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Page 1
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.
Philippot Q, Kannengiesser C, Debray MP, Gauvain C, Ba I, Vieri M, Gondouin A, Naccache JM, Reynaud-Gaubert M, Uzunhan Y, Bondue B, Israël-Biet D, Dieudé P, Fourrage C, Lainey E, Manali E, Papiris S, Wemeau L, Hirschi S, Mal H, Nunes H, Schlemmer F, Blanchard E, Beier F, Cottin V, Crestani B, Borie R; OrphaLung Network. Philippot Q, et al. Among authors: beier f. Respirology. 2022 Mar;27(3):226-235. doi: 10.1111/resp.14195. Epub 2022 Jan 3. Respirology. 2022. PMID: 34981600
Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita.
Kirschner M, Vieri M, Kricheldorf K, Ferreira MSV, Wlodarski MW, Schwarz M, Balabanov S, Rolles B, Isfort S, Koschmieder S, Höchsmann B, Panse J, Brümmendorf TH, Beier F. Kirschner M, et al. Among authors: beier f. Br J Haematol. 2021 May;193(3):669-673. doi: 10.1111/bjh.16997. Epub 2020 Aug 3. Br J Haematol. 2021. PMID: 32744739 Free article.
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Among authors: beier f. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Among authors: beier f. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort.
Phillips-Houlbracq M, Mal H, Cottin V, Gauvain C, Beier F, Sicre de Fontbrune F, Sidali S, Mornex JF, Hirschi S, Roux A, Weisenburger G, Roussel A, Wémeau-Stervinou L, Le Pavec J, Pison C, Marchand Adam S, Froidure A, Lazor R, Naccache JM, Jouneau S, Nunes H, Reynaud-Gaubert M, Le Borgne A, Boutboul D, Ba I, Boileau C, Crestani B, Kannengiesser C, Borie R; OrphaLung Network. Phillips-Houlbracq M, et al. Among authors: beier f. Am J Transplant. 2022 Apr;22(4):1236-1244. doi: 10.1111/ajt.16893. Epub 2021 Dec 28. Am J Transplant. 2022. PMID: 34854205 Free article.
Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies.
Ferreira MSV, Kirschner M, Halfmeyer I, Estrada N, Xicoy B, Isfort S, Vieri M, Zamora L, Abels A, Bouillon AS, Begemann M, Schemionek M, Maurer A, Koschmieder S, Wilop S, Panse J, Brümmendorf TH, Beier F. Ferreira MSV, et al. Among authors: beier f. Ann N Y Acad Sci. 2020 Apr;1466(1):93-103. doi: 10.1111/nyas.14248. Epub 2019 Oct 24. Ann N Y Acad Sci. 2020. PMID: 31647584 Free article.
316 results