Futagawa H - Search Results

1

Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Among authors: futagawa h. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.

2

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. Takeda R, et al. Among authors: futagawa h. Eur J Med Genet. 2017 Dec;60(12):635-638. doi: 10.1016/j.ejmg.2017.08.002. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807865

3

Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome.

Kajita N, Futagawa H, Yoshihashi H, Yoshida K, Narita M. Kajita N, et al. Among authors: futagawa h. Pediatr Int. 2022 Jan;64(1):e14732. doi: 10.1111/ped.14732. Epub 2021 Nov 22. Pediatr Int. 2022. PMID: 34808020 No abstract available.

4

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Yamada M, Suzuki H, Futagawa H, Takenouchi T, Miya F, Yoshihashi H, Kosaki K. Yamada M, et al. Among authors: futagawa h. Eur J Med Genet. 2022 Jun;65(6):104512. doi: 10.1016/j.ejmg.2022.104512. Epub 2022 Apr 18. Eur J Med Genet. 2022. PMID: 35439611

5

Long-term clinical course of Heyn-Sproul-Jackson syndrome.

Futagawa H, Ito S, Kosaki K, Yoshihashi H. Futagawa H, et al. Congenit Anom (Kyoto). 2023 Sep;63(5):174-175. doi: 10.1111/cga.12532. Epub 2023 Jul 30. Congenit Anom (Kyoto). 2023. PMID: 37517811 No abstract available.

6

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

Nishio Y, Kato K, Tran Mau-Them F, Futagawa H, Quélin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S. Nishio Y, et al. Among authors: futagawa h. HGG Adv. 2023 Oct 12;4(4):100238. doi: 10.1016/j.xhgg.2023.100238. Epub 2023 Sep 14. HGG Adv. 2023. PMID: 37710961 Free PMC article.

7

Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome.

Futagawa H, Ito S, Hosoi K, Tamada I, Ogata K, Fukuda K, Yamanaka H, Kuroda M, Suda C, Shimizu K, Yoshihashi H. Futagawa H, et al. Pediatr Int. 2024 Jan-Dec;66(1):e15797. doi: 10.1111/ped.15797. Pediatr Int. 2024. PMID: 39258861

8

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium. Watanabe K, et al. Sci Rep. 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. Sci Rep. 2024. PMID: 38594301 Free PMC article.

9

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.

Suzuki K, Wakamatsu M, Ito Y, Ishikawa M, Shimotakahara A, Futagawa H, Yamamoto Y, Nagamine H, Saito O, Muramatsu H, Yuza Y. Suzuki K, et al. Among authors: futagawa h. Pediatr Blood Cancer. 2024 Feb;71(2):e30780. doi: 10.1002/pbc.30780. Epub 2023 Nov 27. Pediatr Blood Cancer. 2024. PMID: 38015090 Review. No abstract available.

10

An Electropolymerized Crystalline Film Incorporating Axially-Bound Metalloporphycenes: Remarkable Reversibility, Reproducibility, and Coloration Efficiency of Ruthenium(II/III)-Based Electrochromism.

Abe M, Futagawa H, Ono T, Yamada T, Kimizuka N, Hisaeda Y. Abe M, et al. Among authors: futagawa h. Inorg Chem. 2015 Dec 7;54(23):11061-3. doi: 10.1021/acs.inorgchem.5b02129. Epub 2015 Nov 16. Inorg Chem. 2015. PMID: 26569481

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