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1

Next-generation sequencing of the Chinese hamster ovary microRNA transcriptome: Identification, annotation and profiling of microRNAs as targets for cellular engineering

Matthias Hackl, Tobias Jakobi, Jochen Blom, Daniel Doppmeier, Karina Brinkrolf, Rafael Szczepanowski, Stephan H. Bernhart, Christian Höner zu Siederdissen, Juan A. Hernandez Bort, Matthias Wieser, Ren

Journal:

Journal of Biotechnology

Année:

2011

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2011

2

Newborn screening for primary immunodeficiencies: beyond SCID and XLA

Stephan Borte, Ning Wang, Sólveig Óskarsdóttir, Ulrika von Döbeln, Lennart Hammarström

Journal:

Annals of the New York Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 660 KB

english, 2011

3

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Borte, Stephan, Celiksoy, Mehmet Halil, Menzel, Volker, Ozkaya, Ozan, Ozen, Fatma Zeynep, Hammarström, Lennart, Yildiran, Alisan

Journal:

Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2014

4

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott–Aldrich syndrome

Borte, Stephan, Fasth, Anders, von Döbeln, Ulrika, Winiarski, Jacek, Hammarström, Lennart

Journal:

Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 399 KB

english, 2014

5

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

Abolhassani, Hassan, Edwards, Emily S.J., Ikinciogullari, Aydan, Jing, Huie, Borte, Stephan, Buggert, Marcus, Du, Likun, Matsuda-Lennikov, Mami, Romano, Rosa, Caridha, Rozina, Bade, Sangeeta, Zhang, Y

Journal:

Journal of Experimental Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2017

6

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

Hou, Tie Zheng, Olbrich, Peter, Soto, Jose Manuel Lucena, Sanchez, Berta, Moreno, Paula Sanchez, Borte, Stephan, Stauss, Hans J., Burns, Siobhan O., Walker, Lucy S.K., Pan-Hammarström, Qiang, Hammarst

Journal:

Clinical Immunology

Année:

2018

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2018

7

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

Speckmann, Carsten, Neumann, Carla, Borte, Stephan, la Marca, Giancarlo, Sass, Jörn Oliver, Wiech, Elisabeth, Fisch, Paul, Schwarz, Klaus, Buchholz, Bernd, Schlesier, Michael, Felgentreff, Kerstin, Gr

Journal:

Journal of Allergy and Clinical Immunology

Année:

2012

Langue:

english

Fichier:

PDF, 251 KB

english, 2012

8

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases

Verstegen, Ruud H.J., Borte, Stephan, Bok, Levinus A., van Zwieten, Paul H.Th., von Döbeln, Ulrika, Hammarström, Lennart, de Vries, Esther

Journal:

Journal of Allergy and Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 181 KB

english, 2014

9

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

Pannicke, Ulrich, Baumann, Bernd, Fuchs, Sebastian, Henneke, Philipp, Rensing-Ehl, Anne, Rizzi, Marta, Janda, Ales, Hese, Katrin, Schlesier, Michael, Holzmann, Karlheinz, Borte, Stephan, Laux, Constan

Journal:

New England Journal of Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 808 KB

english, 2013

10

Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies

Boldt, Andreas, Borte, Stephan, Fricke, Stephan, Kentouche, Karim, Emmrich, Frank, Borte, Michael, Kahlenberg, Franka, Sack, Ulrich

Journal:

Cytometry Part B: Clinical Cytometry

Année:

2014

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2014

11

Reduced quenching and extraction time for mammalian cells using filtration and syringe extraction

Hernández Bort, Juan A., Shanmukam, Vinoth, Pabst, Martin, Windwarder, Markus, Neumann, Laura, Alchalabi, Ali, Krebiehl, Guido, Koellensperger, Gunda, Hann, Stephan, Sonntag, Denise, Altmann, Friedric

Journal:

Journal of Biotechnology

Année:

2014

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2014

12

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

Borte, Stephan, Meeths, Marie, Liebscher, Ines, Krist, Kerstin, Nordenskjöld, Magnus, Hammarström, Lennart, von Döbeln, Ulrika, Henter, Jan-Inge, Bryceson, Yenan T.

Journal:

Journal of Allergy and Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2014

13

Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome

Lingman Framme, Jenny, Borte, Stephan, von Döbeln, Ulrika, Hammarström, Lennart, Óskarsdóttir, Sólveig

Journal:

Journal of Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 466 KB

english, 2014

14

Effective Fast Filtration Method for Metabolomics Studies of Mammalian Cells

Shanmukam, Vinoth, Hernandez-Bort, Juan-Antonio, Hanscho, Michael, Leitner, Christian, Hann, Stephan, Köllensperger, Gunda, Sonntag, Denise, Heel, Christine, Borth, Nicole

Journal:

New Biotechnology

Année:

2014

Langue:

english

Fichier:

PDF, 71 KB

english, 2014

15

Guidelines for newborn screening of primary immunodeficiency diseases

Borte, Stephan, von Döbeln, Ulrika, Hammarström, Lennart

Journal:

Current Opinion in Hematology

Année:

2013

Langue:

english

Fichier:

PDF, 244 KB

english, 2013

16

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

Alkhairy, Omar K., Perez-Becker, Ruy, Driessen, Gertjan J., Abolhassani, Hassan, van Montfrans, Joris, Borte, Stephan, Choo, Sharon, Wang, Ning, Tesselaar, Kiki, Fang, Mingyan, Bienemann, Kirsten, Boz

Journal:

Journal of Allergy and Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2015

17

c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis

Çeliksoy, Mehmet Halil, Borte, Stephan, İkincioğulları, Aydan, Ceyhan Bilgici, Meltem, Karagöz, Filiz, Kalaycı, Ayhan Gazi, Yıldıran, Alişan

