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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Pasutto F, et al. Among authors: brasch f. Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273977 Free PMC article.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Xu Z, et al. Among authors: brasch f. Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006. Am J Hum Genet. 2018. PMID: 29979980 Free PMC article.
HNPCC: six new pathogenic mutations.
Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W. Kunstmann E, et al. BMC Med Genet. 2004 Jun 24;5:16. doi: 10.1186/1471-2350-5-16. BMC Med Genet. 2004. PMID: 15217520 Free PMC article.
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
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.
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
Persistent Tachypnea of Infancy. Usual and Aberrant.
Rauch D, Wetzke M, Reu S, Wesselak W, Schams A, Hengst M, Kammer B, Ley-Zaporozhan J, Kappler M, Proesmans M, Lange J, Escribano A, Kerem E, Ahrens F, Brasch F, Schwerk N, Griese M; PTI (Persistent Tachypnea of Infancy) Study Group of the Kids Lung Register. Rauch D, et al. Among authors: brasch f. Am J Respir Crit Care Med. 2016 Feb 15;193(4):438-47. doi: 10.1164/rccm.201508-1655OC. Am J Respir Crit Care Med. 2016. PMID: 26474448 Free article.
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.
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.
93 results