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278 results

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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: loirat c. 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: loirat c. Hum Mutat. 2007 Mar;28(3):273-83. doi: 10.1002/humu.20432. Hum Mutat. 2007. PMID: 17089404
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: loirat c. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392
Mycophenolate mofetil for steroid-dependent nephrotic syndrome: a phase II Bayesian trial.
Baudouin V, Alberti C, Lapeyraque AL, Bensman A, André JL, Broux F, Cailliez M, Decramer S, Niaudet P, Deschênes G, Jacqz-Aigrain E, Loirat C. Baudouin V, et al. Among authors: loirat c. Pediatr Nephrol. 2012 Mar;27(3):389-96. doi: 10.1007/s00467-011-2006-7. Epub 2011 Sep 28. Pediatr Nephrol. 2012. PMID: 21947272 Clinical Trial.
Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome.
Dragon-Durey MA, Sethi SK, Bagga A, Blanc C, Blouin J, Ranchin B, André JL, Takagi N, Cheong HI, Hari P, Le Quintrec M, Niaudet P, Loirat C, Fridman WH, Frémeaux-Bacchi V. Dragon-Durey MA, et al. Among authors: loirat c. J Am Soc Nephrol. 2010 Dec;21(12):2180-7. doi: 10.1681/ASN.2010030315. Epub 2010 Nov 4. J Am Soc Nephrol. 2010. PMID: 21051740 Free PMC article.
Darbepoetin, effective treatment of anaemia in paediatric patients with chronic renal failure.
André JL, Deschênes G, Boudailliez B, Broux F, Fischbach M, Gagnadoux MF, Horen B, Lahoche-Manucci A, Macher MA, Roussel B, Tsimaratos M, Loirat C. André JL, et al. Among authors: loirat c. Pediatr Nephrol. 2007 May;22(5):708-14. doi: 10.1007/s00467-006-0402-1. Epub 2007 Jan 11. Pediatr Nephrol. 2007. PMID: 17216497 Free PMC article. Clinical Trial.
278 results