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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Among authors: boztug k. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
Kager L, Minkov M, Zeitlhofer P, Fahrner B, Ratzinger F, Boztug K, Dossenbach-Glaninger A, Haas OA. Kager L, et al. Among authors: boztug k. Pediatr Blood Cancer. 2016 May;63(5):914-6. doi: 10.1002/pbc.25878. Epub 2016 Jan 5. Pediatr Blood Cancer. 2016. PMID: 26728349
Thoracic Actinomycosis With Infiltration of the Spine: An Oncological Pitfall.
Ronceray L, Friesenbichler W, Hutter C, Lakatos K, Krizmanich W, Amann G, Boztug K, Kager L, Mann G, Attarbaschi A. Ronceray L, et al. Among authors: boztug k. J Pediatr Hematol Oncol. 2018 Aug;40(6):468-471. doi: 10.1097/MPH.0000000000001035. J Pediatr Hematol Oncol. 2018. PMID: 29240031
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L, Jimenez Heredia R, Hirschmugl T, Dmytrus J, Krolo A, Müller H, Bock C, Zeitlhofer P, Dworzak M, Mann G, Holter W, Haas O, Boztug K. Kager L, et al. Among authors: boztug k. Br J Haematol. 2018 Jul;182(2):251-258. doi: 10.1111/bjh.15389. Epub 2018 May 24. Br J Haematol. 2018. PMID: 29797310 Free PMC article.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W, Berner J, Svaton M, Jimenez-Heredia R, Segarra-Roca A, Frohne A, Guiliani S, Rouhani D, Eder SK, Rottal A, Trapin D, Scheuchenstuhl A, Pickl WF, Simonitsch-Klupp I, Kager L, Boztug K. Novak W, et al. Among authors: boztug k. Br J Haematol. 2023 Nov;203(4):678-683. doi: 10.1111/bjh.19061. Epub 2023 Aug 30. Br J Haematol. 2023. PMID: 37646304
The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.
Schwinger W, Urban C, Ulreich R, Sperl D, Karastaneva A, Strenger V, Lackner H, Boztug K, Albert MH, Benesch M, Seidel MG. Schwinger W, et al. Among authors: boztug k. Front Immunol. 2018 Nov 2;9:2554. doi: 10.3389/fimmu.2018.02554. eCollection 2018. Front Immunol. 2018. PMID: 30450104 Free PMC article. Review.
182 results