Deutschmann AJ - Search Results

1

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: deutschmann aj. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.

2

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J. Deutschmann AJ, et al. Hum Mol Genet. 2014 Jul 1;23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18. Hum Mol Genet. 2014. PMID: 24549042

3

17β-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.

Amberger A, Deutschmann AJ, Traunfellner P, Moser P, Feichtinger RG, Kofler B, Zschocke J. Amberger A, et al. Among authors: deutschmann aj. Cancer Lett. 2016 Apr 28;374(1):149-155. doi: 10.1016/j.canlet.2016.02.011. Epub 2016 Feb 13. Cancer Lett. 2016. PMID: 26884257

4

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.

5

Genotype-based databases for variants causing rare diseases.

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M. Lanthaler B, et al. Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8. Gene. 2014. PMID: 25111118

6

Short-term intravenous fish-oil emulsions in pediatric oncologic patients--effect on liver parameters.

Hoffmann KM, Grabowski M, Rödl S, Deutschmann A, Schwantzer G, Sovinz P, Strenger V, Urban C, Muntean W, Hauer AC. Hoffmann KM, et al. Nutr Cancer. 2014;66(6):1070-6. doi: 10.1080/01635581.2014.916316. Epub 2014 May 21. Nutr Cancer. 2014. PMID: 24848020

7

Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report.

Baghdasaryan A, Ofner-Ziegenfuß L, Lackner C, Fickert P, Resch B, Morris NM, Deutschmann A. Baghdasaryan A, et al. BMC Pediatr. 2020 Jul 9;20(1):340. doi: 10.1186/s12887-020-02201-x. BMC Pediatr. 2020. PMID: 32646411 Free PMC article.

8

Increased procoagulant function of microparticles in pediatric inflammatory bowel disease: role in increased thrombin generation.

Deutschmann A, Schlagenhauf A, Leschnik B, Hoffmann KM, Hauer A, Muntean W. Deutschmann A, et al. J Pediatr Gastroenterol Nutr. 2013 Apr;56(4):401-7. doi: 10.1097/MPG.0b013e31827daf72. J Pediatr Gastroenterol Nutr. 2013. PMID: 23164759

9

Onset of Thrombin Generation Occurs More Rapidly in Pediatric Patients With Celiac Disease.

Deutschmann A, Schlagenhauf A, Leschnik B, Hoffmann KM, Hauer A, Muntean W. Deutschmann A, et al. J Pediatr Gastroenterol Nutr. 2015 Aug;61(2):230-3. doi: 10.1097/MPG.0000000000000786. J Pediatr Gastroenterol Nutr. 2015. PMID: 25793906

10

Monitoring of antibiotic resistance rates of Helicobacter pylori in Austrian children, 2002-2009.

Prechtl J, Deutschmann A, Savic T, Jahnel J, Bogiatzis A, Muntean W, Hauer AC, Hoffmann KM. Prechtl J, et al. Pediatr Infect Dis J. 2012 Mar;31(3):312-4. doi: 10.1097/INF.0b013e31823d9490. Pediatr Infect Dis J. 2012. PMID: 22094633

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