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Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.
Yılmaz M, Çağdaş D, Grandin V, Altıntaş DU, Tezcan İ, de Saint Basile G, Sanal Ö. Yılmaz M, et al. Among authors: sanal o. Pediatr Allergy Immunol. 2014 Dec;25(8):817-9. doi: 10.1111/pai.12285. Epub 2014 Oct 31. Pediatr Allergy Immunol. 2014. PMID: 25283056 No abstract available.
Mutations of chronic granulomatous disease in Turkish families.
Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D. Köker MY, et al. Among authors: sanal o. Eur J Clin Invest. 2007 Jul;37(7):589-95. doi: 10.1111/j.1365-2362.2007.01828.x. Eur J Clin Invest. 2007. PMID: 17576211
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Quartier P, Bustamante J, Sanal O, Plebani A, Debré M, Deville A, Litzman J, Levy J, Fermand JP, Lane P, Horneff G, Aksu G, Yalçin I, Davies G, Tezcan I, Ersoy F, Catalan N, Imai K, Fischer A, Durandy A. Quartier P, et al. Among authors: sanal o. Clin Immunol. 2004 Jan;110(1):22-9. doi: 10.1016/j.clim.2003.10.007. Clin Immunol. 2004. PMID: 14962793
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Revy P, et al. Among authors: sanal o. Cell. 2000 Sep 1;102(5):565-75. doi: 10.1016/s0092-8674(00)00079-9. Cell. 2000. PMID: 11007475 Free article.
211 results