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Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, Hagel C, Ballmaier M, Klusmann JH, Niedermayer A, Pannicke U, Enders A, Dückers G, Siepermann K, Hempel J, Schwarz K, Viemann D. Niehues T, et al. Among authors: ozgur tt. Eur J Immunol. 2020 Jul;50(7):1078-1080. doi: 10.1002/eji.201948504. Epub 2020 Apr 20. Eur J Immunol. 2020. PMID: 32181500 Free article.
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. Cagdas D, et al. Among authors: ozgur tt. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9. J Clin Immunol. 2018. PMID: 29744787
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacin P, Galal N, Adeli M, Aldave-Becerra JC, Al-Ddafari MS, Ardenyz Ö, Atkinson TP, Kut FB, Çelmeli F, Rees H, Kilic SS, Kirovski I, Klein C, Kobbe R, Korganow AS, Lilic D, Lunt P, Makwana N, Metin A, Özgür TT, Karakas AA, Seneviratne S, Sherkat R, Sousa AB, Unal E, Patiroglu T, Wahn V, von Bernuth H, Whiteford M, Doffinger R, Jouhadi Z, Grimbacher B. Frede N, et al. Among authors: ozgur tt. J Clin Immunol. 2021 Nov;41(8):1804-1838. doi: 10.1007/s10875-021-01086-4. Epub 2021 Aug 14. J Clin Immunol. 2021. PMID: 34390440 Free PMC article.
23 results