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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: hrabe de angelis m. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
The large-scale Munich ENU-mouse-mutagenesis screen.
Soewarto D, Fella C, Teubner A, Rathkolb B, Pargent W, Heffner S, Marschall S, Wolf E, Balling R, Hrabé de Angelis M. Soewarto D, et al. Among authors: hrabe de angelis m. Mamm Genome. 2000 Jul;11(7):507-10. doi: 10.1007/s003350010097. Mamm Genome. 2000. PMID: 10886013 No abstract available.
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Hrabé de Angelis MH, et al. Nat Genet. 2000 Aug;25(4):444-7. doi: 10.1038/78146. Nat Genet. 2000. PMID: 10932192
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Vreugde S, et al. Among authors: hrabe de angelis m. Nat Genet. 2002 Mar;30(3):257-8. doi: 10.1038/ng848. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850623
In vitro fertilization/cryopreservation.
Marschall S, Hrabĕ de Angelis M. Marschall S, et al. Among authors: hrabe de angelis m. Methods Mol Biol. 2003;209:35-50. doi: 10.1385/1-59259-340-2:35. Methods Mol Biol. 2003. PMID: 12357961 No abstract available.
360 results