Boztuǧ, Kaan: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Pazmandi, Julia, Kalinichenko, Artem, Ardy, Rico Chandra, Boztug, Kaan

Journal:

Immunological Reviews

Year:

2019

Language:

english

File:

PDF, 1.32 MB

english, 2019

2

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

Kaan Boztug, Philip S. Rosenberg, Marie Dorda, Siddharth Banka, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns, Jeffrey W. Innis, Zekai Avci, Hung Chi Tran, Isabelle Pellier, Paolo Pierani, Rac

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

3

ASCIA-P69: A NOVEL AICDA MUTATION IN A CASE OF AUTOSOMAL RECESSIVE HYPER-IGM SYNDROME, GROWTH HORMONE DEFICIENCY AND AUTOIMMUNITY

Kashef, Sara, Fazel, Ali, Aleyasin, Soheila, Harsini, Sara, Karamizadeh, Zohreh, Zoghi, Samaneh, Flores, Stefanie Klaver, Boztug, Kaan, Rezaei, Nima

Journal:

Internal Medicine Journal

Year:

2016

Language:

english

File:

PDF, 67 KB

english, 2016

4

Intraocular Langerhans cell histiocytosis in a neonate resulting in bilateral loss of vision

Kaan Boztug, Kwabena Frimpong-Ansah, Vasanta Rao Nanduri, Joanna Lawson, Isabelle Russell-Eggitt, Penelope Brock

Journal:

Pediatric Blood & Cancer

Year:

2006

Language:

english

File:

PDF, 83 KB

english, 2006

5

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

Karaca, Neslihan Edeer, Aksu, Guzide, Ulusoy, Ezgi, Aksoylar, Serap, Gozmen, Salih, Genel, Ferah, Akarcan, Sanem, Gulez, Nesrin, Hirschmugl, Tatjana, Kansoy, Savas, Boztug, Kaan, Kutukculer, Necil

Journal:

Case Reports in Immunology

Year:

2016

Language:

english

File:

PDF, 2.78 MB

english, 2016

6

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, Wolfgang, Urban, Christian, Ulreich, Raphael, Sperl, Daniela, Karastaneva, Anna, Strenger, Volker, Lackner, Herwig, Boztug, Kaan, Albert, Michael H., Benesch, Martin, Seidel, Markus G.

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 673 KB

english, 2018

7

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia

Cipe, Funda Erol, Aydogmus, Cigdem, Serwas, Nina K., Keskindemirci, Gonca, Boztuğ, Kaan

Journal:

Journal of Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 626 KB

english, 2018

8

Gene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis

Braun, Christian Joerg, Witzel, Maximilian, Paruzynski, Anna, Boztug, Kaan, Kalle, Christof von, Schmidt, Manfred, Klein, Christoph

Journal:

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

9

Inflammatory Bowel Disease With Lethal Disease Course Caused by a Nonsense Mutation in BIRC4 Encoding X-Linked Inhibitor of Apoptosis Protein (XIAP)

Beşer, Ömer F., Conde, Cecilia D., Kutlu, Tufan, Çullu Çokuğraş, Fügen, Boztuğ, Kaan, Erkan, Tülay

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2016

Language:

english

File:

PDF, 498 KB

english, 2016

10

G6PC3 Deficiency

Kiykim, Ayca, Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet O., Ogulur, Ismail, Bozkurt, Suheyla, Ataizi, Cigdem C., Boztug, Kaan, Barlan, Isil B.

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2015

Language:

english

File:

PDF, 375 KB

english, 2015

11

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature

Esenboga, Saliha, Akal, Can, Karaatmaca, Betül, Erman, Baran, Dogan, Sibel, Orhan, Diclehan, Boztug, Kaan, Ayvaz, Deniz, Tezcan, İlhan

Journal:

Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 2.64 MB

english, 2018

12

Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3

Ban, Sol A., Salzer, Elisabeth, Eibl, Martha M., Linder, Angela, Geier, Christoph B., Santos-Valente, Elisangela, Garncarz, Wojciech, Lion, Thomas, Ott, Raphael, Seelbach, Christoph, Boztug, Kaan, Wol

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 1.25 MB

english, 2014

13

Differenzialdiagnose der Anämien; Differential Diagnosis of Anemia;

Egger, Markus, Matiqi, Teresa, Boztug, Kaan, Kager, Leo

Journal:

