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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: shimamura a. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: shimamura a. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT.
Gurnari C, Robin M, Godley LA, Drozd-Sokołowska J, Włodarski MW, Raj K, Onida F, Worel N, Ciceri F, Carbacioglu S, Kenyon M, Aljurf M, Bonfim C, Makishima H, Niemeyer C, Fenaux P, Zebisch A, Hamad N, Chalandon Y, Hellström-Lindberg E, Voso MT, Mecucci C, Duarte FB, Sebert M, Sicre de Fontbrune F, Soulier J, Shimamura A, Lindsley RC, Maciejewski JP, Calado RT, Yakoub-Agha I, McLornan DP. Gurnari C, et al. Among authors: shimamura a. Lancet Haematol. 2023 Dec;10(12):e994-e1005. doi: 10.1016/S2352-3026(23)00265-X. Epub 2023 Oct 25. Lancet Haematol. 2023. PMID: 37898151 Review.
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. Among authors: shimamura a. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731 Review.
Mouse eosinophil-associated ribonuclease-2 exacerbates the allergic response.
Nguyen LM, Kanda A, Kamioka Y, Tokuhiro K, Kobayashi Y, Yun Y, Bui DV, Chu HH, Le NKT, Suzuki K, Mitani A, Shimamura A, Fukui K, Dombrowicz D, Iwai H. Nguyen LM, et al. Among authors: shimamura a. Allergy. 2024 Feb 23. doi: 10.1111/all.16061. Online ahead of print. Allergy. 2024. PMID: 38391260 No abstract available.
291 results