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SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: yamada s. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: yamada s. J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275241
[No title available]
[No authors listed] [No authors listed] PMID: 33419960
Prevalence and Clinical Outcomes of Discordant Lesions Between Fractional Flow Reserve and Nonhyperemic Pressure Ratios in Clinical Practice: The J-PRIDE Registry.
Kuramitsu S, Kawase Y, Shinozaki T, Domei T, Yamanaka F, Kaneko U, Kakuta T, Horie K, Terai H, Ando H, Shiono Y, Tagashira T, Nogi K, Kubo T, Asano T, Shiraishi J, Otake H, Sugano A, Anai R, Iwai A, Kikuta Y, Nishina H, Fujita T, Amano T, Iwabuchi M, Yokoi H, Akasaka T, Matsuo H, Tanaka N; J-PRIDE Investigators. Kuramitsu S, et al. Circulation. 2025 Jan 9. doi: 10.1161/CIRCULATIONAHA.124.071139. Online ahead of print. Circulation. 2025. PMID: 39781739
The authors reply.
Tamura T, Narumiya H, Homma K, Sano M, Suzuki M; Efficacy of Inhaled Hydrogen on Neurologic Outcome Following Brain Ischemia During Post-Cardiac Arrest Care (HYBRID) II Study Group. Tamura T, et al. Crit Care Med. 2025 Jan 1;53(1):e229-e230. doi: 10.1097/CCM.0000000000006484. Epub 2025 Jan 7. Crit Care Med. 2025. PMID: 39774225 No abstract available.
8,533 results