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Page 1
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: reisli i. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.
Erdem S, Haskologlu S, Haliloglu Y, Celikzencir H, Arik E, Keskin O, Eltan SB, Yucel E, Canatan H, Avcilar H, Yilmaz E, Ozcan A, Unal E, Karakukcu M, Celiksoy MH, Kilic SS, Demir A, Genel F, Gulez N, Koker MY, Ozen AO, Baris S, Metin A, Guner SN, Reisli I, Keles S, Dogu EF, Ikinciogullari KA, Eken A. Erdem S, et al. Among authors: reisli i. Clin Immunol. 2023 Aug;253:109691. doi: 10.1016/j.clim.2023.109691. Epub 2023 Jul 9. Clin Immunol. 2023. PMID: 37433423
An antibody-deficiency syndrome due to mutations in the CD19 gene.
van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL. van Zelm MC, et al. Among authors: reisli i. N Engl J Med. 2006 May 4;354(18):1901-12. doi: 10.1056/NEJMoa051568. N Engl J Med. 2006. PMID: 16672701 Free article.
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM. Hagleitner MM, et al. Among authors: reisli i. J Med Genet. 2008 Feb;45(2):93-9. doi: 10.1136/jmg.2007.053397. Epub 2007 Sep 24. J Med Genet. 2008. PMID: 17893117
154 results