Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

317 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: mayr d. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B, Uçkan-Çetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G, Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma CS, Özen A, Stepensky P, Tezcan I, Boztug K, Tangye SG. Cagdas D, et al. Among authors: mayr d. J Clin Immunol. 2021 Aug;41(6):1272-1290. doi: 10.1007/s10875-021-01031-5. Epub 2021 Apr 30. J Clin Immunol. 2021. PMID: 33929673 Free PMC article.
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: mayr d. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: mayr d. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6. Nat Genet. 2022. PMID: 34987219 No abstract available.
The EndoPredict score provides prognostic information on late distant metastases in ER+/HER2- breast cancer patients.
Dubsky P, Brase JC, Jakesz R, Rudas M, Singer CF, Greil R, Dietze O, Luisser I, Klug E, Sedivy R, Bachner M, Mayr D, Schmidt M, Gehrmann MC, Petry C, Weber KE, Fisch K, Kronenwett R, Gnant M, Filipits M; Austrian Breast and Colorectal Cancer Study Group (ABCSG). Dubsky P, et al. Among authors: mayr d. Br J Cancer. 2013 Dec 10;109(12):2959-64. doi: 10.1038/bjc.2013.671. Epub 2013 Oct 24. Br J Cancer. 2013. PMID: 24157828 Free PMC article.
EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer.
Dubsky P, Filipits M, Jakesz R, Rudas M, Singer CF, Greil R, Dietze O, Luisser I, Klug E, Sedivy R, Bachner M, Mayr D, Schmidt M, Gehrmann MC, Petry C, Weber KE, Kronenwett R, Brase JC, Gnant M; Austrian Breast and Colorectal Cancer Study Group (ABCSG). Dubsky P, et al. Among authors: mayr d. Ann Oncol. 2013 Mar;24(3):640-7. doi: 10.1093/annonc/mds334. Epub 2012 Oct 3. Ann Oncol. 2013. PMID: 23035151 Free PMC article.
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.
Heath O, Feichtinger RG, Achleitner MT, Hofbauer P, Mayr D, Merkevicius K, Spenger J, Steinbrücker K, Steindl C, Tiefenthaler E, Mayr JA, Wortmann SB. Heath O, et al. Among authors: mayr d. Eur J Paediatr Neurol. 2024 Dec 15;54:75-88. doi: 10.1016/j.ejpn.2024.10.009. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39793294 Review.
Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.
Abrahamian C, Tang R, Deutsch R, Ouologuem L, Weiden EM, Kudrina V, Blenninger J, Rilling J, Feldmann C, Kuss S, Stepanov Y, Rosato AS, Calvo GT, Soengas MS, Mayr D, Fröhlich T, Gudermann T, Biel M, Wahl-Schott C, Chen CC, Bartel K, Grimm C. Abrahamian C, et al. Among authors: mayr d. Nat Commun. 2024 Nov 19;15(1):10008. doi: 10.1038/s41467-024-54324-9. Nat Commun. 2024. PMID: 39562548 Free PMC article.
[Unusual proliferation of the fallopian tube].
Vlaški A, Neukunft V, Gassel AM, Klauschen F, Mayr D. Vlaški A, et al. Among authors: mayr d. Pathologie (Heidelb). 2024 Oct 11. doi: 10.1007/s00292-024-01370-1. Online ahead of print. Pathologie (Heidelb). 2024. PMID: 39392542 German. No abstract available.
317 results