Inaba M - Search Results

1

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S. Takenouchi T, et al. Among authors: inaba m. Am J Med Genet A. 2018 Feb;176(2):431-437. doi: 10.1002/ajmg.a.38543. Epub 2017 Nov 23. Am J Med Genet A. 2018. PMID: 29168298

2

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).

Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N. Suzuki Y, et al. Among authors: inaba m. Oncotarget. 2017 Jul 11;8(28):45470-45483. doi: 10.18632/oncotarget.17566. Oncotarget. 2017. PMID: 28525374 Free PMC article.

3

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N. Miyake N, et al. Among authors: inaba m. Clin Genet. 2017 Nov;92(5):554-555. doi: 10.1111/cge.13023. Epub 2017 Aug 3. Clin Genet. 2017. PMID: 28771707

4

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N. Fukushi D, et al. Among authors: inaba m. Gene. 2018 May 20;655:65-70. doi: 10.1016/j.gene.2018.02.049. Epub 2018 Mar 22. Gene. 2018. PMID: 29477873

5

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Kato K, Mizuno S, Inaba M, Fukumura S, Kurahashi N, Maruyama K, Ieda D, Ohashi K, Hori I, Negishi Y, Hattori A, Saitoh S. Kato K, et al. Among authors: inaba m. Brain Dev. 2018 Sep;40(8):678-684. doi: 10.1016/j.braindev.2018.04.008. Epub 2018 May 8. Brain Dev. 2018. PMID: 29752200

6

Mowat-Wilson syndrome: growth charts.

Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: inaba m. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.

7

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.

Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. Suzuki H, et al. Among authors: inaba m. Am J Med Genet A. 2021 Apr;185(4):1182-1186. doi: 10.1002/ajmg.a.62054. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381903

8

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N. Fukushi D, et al. Among authors: inaba m. Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33750005

9

Atypical Sotos syndrome caused by a novel splice site variant.

Minatogawa M, Tsuji T, Inaba M, Kawakami N, Mizuno S, Kosho T. Minatogawa M, et al. Among authors: inaba m. Hum Genome Var. 2022 Nov 16;9(1):41. doi: 10.1038/s41439-022-00219-4. Hum Genome Var. 2022. PMID: 36379925 Free PMC article.

10

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Suzuki Y, Nomura N, Yamada K, Yamada Y, Fukuda A, Hoshino K, Abe S, Kurosawa K, Inaba M, Mizuno S, Wakamatsu N, Hayashi S. Suzuki Y, et al. Among authors: inaba m. Eur J Med Genet. 2023 Dec;66(12):104882. doi: 10.1016/j.ejmg.2023.104882. Epub 2023 Nov 7. Eur J Med Genet. 2023. PMID: 37944854

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