Murakami H - Search Results

1

Discordant phenotype caused by CASK mutation in siblings with NF1.

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.

2

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K. Kuroda Y, et al. Among authors: murakami h. Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev.2019.02.007. Epub 2019 Feb 20. Brain Dev. 2019. PMID: 30795918

3

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K. Kuroda Y, et al. Among authors: murakami h. Clin Genet. 2019 Jun;95(6):713-717. doi: 10.1111/cge.13530. Epub 2019 Apr 11. Clin Genet. 2019. PMID: 30847897

4

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.

Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K. Murakami H, et al. Congenit Anom (Kyoto). 2020 May;60(3):91-93. doi: 10.1111/cga.12350. Epub 2019 Jul 29. Congenit Anom (Kyoto). 2020. PMID: 31322785 No abstract available.

5

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.

Nishimura N, Murakami H, Saito T, Masuno M, Kurosawa K. Nishimura N, et al. Among authors: murakami h. Congenit Anom (Kyoto). 2020 Jul;60(4):128-130. doi: 10.1111/cga.12356. Epub 2019 Oct 21. Congenit Anom (Kyoto). 2020. PMID: 31595586 No abstract available.

6

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Ikeda A, et al. Among authors: murakami h. Epilepsy Behav Rep. 2019 Dec 5;13:100349. doi: 10.1016/j.ebr.2019.100349. eCollection 2020. Epilepsy Behav Rep. 2019. PMID: 31879735 Free PMC article.

7

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Murakami H, Uehara T, Tsurusaki Y, Enomoto Y, Kuroda Y, Aida N, Kosaki K, Kurosawa K. Murakami H, et al. Brain Dev. 2020 Mar;42(3):289-292. doi: 10.1016/j.braindev.2019.12.008. Epub 2020 Jan 16. Brain Dev. 2020. PMID: 31955925

8

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Takizaki N, Tsurusaki Y, Katsumata K, Enomoto Y, Murakami H, Muroya K, Ishikawa H, Aida N, Nishimura G, Kurosawa K. Takizaki N, et al. Among authors: murakami h. Hum Genome Var. 2020 Feb 4;7:1. doi: 10.1038/s41439-020-0090-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32047638 Free PMC article.

9

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.

Nishimura N, Murakami H, Hayashi T, Sato H, Kurosawa K. Nishimura N, et al. Among authors: murakami h. Congenit Anom (Kyoto). 2020 Sep;60(5):153-155. doi: 10.1111/cga.12371. Epub 2020 Apr 16. Congenit Anom (Kyoto). 2020. PMID: 32277509 No abstract available.

10

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K. Nishimura N, et al. Among authors: murakami h. Brain Dev. 2020 Oct;42(9):639-645. doi: 10.1016/j.braindev.2020.05.009. Epub 2020 Jun 19. Brain Dev. 2020. PMID: 32565002

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