Pädiatrie & Pädologie

Year:

2019

Language:

german

File:

PDF, 1.30 MB

german, 2019

14

Trichuris suisinduces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis

Kooij, Gijs, Braster, Rens, Koning, Jasper J., Laan, Lisa C., van Vliet, Sandra J., Los, Tamara, Eveleens, Anne Marieke, van der Pol, Susanne M. A., Förster-Waldl, Elisabeth, Boztug, Kaan, Belot, Alex

Journal:

Acta Neuropathologica Communications

Year:

2015

Language:

english

File:

PDF, 3.29 MB

english, 2015

15

Genetic etiologies of severe congenital neutropenia

Boztug, Kaan, Klein, Christoph

Journal:

Current Opinion in Pediatrics

Year:

2011

Language:

english

File:

PDF, 356 KB

english, 2011

16

Differenzialdiagnose der Anämien; Differential Diagnosis of Anemia;

Egger, Markus, Matiqi, Teresa, Boztug, Kaan, Kager, Leo

Journal:

Pädiatrie & Pädologie

Year:

2019

File:

PDF, 1.30 MB

2019

17

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Klein, Christoph, Grudzien, Magda, Appaswamy, Giridharan, Germeshausen, Manuela, Sandrock, Inga, Schäffer, Alejandro A, Rathinam, Chozhavendan, Boztug, Kaan, Schwinzer, Beate, Rezaei, Nima

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 544 KB

english, 2006

18

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

Kiykim, Ayca, Ogulur, Ismail, Baris, Safa, Salzer, Elisabeth, Karakoc-Aydiner, Elif, Ozen, Ahmet Oguzhan, Garncarz, Wojciech, Hirschmugl, Tatjana, Krolo, Ana, Yucelten, Ayse Deniz, Boztug, Kaan, Barla

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 735 KB

english, 2015

19

Wiener Zentrum für seltene und nicht diagnostizierte Erkrankungen; Centre for rare and undiagnosed diseases in Vienna;

Journal:

Pädiatrie & Pädologie

Year:

2015

Language:

german

File:

PDF, 282 KB

german, 2015

20

EXPANDING THE INTERACTOME OF THE NON-CANONICAL NF-κB SIGNALING PATHWAY

Willmann, Katharina L., Sacco, Roberto, Martins, Rui, Garncarz, Wojciech, Krolo, Ana, Knapp, Sylvia, Bennett, Keiryn L., Boztug, Kaan

Journal:

Journal of Proteome Research

Year:

2016

Language:

english

File:

PDF, 3.64 MB

english, 2016

21

EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease

Maas, Constantin, Lüftinger, Roswitha, Krois, Wilfried, Matthes-Martin, Susanne, Bayer, Guenther, Boztug, Kaan, Metzelder, Martin

Journal:

Pediatric Blood & Cancer

Year:

2018

Language:

english

File:

PDF, 364 KB

english, 2018

22

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

Salzer, Elisabeth, Santos-Valente, Elisangela, Keller, Bärbel, Warnatz, Klaus, Boztug, Kaan

Journal:

Journal of Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 552 KB

english, 2016

23

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma

Hauck, Fabian, Magg, Thomas, Krolo, Ana, Bilic, Ivan, Hirschmugl, Tatjana, Laass, Martin, Rösen-Wolff, Angela, Luksch, Hella, Boztug, Kaan, Roesler, Joachim

Journal:

Klinische Pädiatrie

Year:

2017

Language:

english

File:

PDF, 592 KB

english, 2017

24

Thoracic Actinomycosis With Infiltration of the Spine

Ronceray, Leila, Friesenbichler, Waltraud, Hutter, Caroline, Lakatos, Karoly, Krizmanich, Wolfgang, Amann, Gabriele, Boztug, Kaan, Kager, Leo, Mann, Georg, Attarbaschi, Andishe

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2017

Language:

english

File:

PDF, 227 KB

english, 2017

25

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

Yucel, Esra, Karakus, Ibrahim Serhat, Krolo, Ana, Kiykim, Ayca, Heredia, Raul Jimenez, Tamay, Zeynep, Cipe, Funda Erol, Karakoc-Aydiner, Elif, Ozen, Ahmet, Karaman, Serap, Boztug, Kaan, Baris, Safa

Journal:

Journal of Clinical Immunology

Year:

2020

File:

PDF, 682 KB

2020

26

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, Leo, Minkov, Milen, Zeitlhofer, Petra, Fahrner, Bernhard, Ratzinger, Franz, Boztug, Kaan, Dossenbach-Glaninger, Astrid, Haas, Oskar A.

