10.1002/emp2.13100. eCollection 2024 Feb. J Am Coll Emerg Physicians Open. 2024. PMID: 38260004 Free PMC article.
1,113 results