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Page 1
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S. Jessen B, et al. Among authors: griese m. Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12. Blood. 2013. PMID: 23403622 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: griese m. 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.
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Among authors: griese m. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
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: griese m. Pediatr Pulmonol. 2021 Dec;56(12):3934-3941. doi: 10.1002/ppul.25684. Epub 2021 Sep 28. Pediatr Pulmonol. 2021. PMID: 34549903
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Vavassori S, et al. Among authors: griese m. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872655 Free PMC article. Clinical Trial.
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: griese m. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Therapeutic lung lavages in children and adults.
Paschen C, Reiter K, Stanzel F, Teschler H, Griese M. Paschen C, et al. Among authors: griese m. Respir Res. 2005 Nov 22;6(1):138. doi: 10.1186/1465-9921-6-138. Respir Res. 2005. PMID: 16303053 Free PMC article.
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G. Brasch F, et al. Among authors: griese m. Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. doi: 10.1164/rccm.200509-1535OC. Epub 2006 May 25. Am J Respir Crit Care Med. 2006. PMID: 16728712
415 results