Masuda K - Search Results

1

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

Morine M, Kohmoto T, Masuda K, Inagaki H, Watanabe M, Naruto T, Kurahashi H, Maeda K, Imoto I. Morine M, et al. Among authors: masuda k. Am J Med Genet A. 2015 Dec;167A(12):3192-6. doi: 10.1002/ajmg.a.37359. Epub 2015 Sep 28. Am J Med Genet A. 2015. PMID: 26780237

2

A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.

Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I. Kohmoto T, et al. Among authors: masuda k. Am J Med Genet A. 2017 Apr;173(4):1082-1086. doi: 10.1002/ajmg.a.38122. Am J Med Genet A. 2017. PMID: 28328141

3

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

Tokaji N, Ito H, Kohmoto T, Naruto T, Takahashi R, Goji A, Mori T, Toda Y, Saito M, Tange S, Masuda K, Kagami S, Imoto I. Tokaji N, et al. Among authors: masuda k. Am J Med Genet A. 2018 Mar;176(3):699-702. doi: 10.1002/ajmg.a.38595. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341476

4

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Naruto T, Okamoto N, Masuda K, Endo T, Hatsukawa Y, Kohmoto T, Imoto I. Naruto T, et al. Among authors: masuda k. Sci Rep. 2015 Jun 10;5:11334. doi: 10.1038/srep11334. Sci Rep. 2015. PMID: 26061757 Free PMC article.

5

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

Kohmoto T, Naruto T, Kobayashi H, Watanabe M, Okamoto N, Masuda K, Imoto I, Okamoto N. Kohmoto T, et al. Among authors: masuda k. Hum Genome Var. 2015 Nov 12;2:15043. doi: 10.1038/hgv.2015.43. eCollection 2015. Hum Genome Var. 2015. PMID: 27081549 Free PMC article.

6

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

Kohmoto T, Shono M, Naruto T, Watanabe M, Suga K, Nakagawa R, Kagami S, Masuda K, Imoto I. Kohmoto T, et al. Among authors: masuda k. Hum Genome Var. 2016 Apr 7;3:16004. doi: 10.1038/hgv.2016.4. eCollection 2016. Hum Genome Var. 2016. PMID: 27081570 Free PMC article.

7

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

Watanabe M, Nakagawa R, Naruto T, Kohmoto T, Suga K, Goji A, Kagami S, Masuda K, Imoto I. Watanabe M, et al. Among authors: masuda k. Hum Genome Var. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016. Hum Genome Var. 2016. PMID: 27656288 Free PMC article.

8

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.

Okamoto N, Watanabe M, Naruto T, Matsuda K, Kohmoto T, Saito M, Masuda K, Imoto I. Okamoto N, et al. Among authors: masuda k. Hum Genome Var. 2017 Jan 19;4:16045. doi: 10.1038/hgv.2016.45. eCollection 2017. Hum Genome Var. 2017. PMID: 28144446 Free PMC article.

9

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.

Okada A, Kohmoto T, Naruto T, Yokota I, Kotani Y, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I. Okada A, et al. Among authors: masuda k. Hum Genome Var. 2017 Aug 3;4:17031. doi: 10.1038/hgv.2017.31. eCollection 2017. Hum Genome Var. 2017. PMID: 28791128 Free PMC article.

10

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

Okamoto N, Kohmoto T, Naruto T, Masuda K, Komori T, Imoto I. Okamoto N, et al. Among authors: masuda k. Hum Genome Var. 2017 Aug 17;4:17036. doi: 10.1038/hgv.2017.36. eCollection 2017. Hum Genome Var. 2017. PMID: 28819563 Free PMC article.

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