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Page 1
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Iida T, et al. Among authors: maki r. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: maki r. Sci Rep. 2023 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. Sci Rep. 2023. PMID: 36653413 Free PMC article.
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: maki r. Sci Rep. 2023 Mar 9;13(1):3954. doi: 10.1038/s41598-023-30968-3. Sci Rep. 2023. PMID: 36894578 Free PMC article. No abstract available.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Surgical Management of Sarcoma Metastatic to Liver.
Ecker BL, Maki RG, Cavnar MJ, DeMatteo RP. Ecker BL, et al. Among authors: maki rg. Hematol Oncol Clin North Am. 2025 Feb;39(1):55-65. doi: 10.1016/j.hoc.2024.08.002. Hematol Oncol Clin North Am. 2025. PMID: 39510677 Review.
Minimally invasive approach of hepatectomy and thrombectomy for hepatocellular carcinoma with right atrial tumor thrombus without sternotomy using percutaneous cardiopulmonary bypass.
Maki R, Iwagami Y, Kobayashi S, Sasaki K, Yamada D, Tomimaru Y, Noda T, Takahashi H, Doki Y, Eguchi H. Maki R, et al. J Hepatobiliary Pancreat Sci. 2024 Dec;31(12):e62-e65. doi: 10.1002/jhbp.12083. Epub 2024 Nov 3. J Hepatobiliary Pancreat Sci. 2024. PMID: 39489710 Free PMC article.
International Multicenter Retrospective Study From the Ultra-rare Sarcoma Working Group on Low-grade Fibromyxoid Sarcoma, Sclerosing Epithelioid Fibrosarcoma, and Hybrid Forms: Outcome of Primary Localized Disease.
Giani C, Salawu A, Ljevar S, Denu RA, Napolitano A, Palmerini E, Connolly EA, Ogura K, Wong DD, Scanferla R, Rosenbaum E, Bajpai J, Li ZC, Bae S, D'Ambrosio L, Bialick S, Wagner AJ, Lee ATJ, Koseła-Paterczyk H, Baldi GG, Brunello A, Lee YC, Loong HH, Boikos S, Campos F, Cicala CM, Maki RG, Hindi N, Figura C, Almohsen SS, Patel S, Jones RL, Ibrahim T, Karim R, Kawai A, Carey-Smith R, Boyle R, Taverna SM, Lazar AJ, Demicco EG, Bovee JVMG, Dei Tos AP, Fletcher C, Baumhoer D, Sbaraglia M, Schaefer IM, Miceli R, Gronchi A, Stacchiotti S. Giani C, et al. Among authors: maki rg. Am J Surg Pathol. 2025 Jan 1;49(1):27-34. doi: 10.1097/PAS.0000000000002330. Epub 2024 Oct 28. Am J Surg Pathol. 2025. PMID: 39466087 Free PMC article.
555 results