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Page 1
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M. Kröner C, et al. Among authors: brasch f. Eur Respir J. 2015 Jul;46(1):197-206. doi: 10.1183/09031936.00129414. Epub 2015 Feb 5. Eur Respir J. 2015. PMID: 25657025 Free article.
Long-term follow-up and treatment of congenital alveolar proteinosis.
Griese M, Ripper J, Sibbersen A, Lohse P, Lohse P, Brasch F, Schams A, Pamir A, Schaub B, Muensterer OJ, Schön C, Glöckner-Pagel J, Nicolai T, Reiter K, Hector A. Griese M, et al. Among authors: brasch f. BMC Pediatr. 2011 Aug 17;11:72. doi: 10.1186/1471-2431-11-72. BMC Pediatr. 2011. PMID: 21849033 Free PMC article.
Lung disease caused by ABCA3 mutations.
Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, Zarbock R, Griese M. Kröner C, et al. Among authors: brasch f. Thorax. 2017 Mar;72(3):213-220. doi: 10.1136/thoraxjnl-2016-208649. Epub 2016 Aug 11. Thorax. 2017. PMID: 27516224
Tools to explore ABCA3 mutations causing interstitial lung disease.
Wittmann T, Schindlbeck U, Höppner S, Kinting S, Frixel S, Kröner C, Liebisch G, Hegermann J, Aslanidis C, Brasch F, Reu S, Lasch P, Zarbock R, Griese M. Wittmann T, et al. Among authors: brasch f. Pediatr Pulmonol. 2016 Dec;51(12):1284-1294. doi: 10.1002/ppul.23471. Epub 2016 May 13. Pediatr Pulmonol. 2016. PMID: 27177387
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Schuch LA, Forstner M, Rapp CK, Li Y, Smith DEC, Mendes MI, Delhommel F, Sattler M, Emiralioğlu N, Taskiran EZ, Orhan D, Kiper N, Rohlfs M, Jeske T, Hastreiter M, Gerstlauer M, Torrent-Vernetta A, Moreno-Galdó A, Kammer B, Brasch F, Reu-Hofer S, Griese M. Schuch LA, et al. Among authors: brasch f. Clin Genet. 2021 Jun;99(6):789-801. doi: 10.1111/cge.13943. Epub 2021 Feb 28. Clin Genet. 2021. PMID: 33598926
Categorizing diffuse parenchymal lung disease in children.
Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C. Griese M, et al. Among authors: brasch f. Orphanet J Rare Dis. 2015 Sep 25;10:122. doi: 10.1186/s13023-015-0339-1. Orphanet J Rare Dis. 2015. PMID: 26408013 Free PMC article.
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Hengst M, Naehrlich L, Mahavadi P, Grosse-Onnebrink J, Terheggen-Lagro S, Skanke LH, Schuch LA, Brasch F, Guenther A, Reu S, Ley-Zaporozhan J, Griese M. Hengst M, et al. Among authors: brasch f. Orphanet J Rare Dis. 2018 Mar 27;13(1):42. doi: 10.1186/s13023-018-0780-z. Orphanet J Rare Dis. 2018. PMID: 29580292 Free PMC article.
90 results