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ERCC6L2 syndrome: attack of the TP53 clones.
Wlodarski MW. Wlodarski MW. Blood. 2023 Jun 8;141(23):2788-2789. doi: 10.1182/blood.2023020394. Blood. 2023. PMID: 37289478 No abstract available.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Among authors: wlodarski m. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Free article. Review.
Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH. Strahm B, et al. Among authors: wlodarski m. Blood Adv. 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. Blood Adv. 2020. PMID: 32343795 Free PMC article.
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel. Wlodarski MW, et al. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731 Review.
Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.
Kreutmair S, Erlacher M, Andrieux G, Istvanffy R, Mueller-Rudorf A, Zwick M, Rückert T, Pantic M, Poggio T, Shoumariyeh K, Mueller TA, Kawaguchi H, Follo M, Klingeberg C, Wlodarski M, Baumann I, Pfeifer D, Kulinski M, Rudelius M, Lemeer S, Kuster B, Dierks C, Peschel C, Cabezas-Wallscheid N, Duque-Afonso J, Zeiser R, Cleary ML, Schindler D, Schmitt-Graeff A, Boerries M, Niemeyer CM, Oostendorp RA, Duyster J, Illert AL. Kreutmair S, et al. Among authors: wlodarski m. J Clin Invest. 2020 Jun 1;130(6):2827-2844. doi: 10.1172/JCI126215. J Clin Invest. 2020. PMID: 32338640 Free PMC article.
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: wlodarski mw. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.
Chao MM, Thomay K, Goehring G, Wlodarski M, Pastor V, Schlegelberger B, Schindler D, Kratz CP, Niemeyer C. Chao MM, et al. Among authors: wlodarski m. Klin Padiatr. 2017 Nov;229(6):329-334. doi: 10.1055/s-0043-117046. Epub 2017 Nov 13. Klin Padiatr. 2017. PMID: 29132164 English.
162 results