Yamada M - Search Results

1

A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever.

Yamada S, Nagafuchi Y, Yamada M, Suzuki H, Natsumoto B, Ota M, Takazawa I, Hatano H, Kono M, Harada H, Shoda H, Okamura T, Kosaki K, Fujio K. Yamada S, et al. Among authors: yamada m. Front Immunol. 2024 Oct 25;15:1475179. doi: 10.3389/fimmu.2024.1475179. eCollection 2024. Front Immunol. 2024. PMID: 39524436 Free PMC article.

2

SATB2-associated syndrome in patients from Japan: Linguistic profiles.

Yamada M, Uehara T, Suzuki H, Takenouchi T, Yoshihashi H, Suzumura H, Mizuno S, Kosaki K. Yamada M, et al. Am J Med Genet A. 2019 Jun;179(6):896-899. doi: 10.1002/ajmg.a.61114. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848049

3

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.

Uehara T, Tsuchihashi T, Yamada M, Suzuki H, Takenouchi T, Kosaki K. Uehara T, et al. Among authors: yamada m. Am J Med Genet A. 2019 Dec;179(12):2506-2509. doi: 10.1002/ajmg.a.61356. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512373 Review. No abstract available.

4

IFT172 as the 19th gene causative of oral-facial-digital syndrome.

Yamada M, Uehara T, Suzuki H, Takenouchi T, Fukushima H, Morisada N, Tominaga K, Onoda M, Kosaki K. Yamada M, et al. Am J Med Genet A. 2019 Dec;179(12):2510-2513. doi: 10.1002/ajmg.a.61373. Epub 2019 Oct 6. Am J Med Genet A. 2019. PMID: 31587445 No abstract available.

5

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.

Yamada M, Suzuki H, Shiraishi Y, Kosaki K. Yamada M, et al. Mol Genet Metab Rep. 2019 Oct 23;21:100531. doi: 10.1016/j.ymgmr.2019.100531. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687339 Free PMC article.

6

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.

Uehara T, Yamada M, Umetsu S, Nittono H, Suzuki H, Fujisawa T, Takenouchi T, Inui A, Kosaki K. Uehara T, et al. Among authors: yamada m. J Pediatr. 2020 Jun;221:251-254. doi: 10.1016/j.jpeds.2020.01.064. Epub 2020 Apr 14. J Pediatr. 2020. PMID: 32303357

7

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.

Yamada M, Uehara T, Suzuki H, Takenouchi T, Inui A, Ikemiyagi M, Kamimaki I, Kosaki K. Yamada M, et al. Am J Med Genet A. 2020 Jul;182(7):1631-1636. doi: 10.1002/ajmg.a.61598. Epub 2020 May 15. Am J Med Genet A. 2020. PMID: 32412173

8

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Yamada M, Shiraishi Y, Uehara T, Suzuki H, Takenouchi T, Abe-Hatano C, Kurosawa K, Kosaki K. Yamada M, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1364. doi: 10.1002/mgg3.1364. Epub 2020 Jun 26. Mol Genet Genomic Med. 2020. PMID: 32588992 Free PMC article.

9

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.

Suzuki H, Yamada M, Uehara T, Takenouchi T, Kosaki K. Suzuki H, et al. Among authors: yamada m. Am J Med Genet A. 2020 Nov;182(11):2529-2532. doi: 10.1002/ajmg.a.61822. Epub 2020 Aug 11. Am J Med Genet A. 2020. PMID: 32779332 Free PMC article.

10

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.

Yamada M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Yamada M, et al. Am J Med Genet A. 2020 Nov;182(11):2709-2714. doi: 10.1002/ajmg.a.61816. Epub 2020 Aug 27. Am J Med Genet A. 2020. PMID: 32851780

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