Journal:

Pediatric Blood & Cancer

Year:

2016

Language:

english

File:

PDF, 67 KB

english, 2016

27

Band 3 null VIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis

Kager, Leo, Bruce, Lesley J., Zeitlhofer, Petra, Flatt, Joanna F., Maia, Tabita M., Ribeiro, M. Leticia, Fahrner, Bernhard, Fritsch, Gerhard, Boztug, Kaan, Haas, Oskar A.

Journal:

Pediatric Blood & Cancer

Year:

2016

Language:

english

File:

PDF, 378 KB

english, 2016

28

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

Şıklar, Zeynep, de Franco, Elisa, Johnson, Matthew, Flanagan, Sarah, Ellard, Sian, Ceylaner, Serdar, Boztuğ, Kaan, Doğu, Figen, İkincioğulları, Aydan, Kuloğlu, Zarife, Kansu, Aydan, Berberoğlu, Merih

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2017

Language:

english

File:

PDF, 195 KB

english, 2017

29

Novel genetic etiologies of severe congenital neutropenia

Kaan Boztug, Christoph Klein

Journal:

Current Opinion in Immunology

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

30

Congenital Neutropenia Syndromes

Kaan Boztug, Karl Welte, Cornelia Zeidler, Christoph Klein

Journal:

Immunology and Allergy Clinics of North America

Year:

2008

Language:

english

File:

PDF, 429 KB

english, 2008

31

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

32

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group

Bomken, Simon, van der Werff Ten Bosch, Jutte, Attarbaschi, Andishe, Bacon, Chris M., Borkhardt, Arndt, Boztug, Kaan, Fischer, Ute, Hauck, Fabian, Kuiper, Roland P., Lammens, Tim, Loeffen, Jan, Neven,

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 784 KB

english, 2018

33

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Boztug, Kaan, Järvinen, Päivi M, Salzer, Elisabeth, Racek, Tomas, Mönch, Sebastian, Garncarz, Wojciech, Gertz, E Michael, Schäffer, Alejandro A, Antonopoulos, Aristotelis, Haslam, Stuart M, Schieck, L

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.79 MB

english, 2014

34

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

Glocker, Erik-Oliver, Kotlarz, Daniel, Boztug, Kaan, Gertz, E. Michael, Schäffer, Alejandro A., Noyan, Fatih, Perro, Mario, Diestelhorst, Jana, Allroth, Anna, Murugan, Dhaarini, Hätscher, Nadine, Pfei

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 2.05 MB

english, 2009

35

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly

Pfajfer, Laurène, Seidel, Markus G., Houmadi, Raïssa, Rey-Barroso, Javier, Hirschmugl, Tatjana, Salzer, Elisabeth, Antón, Inés María, Urban, Christian, Schwinger, Wolfgang, Boztug, Kaan, Dupré, Loïc

Journal:

Year:

2017

Language:

english

File:

PDF, 4.28 MB

english, 2017

36

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity

Edwards, Emily S.J., Bier, Julia, Cole, Theresa S., Wong, Melanie, Hsu, Peter, Berglund, Lucinda J., Boztug, Kaan, Lau, Anthony, Gostick, Emma, Price, David A., O’Sullivan, Michael, Meyts, Isabelle, C

Journal:

Journal of Allergy and Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 3.31 MB

english, 2018

37

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

Hoeger, Birgit, Serwas, Nina Kathrin, Boztug, Kaan

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 1.86 MB

english, 2018

38

Rheumatological manifestations in inborn errors of immunity

Köstel Bal, Sevgi, Pazmandi, Julia, Boztug, Kaan, Özen, Seza

Journal:

Pediatric Research

Year:

2019

Language:

english

File:

PDF, 532 KB

english, 2019

39

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation

Kutluǧ, Şeyhan, Boztuǧ, Kaan, Yıldıran, Alişan

Journal:

Central European Journal of Immunology

Year:

2019

File:

PDF, 401 KB

2019

40

Treatment and management of primary antibody deficiency: German interdisciplinary evidenceâbased consensus guideline

