Hirschmugl T - Search Results

1

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

Pfajfer L, Seidel MG, Houmadi R, Rey-Barroso J, Hirschmugl T, Salzer E, Antón IM, Urban C, Schwinger W, Boztug K, Dupré L. Pfajfer L, et al. Among authors: hirschmugl t. Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. Epub 2017 Sep 13. Blood. 2017. PMID: 28903942 Free article. No abstract available.

2

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K. Seidel MG, et al. Among authors: hirschmugl t. J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. J Allergy Clin Immunol. 2015. PMID: 25539626 Free PMC article. No abstract available.

3

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Erman B, Bilic I, Hirschmugl T, Salzer E, Çagdas D, Esenboga S, Akcoren Z, Sanal O, Tezcan I, Boztug K. Erman B, et al. Among authors: hirschmugl t. Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13. Haematologica. 2015. PMID: 25769540 Free PMC article. No abstract available.

4

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

Kiykim A, Ogulur I, Baris S, Salzer E, Karakoc-Aydiner E, Ozen AO, Garncarz W, Hirschmugl T, Krolo A, Yucelten AD, Boztug K, Barlan IB. Kiykim A, et al. Among authors: hirschmugl t. J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2. J Clin Immunol. 2015. PMID: 26233237

5

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, Çağdaş Ayvaz D, Tezcan I, Boztug K. Erman B, et al. Among authors: hirschmugl t. Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523. Scand J Immunol. 2017. PMID: 28109013 Free article.

6

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

Müller H, Jimenez-Heredia R, Krolo A, Hirschmugl T, Dmytrus J, Boztug K, Bock C. Müller H, et al. Among authors: hirschmugl t. Nucleic Acids Res. 2017 Jul 3;45(W1):W567-W572. doi: 10.1093/nar/gkx425. Nucleic Acids Res. 2017. PMID: 28520890 Free PMC article.

7

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, Pickl W, Förster-Waldl E, Boztug K. Boztug H, et al. Among authors: hirschmugl t. J Clin Immunol. 2016 Aug;36(6):533-40. doi: 10.1007/s10875-016-0306-1. Epub 2016 Jun 23. J Clin Immunol. 2016. PMID: 27338827 Free PMC article.

8

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

Hauck F, Magg T, Krolo A, Bilic I, Hirschmugl T, Laass M, Rösen-Wolff A, Luksch H, Boztug K, Roesler J. Hauck F, et al. Among authors: hirschmugl t. Klin Padiatr. 2017 May;229(3):113-117. doi: 10.1055/s-0043-104218. Epub 2017 May 30. Klin Padiatr. 2017. PMID: 28561224 English.

9

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N. Zoghi S, et al. Among authors: hirschmugl t. Allergol Immunopathol (Madr). 2018 Nov-Dec;46(6):594-598. doi: 10.1016/j.aller.2018.02.004. Epub 2018 May 5. Allergol Immunopathol (Madr). 2018. PMID: 29739689

10

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: hirschmugl t. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

17 results

Search Page