Yokoi T - Search Results

1

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: yokoi t. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813

2

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. Hossain MA, et al. Among authors: yokoi t. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7. Mol Genet Metab. 2017. PMID: 28087245

3

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Shimbo H, Yokoi T, Aida N, Mizuno S, Suzumura H, Nagai J, Ida K, Enomoto Y, Hatano C, Kurosawa K. Shimbo H, et al. Among authors: yokoi t. Mol Genet Genomic Med. 2017 May 22;5(4):429-437. doi: 10.1002/mgg3.289. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717667 Free PMC article.

4

Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.

Minatogawa M, Iwasaki F, Yokoi T, Nagai J, Sakazume S, Goto H, Kurosawa K. Minatogawa M, et al. Among authors: yokoi t. Am J Med Genet A. 2018 Jul;176(7):1680-1682. doi: 10.1002/ajmg.a.38664. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29737011 No abstract available.

5

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Yokoi T, Saito T, Nagai JI, Kurosawa K. Yokoi T, et al. Congenit Anom (Kyoto). 2019 Mar;59(2):51-52. doi: 10.1111/cga.12292. Epub 2018 Jul 4. Congenit Anom (Kyoto). 2019. PMID: 29896840 No abstract available.

6

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Hayashi S, Yokoi T, Hatano C, Enomoto Y, Tsurusaki Y, Naruto T, Kobayashi M, Ida H, Kurosawa K. Hayashi S, et al. Among authors: yokoi t. Hum Genome Var. 2018 Jun 8;5:11. doi: 10.1038/s41439-018-0011-0. eCollection 2018. Hum Genome Var. 2018. PMID: 29899996 Free PMC article.

7

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K. Yokoi T, et al. Hum Genome Var. 2018 Jul 20;5:20. doi: 10.1038/s41439-018-0019-5. eCollection 2018. Hum Genome Var. 2018. PMID: 30062040 Free PMC article.

8

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: yokoi t. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132

9

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K. Kuroda Y, et al. Among authors: yokoi t. 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

10

Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.

Yokoi T, Sei K, Enomoto Y, Naruto T, Kurosawa K. Yokoi T, et al. Pediatr Int. 2019 Nov;61(11):1169-1171. doi: 10.1111/ped.13962. Epub 2019 Nov 13. Pediatr Int. 2019. PMID: 31724238 No abstract available.

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