Hanitsch, Leif, Baumann, Ulrich, Boztug, Kaan, BurkhardâMeier, Ulrike, Fasshauer, Maria, Habermehl, Pirmin, Hauck, Fabian, Klock, Gerd, Liese, Johannes, Meyer, Oliver, MÃ¼ller, Rainer, Pachlopnikâ

Journal:

European Journal of Immunology

Year:

2020

File:

PDF, 1024 KB

2020

41

Interleukin-2-Inducible T-Cell Kinase (ITK) Deficiency - Clinical and Molecular Aspects

Ghosh, Sujal, Bienemann, Kirsten, Boztug, Kaan, Borkhardt, Arndt

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 189 KB

english, 2014

42

Su1800 CHARACTERIZING THE ROLE OF GAIN-OF-FUNCTION SYK MUTATIONS IN THE PATHOGENESIS OF INFLAMMATORY DISEASES.

Mehta, Meera, Wang, Lin, Aschenbrenner, Dominik, Warner, Neil E., Guo, Conghui, Li, Qi, Pan, Jie, Mulder, Daniel, Snapper, Scott B., Klein, Christoph, Boztug, Kaan, Li, Dali, Huang, Ying, Uhlig, Holm,

Journal:

Gastroenterology

Year:

2020

File:

PDF, 934 KB

2020

43

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Seidel, Markus G., Boztug, Kaan, Haas, Oskar A.

Journal:

Journal of Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 281 KB

english, 2016

44

Gene therapy for Wiskott–Aldrich syndrome

Witzel, Maximilian Georg Wolfgang, Braun, Christian Joerg, Boztug, Kaan, Klein, Christoph

Journal:

Expert Opinion on Orphan Drugs

Year:

2013

Language:

english

File:

PDF, 628 KB

english, 2013

45

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation

Kutluǧ, Şeyhan, Boztuǧ, Kaan, Yıldıran, Alişan

Journal:

Central European Journal of Immunology

Year:

2019

Language:

english

File:

PDF, 401 KB

english, 2019

46

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

Daniel Kotlarz, Rita Beier, Dhaarini Murugan, Jana Diestelhorst, Ole Jensen, Kaan Boztug, Dietmar Pfeifer, Hans Kreipe, Eva–Doreen Pfister, Ulrich Baumann, Jacek Puchalka, Jens Bohne, Odul Egritas, Bu

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 1.59 MB

english, 2012

47

Genetics and Pathophysiology of Severe Congenital Neutropenia Syndromes Unrelated to Neutrophil Elastase

Boztug, Kaan, Klein, Christoph

Journal:

Hematology/Oncology Clinics of North America

Year:

2013

Language:

english

File:

PDF, 154 KB

english, 2013

48

Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features

SÃ¼leyman, Merve, Tan, ÃaÄman, Uner, Aysegul, Ä°nkaya, ÃaÄkan, AytaÃ§, Selin, BÃ¼yÃ¼kaÅÄ±k, Yahya, Boztug, Kaan, Tezcan, Ä°lhan, Cagdas, Deniz

Journal:

Immunological Investigations

Year:

2020

File:

PDF, 2.73 MB

2020

49

Stem-Cell Gene Therapy for the Wiskott–Aldrich Syndrome

Boztug, Kaan, Schmidt, Manfred, Schwarzer, Adrian, Banerjee, Pinaki P., Díez, Inés Avedillo, Dewey, Ricardo A., Böhm, Marie, Nowrouzi, Ali, Ball, Claudia R., Glimm, Hanno, Naundorf, Sonja, Kühlcke, Kl

Journal:

Boston Medical and Surgical Journal

Year:

2010

Language:

english

File:

PDF, 1.34 MB

english, 2010

50

Development of Novel Efficient SIN Vectors with Improved Safety Features for Wiskott–Aldrich Syndrome Stem Cell Based Gene Therapy

Avedillo Díez, Inés, Zychlinski, Daniela, Coci, Emanuele G., Galla, Melanie, Modlich, Ute, Dewey, Ricardo A., Schwarzer, Adrian, Maetzig, Tobias, Mpofu, Nonsikelelo, Jaeckel, Elmar, Boztug, Kaan, Baum

Journal:

Molecular Pharmaceutics

Year:

2011

Language:

english

File:

PDF, 1.30 MB

english, 2011

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски