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Ilhan Tezcan
Ilhan Tezcan
Professor of Pediatrics, Hacettepe University
Verified email at hacettepe.edu.tr
Title
Cited by
Cited by
Year
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ...
Cell 102 (5), 565-575, 2000
19652000
Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency
D Moshous, I Callebaut, R De Chasseval, B Corneo, M Cavazzana-Calvo, ...
Cell 105 (2), 177-186, 2001
10962001
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
X Zhang, D Bogunovic, B Payelle-Brogard, V Francois-Newton, SD Speer, ...
Nature 517 (7532), 89-93, 2015
5312015
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
G Ménasché, CH Ho, O Sanal, J Feldmann, I Tezcan, F Ersoy, ...
The Journal of clinical investigation 112 (3), 450-456, 2003
3852003
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ...
The American journal of human genetics 83 (1), 64-76, 2008
3402008
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
P Quartier, J Bustamante, O Sanal, A Plebani, M Debré, A Deville, ...
Clinical immunology 110 (1), 22-29, 2004
3082004
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients
SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ...
Journal of clinical immunology 35, 189-198, 2015
2992015
A DNA-PKcs mutation in a radiosensitive TB SCID patient inhibits Artemis activation and nonhomologous end-joining
M Van Der Burg, H IJspeert, NS Verkaik, T Turul, WW Wiegant, ...
The Journal of clinical investigation 119 (1), 91-98, 2009
2982009
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ...
Human molecular genetics 10 (17), 1767-1773, 2001
2682001
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency
MP Cicalese, F Ferrua, L Castagnaro, R Pajno, F Barzaghi, S Giannelli, ...
Blood, The Journal of the American Society of Hematology 128 (1), 45-54, 2016
2452016
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
MY Köker, Y Camcıoğlu, K Van Leeuwen, SŞ Kılıç, I Barlan, M Yılmaz, ...
Journal of allergy and clinical immunology 132 (5), 1156-1163. e5, 2013
2122013
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
KR Engelhardt, ME Gertz, S Keles, AA Schäffer, EC Sigmund, C Glocker, ...
Journal of Allergy and Clinical Immunology 136 (2), 402-412, 2015
1972015
ISG15 deficiency and increased viral resistance in humans but not mice
SD Speer, Z Li, S Buta, B Payelle-Brogard, L Qian, F Vigant, E Rubino, ...
Nature communications 7 (1), 11496, 2016
1812016
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
E Salzer, D Cagdas, M Hons, EM Mace, W Garncarz, ÖY Petronczki, ...
Nature immunology 17 (12), 1352-1360, 2016
1332016
Life-threatening neurological complications after bone marrow transplantation in children
D Uckan, M Cetin, I Yigitkanli, I Tezcan, M Tuncer, D Karasimav, KK Oguz, ...
Bone marrow transplantation 35 (1), 71-76, 2005
1312005
Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases
SŞ Kiliç, İ Tezcan, Ö Sanal, A Metin, F Ersoy
Pediatrics International 42 (6), 647-650, 2000
1312000
Two genes are responsible for Griscelli syndrome at the same 15q21 locus
E Pastural, F Ersoy, N Yalman, N Wulffraat, E Grillo, F Ozkinay, I Tezcan, ...
Genomics 63 (3), 299-306, 2000
1312000
Clinical features of candidiasis in patients with inherited interleukin 12 receptor β1 deficiency
M Ouederni, O Sanal, A Ikincioğullari, I Tezcan, F Dogu, I Sologuren, ...
Clinical Infectious Diseases 58 (2), 204-213, 2014
1202014
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
T Turul, I Tezcan, H Artac, S de Bruin-Versteeg, BH Barendregt, I Reisli, ...
European journal of pediatrics 168, 87-93, 2009
1202009
Additional diverse findings expand the clinical presentation of DOCK8 deficiency
O Sanal, H Jing, T Ozgur, D Ayvaz, DM Strauss-Albee, S Ersoy-Evans, ...
Journal of clinical immunology 32, 698-708, 2012
1122012
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