Masuda K - Search Results

1

Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.

Eguchi M, Ozaki E, Yamauchi T, Ohta M, Higaki T, Masuda K, Imoto I, Ishii E, Eguchi-Ishimae M. Eguchi M, et al. Among authors: masuda k. Am J Med Genet A. 2018 Feb;176(2):351-358. doi: 10.1002/ajmg.a.38578. Epub 2017 Dec 19. Am J Med Genet A. 2018. PMID: 29265763 Review.

2

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

3

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

4

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

5

Detection of 1p36 deletion by clinical exome-first diagnostic approach.

Watanabe M, Hayabuchi Y, Ono A, Naruto T, Horikawa H, Kohmoto T, Masuda K, Nakagawa R, Ito H, Kagami S, Imoto I. Watanabe M, et al. Among authors: masuda k. Hum Genome Var. 2016 May 12;3:16006. doi: 10.1038/hgv.2016.6. eCollection 2016. Hum Genome Var. 2016. PMID: 28428889 Free PMC article.

6

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

Okamoto N, Kohmoto T, Naruto T, Masuda K, Imoto I. Okamoto N, et al. Among authors: masuda k. Hum Genome Var. 2018 Apr 5;5:18015. doi: 10.1038/hgv.2018.15. eCollection 2018. Hum Genome Var. 2018. PMID: 29644084 Free PMC article.

7

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.

8

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.

Watanabe M, Nakagawa R, Kohmoto T, Naruto T, Suga KI, Goji A, Horikawa H, Masuda K, Kagami S, Imoto I. Watanabe M, et al. Among authors: masuda k. Hum Genome Var. 2016 Nov 10;3:16037. doi: 10.1038/hgv.2016.37. eCollection 2016. Hum Genome Var. 2016. PMID: 27867521 Free PMC article.

9

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.

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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