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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Among authors: prawitt d. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
Correction to: Molecular karyotyping and gene expression analysis in childhood cancer patients.
Galetzka D, Müller T, Dittrich M, Endres M, Kartal N, Sinizyn O, Rapp S, Zeller T, Müller C, Hankeln T, Scholz-Kreisel P, Chorzempa H, Mirsch J, Poplawski A, Rossmann H, Spix C, Haaf T, Prawitt D, Marron M, Schmidberger H. Galetzka D, et al. Among authors: prawitt d. J Mol Med (Berl). 2020 Nov;98(11):1657. doi: 10.1007/s00109-020-01986-9. J Mol Med (Berl). 2020. PMID: 32978668 Free PMC article.
Hypermethylation of RAD9A intron 2 in childhood cancer patients, leukemia and tumor cell lines suggest a role for oncogenic transformation.
Galetzka D, Böck J, Wagner L, Dittrich M, Sinizyn O, Ludwig M, Rossmann H, Spix C, Radsak M, Scholz-Kreisel P, Mirsch J, Linke M, Brenner W, Marron M, Poplawski A, Haaf T, Schmidberger H, Prawitt D. Galetzka D, et al. Among authors: prawitt d. EXCLI J. 2022 Jan 7;21:117-143. doi: 10.17179/excli2021-4482. eCollection 2022. EXCLI J. 2022. PMID: 35221838 Free PMC article.
Linking C5 deficiency to an exonic splicing enhancer mutation.
Pfarr N, Prawitt D, Kirschfink M, Schroff C, Knuf M, Habermehl P, Mannhardt W, Zepp F, Fairbrother WG, Loos M, Burge CB, Pohlenz J. Pfarr N, et al. Among authors: prawitt d. J Immunol. 2005 Apr 1;174(7):4172-7. doi: 10.4049/jimmunol.174.7.4172. J Immunol. 2005. PMID: 15778377
A family-based investigation of cold pain tolerance.
Birklein F, Depmeier C, Rolke R, Hansen C, Rautenstrauss B, Prawitt D, Magerl W. Birklein F, et al. Among authors: prawitt d. Pain. 2008 Aug 15;138(1):111-118. doi: 10.1016/j.pain.2007.11.012. Epub 2008 Jan 14. Pain. 2008. PMID: 18194840
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T. van der Kaay DCM, et al. Among authors: prawitt d. Endocr Connect. 2022 Oct 10;11(11):e220277. doi: 10.1530/EC-22-0277. Print 2022 Nov 1. Endocr Connect. 2022. PMID: 36064195 Free PMC article. Review.
62 results