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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: rapp ck. Clin Genet. 2021 Jun;99(6):789-801. doi: 10.1111/cge.13943. Epub 2021 Feb 28. Clin Genet. 2021. PMID: 33598926
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
Gothe F, Gehrig J, Rapp CK, Knoflach K, Reu-Hofer S, Länger F, Schramm D, Ley-Zaporozhan J, Ehl S, Schwerk N, Faletti L, Griese M. Gothe F, et al. Among authors: rapp ck. Pediatr Pulmonol. 2021 Dec;56(12):3934-3941. doi: 10.1002/ppul.25684. Epub 2021 Sep 28. Pediatr Pulmonol. 2021. PMID: 34549903
Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!
Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, Robinson PN, Griese M; ChILD EU Collaborators. Knoflach K, et al. Among authors: rapp ck. Pediatr Pulmonol. 2023 Apr;58(4):1106-1121. doi: 10.1002/ppul.26301. Epub 2023 Jan 13. Pediatr Pulmonol. 2023. PMID: 36588100 Free PMC article.
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X, Forstner M, Rapp CK, Rothenaigner I, Li Y, Hadian K, Griese M. Yang X, et al. Among authors: rapp ck. Int J Mol Sci. 2023 May 3;24(9):8179. doi: 10.3390/ijms24098179. Int J Mol Sci. 2023. PMID: 37175887 Free PMC article.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Schütz K, Schmidt A, Schwerk N, Renz DM, Gerard B, Schaefer E, Antal MC, Peters S, Griese M, Rapp CK, Engels H, Cremer K, Bergmann AK, Schmidt G, Auber B, Kamp JC, Laenger F, von Hardenberg S. Schütz K, et al. Among authors: rapp ck. Pediatr Pulmonol. 2023 Nov;58(11):3095-3105. doi: 10.1002/ppul.26627. Epub 2023 Aug 10. Pediatr Pulmonol. 2023. PMID: 37560881
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.
Kamp JC, Neubert L, Schupp JC, Braubach P, Wrede C, Laenger F, Salditt T, Reichmann J, Welte T, Ruhparwar A, Ius F, Schwerk N, Bergmann AK, von Hardenberg S, Griese M, Rapp C, Olsson KM, Fuge J, Park DH, Hoeper MM, Jonigk DD, Knudsen L, Kuehnel MP. Kamp JC, et al. Am J Pathol. 2024 Feb;194(2):180-194. doi: 10.1016/j.ajpath.2023.10.012. Epub 2023 Nov 27. Am J Pathol. 2024. PMID: 38029923
[Kids Lung Registry and Child-EU Project - Progress in Rare and Interstitial Lung Diseases in Childhood Through Collaboration].
Griese M, Gold A, Gothe F, Kaiser H, Kammer B, Kappler M, Krueger-Stollfuss I, Ley-Zaporozhan J, Michel K, Rapp CK, Reu-Hofer S, Rock H, Schams A, Tran NB, Schwerk N. Griese M, et al. Among authors: rapp ck. Klin Padiatr. 2024 Feb;236(2):80-96. doi: 10.1055/a-2214-7090. Epub 2023 Dec 18. Klin Padiatr. 2024. PMID: 38109904 German.
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: rapp ck. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
14 results