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Journal Articles

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Brief Report
Ido Somekh, Marini Thian, David Medgyesi, Nesrin Gülez, Thomas Magg, Alejandro Gallón Duque, Tali Stauber, Atar Lev, Ferah Genel, Ekrem Unal, Amos J. Simon, Yu Nee Lee, Artem Kalinichenko, Jasmin Dmytrus, Michael J. Kraakman, Ginette Schiby, Meino Rohlfs, Jeffrey M. Jacobson, Erdener Özer, Ömer Akcal, Raffaele Conca, Türkan Patiroglu, Musa Karakukcu, Alper Ozcan, Tala Shahin, Eliana Appella, Megumi Tatematsu, Catalina Martinez-Jaramillo, Ivan K. Chinn, Jordan S. Orange, Claudia Milena Trujillo-Vargas, José Luis Franco, Fabian Hauck, Raz Somech, Christoph Klein, Kaan Boztug
Journal: Blood
Blood (2019) 134 (18): 1510–1516.
https://doi.org/10.1182/blood.2019000644
Published: 2019
Includes: Supplemental data
Journal Articles

Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling

Ah Ram Kim, PhD, Jacob C Ulirsch, Stephan Wilmes, Ekrem Unal, Ignacio Moraga, Musa Karakukcu, Daniel Yuan, Shideh Kazerounian, Namrata Gupta, Stacey B Gabriel, PhD, Eric S Lander, PhD, Turkan Patiroglu, Alper Ozcan, Mehmet Ozdemir, Christopher Garcia, Jacob Piehler, Hanna Gazda, MD PhD, Daryl Klein, Vijay G Sankaran, MD PhD
Journal: Blood
Blood (2016) 128 (22): 331.
https://doi.org/10.1182/blood.V128.22.331.331
Published: 2016
Journal Articles

Turkish National Severe Congenital Neutropenia Registry

Deniz Yilmaz Karapinar, Zeynep Karakas, Turkan Patıroglu, Ayse Metin, MD PhD, Umran Caliskan, Tiraje Celkan, Baris Yilmaz, Tuba H. Karapinar, Serap Karaman, Burcu Akıncı, Himmet Haluk Akar, Huseyin Tokgoz, Gul Nihal Ozdemir, Ayça Aslan Kıykım, Yurdanur Kılınç, Yesim Oymak, MD, Lale Olcay, Ozcan Bor, Zuhal Keskin YILDIRIM, Muge Gokce, Erol Erduran, Dilber Talia Ileri, Yusuf Ziya Aral, MD, Ali Bay, Berna Atabay, Zühre Kaya, Associate Professor, Hüseyin Onay, Ferda Özkınay, Bilge Ozsait Selçuk, Ugur Ozbek, MD PhD, Gulsun Tezcan Karasu, Sebnem Yilmaz Bengoa, Akif Yesilipek, MD
Journal: Blood
Blood (2016) 128 (22): 4916.
https://doi.org/10.1182/blood.V128.22.4916.4916
Published: 2016
Journal Articles

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination

Hanna IJspeert, Jacob Rozmus, Klaus Schwarz, René L. Warren, David van Zessen, Robert A. Holt, Ingrid Pico-Knijnenburg, Erik Simons, Isabel Jerchel, Angela Wawer, Myriam Lorenz, Turkan Patıroğlu, Himmet Haluk Akar, Ricardo Leite, Nicole S. Verkaik, Andrew P. Stubbs, Dik C. van Gent, Jacques J. M. van Dongen, Mirjam van der Burg
Journal: Blood
Blood (2016) 128 (5): 650–659.
https://doi.org/10.1182/blood-2016-02-701029
Published: 2016
Includes: Supplemental data
Journal Articles

Safety and Efficacy of Nonacog Beta Pegol (N9-GP) for Prophylaxis and Treatment of Bleeding Episodes in Previously-Treated Patients with Hemophilia B: Results from an Extension Trial

Guy Young, MD, Peter W. Collins, MD, Ramin Tehranchi, MD, PhD, Ampaiwan Chuansumrit, Hideji Hanabusa, MD, Steven R. Lentz, MD PhD, Johnny N. Mahlangu, MBBCh, MMed, FCPath, Evelien Mauser-Bunschoten, Claude Negrier, Johannes Oldenburg, MD PhD, Turkan Patiroglu, MD, Elena Santagostino, MD PhD, Marek Zak, Fara Abdul Karim
Journal: Blood
Blood (2014) 124 (21): 2846.
https://doi.org/10.1182/blood.V124.21.2846.2846
Published: 2014
Journal Articles

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Alexa Triot, Päivi M. Järvinen, Juan I. Arostegui, Dhaarini Murugan, Naschla Kohistani, José Luis Dapena Díaz, Tomas Racek, Jacek Puchałka, E. Michael Gertz, Alejandro A. Schäffer, Daniel Kotlarz, Dietmar Pfeifer, Cristina Díaz de Heredia Rubio, Mehmet Akif Ozdemir, Turkan Patiroglu, Musa Karakukcu, José Sánchez de Toledo Codina, Jordi Yagüe, Ivo P. Touw, Ekrem Unal, Christoph Klein
Journal: Blood
Blood (2014) 123 (24): 3811–3817.
https://doi.org/10.1182/blood-2013-11-535419
Published: 2014
Includes: Supplemental data
Journal Articles

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, MD, Tomas Racek, PhD, Jacek Puchalka, Jose Luis Dapena Díaz, MD, Naschla Kohistani, MD, E. Michael Gertz, PhD, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, MD, Mehmet A. Ozdemir, MD, Turkan Patiroglu, MD, Musa Karakukcu, MD, José Sanchez de Toledo Codina, MD, Jordi Yagüe, MD, PhD, Ekrem Unal, Christoph Klein, MD PhD
Journal: Blood
Blood (2013) 122 (21): 1025.
https://doi.org/10.1182/blood.V122.21.1025.1025
Published: 2013
Journal Articles

Familial Hemophagocytic Lymphohistiocytosis Type IV: Possible Founder Effect in Syntaxin 11 Gene Common Mutation Endemic to Turkish Population

Gunay Balta, Umran Caliskan, Elif Guler, Turkan Patiroglu, Ahmet F. Oner, Aytemiz Gurgey
Journal: Blood
Blood (2008) 112 (11): 1259.
https://doi.org/10.1182/blood.V112.11.1259.1259
Published: 2008
Journal Articles

Molecular Characterization of a Prototype Family Harboring Two Genomic Instability Disorders: Ataxia Telangiectasia and Fanconi Anemia.

Gunay Balta, Turkan Patiroglu, Fatma Gumruk, Ozden Sanal, Aytemiz Gurgey, Cigdem Altay
Journal: Blood
Blood (2007) 110 (11): 1680.
https://doi.org/10.1182/blood.V110.11.1680.1680
Published: 2007