Journal:

Turkish Journal of Hematology

Année:

2014

Langue:

english

Fichier:

PDF, 204 KB

english, 2014

18

Nachweis von schweren angeborenen Immundefekten bei Neugeborenen: Diagnostisches Vorgehen bei Screening, Tracking und Follow-up

Borte, Stephan, Borte, Michael, Pöge, Andreas, Sack, Ulrich

Journal:

Laboratoriums Medizin

Année:

2014

Fichier:

PDF, 2.09 MB

2014

19

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

Hauck, Fabian, Blumenthal, Britta, Fuchs, Sebastian, Lenoir, Christelle, Martin, Emmanuel, Speckmann, Carsten, Vraetz, Thomas, Mannhardt-Laakmann, Wilma, Lambert, Nathalie, Gil, Marine, Borte, Stephan

Journal:

Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2015

20

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

Alkhairy, Omar K., Rezaei, Nima, Graham, Robert R., Abolhassani, Hassan, Borte, Stephan, Hultenby, Kjell, Wu, Chenglin, Aghamohammadi, Asghar, Williams, David A., Behrens, Timothy W., Hammarström, Len

Journal:

Journal of Allergy and Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 914 KB

english, 2015

21

Neue Therapieoptionen bei Antikörpermangel

Borte, Michael, Borte, Stephan

Journal:

pädiatrie: Kinder- und Jugendmedizin hautnah

Année:

2012

Langue:

german

Fichier:

PDF, 351 KB

german, 2012

22

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Barbaro, Michela, Ohlsson, Annika, Borte, Stephan, Jonsson, Susanne, Zetterström, Rolf H., King, Jovanka, Winiarski, Jacek, von Döbeln, Ulrika, Hammarström, Lennart

Journal:

Journal of Clinical Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 4.64 MB

english, 2017

23

Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4 + and CD8 + T cells - Clinical applications in PID diagnostics

Bitar, Michael, Boldt, Andreas, Binder, Stefanie, Borte, Michael, Kentouche, Karim, Borte, Stephan, Sack, Ulrich

Journal:

Journal of Allergy and Clinical Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2017

24

Positive KREC newborn screening in a neonate with intrauterine exposure to rituximab

Krüger, Renate, Borte, Stephan, von Weizsäcker, Katharina, Wahn, Volker, Feiterna-Sperling, Cornelia

Journal:

Scandinavian Journal of Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 344 KB

english, 2017

25

KREC levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia

King, Jovanka, Borte, Stephan, Brodszki, Nicholas, von Döbeln, Ulrika, Smith, C. I.Edvard, Hammarströma, Lennart

Journal:

Pediatric Allergy and Immunology

Année:

2018

Langue:

english

Fichier:

PDF, 654 KB

english, 2018

26

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

Schulz, Solveig, Mensah, Martin A., de Vries, Heike, Fröber, Rosemarie, Romeike, Bernd, Schneider, Uwe, Borte, Stephan, Schindler, Detlev, Kentouche, Karim

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 922 KB

english, 2018

27

Placental Transfer of Maternally-Derived IgA Precludes the Use of Guthrie Card Eluates as a Screening Tool for Primary Immunodeficiency Diseases

Borte, Stephan, Janzi, Magdalena, Pan-Hammarström, Qiang, von Döbeln, Ulrika, Nordvall, Lennart, Winiarski, Jacek, Fasth, Anders, Hammarström, Lennart, Gray, Clive M.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 273 KB

english, 2012

28

Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran

Nourizadeh, Maryam, Shakerian, Leila, Borte, Stephan, Fazlollahi, Mohammadreza, Badalzadeh, Mohsen, Houshmand, Massoud, Alizadeh, Zahra, Dalili, Hossein, Rashidi-Nezhad, Ali, Kazemnejad, Anoshirvan, M

Journal:

Scandinavian Journal of Immunology

Année:

2018

Langue:

english

Fichier:

PDF, 573 KB

english, 2018

29

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Zetterström, Rolf, Barbaro, Michela, Ohlsson, Annika, Borte, Stephan, Jonsson, Susanne, Winiarski, Jacek, von Döbeln, Ulrika, Hammarström, Lennart

Journal:

International Journal of Neonatal Screening

Année:

2017

Langue:

english

Fichier:

PDF, 501 KB

english, 2017

30

Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias

Borte, Stephan, Reichenbach, Janine

Journal:

International Journal of Neonatal Screening

Année:

2015

Langue:

english

Fichier:

PDF, 699 KB

english, 2015

31

Impaired polysaccharide responsiveness without agammaglobulinemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase ‐ no detection by newborn screening for primary immunodeficiences

Krüger, Renate, Baumann, Ulrich, Borte, Stephan, Kölsch, Uwe, Lorenz, Myriam Ricarda, Keller, Baerbel, Harder, Ina, Warnatz, Klaus, Ehl, Stephan, Schwarz, Klaus, Wahn, Volker, von Bernuth, Horst

Journal:

Scandinavian Journal of Immunology

Année:

2019

Langue:

english

Fichier:

PDF, 455 KB

english, 2019

32

Comprehensive investigation of an in-hospital transmission cluster of a symptomatic SARS-CoV-2âpositive physician among patients and healthcare workers in Germany

Wendt, Ralph, Nagel, Stephan, Nickel, Olaf, Wolf, Johannes, Kalbitz, Sven, Kaiser, Thorsten, Borte, Stephan, LÃ¼bbert, Christoph

Journal:

Infection Control and Hospital Epidemiology

Année:

2020

Fichier:

PDF, 166 KB

2020