Masunaga Y - Search Results

1

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Masunaga Y, et al. Endocr J. 2021 May 28;68(5):605-611. doi: 10.1507/endocrj.EJ20-0706. Epub 2021 Mar 11. Endocr J. 2021. PMID: 33583911 Free article.

2

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: masunaga y. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895

3

IGF2 Mutations.

Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. Masunaga Y, et al. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.

4

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. Ohishi A, et al. Among authors: masunaga y. J Hum Genet. 2020 Jan;65(2):181-186. doi: 10.1038/s10038-019-0690-5. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645653

5

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.

Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Masunaga Y, et al. Endocr J. 2021 Jan 28;68(1):111-117. doi: 10.1507/endocrj.EJ20-0291. Epub 2020 Sep 3. Endocr J. 2021. PMID: 32879144 Free article. Review.

6

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.

Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. Uchiyama H, et al. Among authors: masunaga y. Eur J Med Genet. 2020 Nov;63(11):104060. doi: 10.1016/j.ejmg.2020.104060. Epub 2020 Sep 2. Eur J Med Genet. 2020. PMID: 32889144

7

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.

Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M. Igarashi M, et al. Among authors: masunaga y. Sci Rep. 2020 Oct 15;10(1):17375. doi: 10.1038/s41598-020-74405-1. Sci Rep. 2020. PMID: 33060765 Free PMC article.

8

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.

Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Omark J, et al. Among authors: masunaga y. J Hum Genet. 2021 Apr;66(4):439-443. doi: 10.1038/s10038-020-00858-x. Epub 2020 Oct 16. J Hum Genet. 2021. PMID: 33067531

9

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H. Hiraide T, et al. Among authors: masunaga y. Clin Genet. 2021 Jul;100(1):40-50. doi: 10.1111/cge.13951. Epub 2021 Mar 8. Clin Genet. 2021. PMID: 33644862

10

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.

Masunaga Y, Kagami M, Kato F, Usui T, Yonemoto T, Mishima K, Fukami M, Aoto K, Saitsu H, Ogata T. Masunaga Y, et al. Clin Epigenetics. 2021 Apr 7;13(1):73. doi: 10.1186/s13148-021-01062-0. Clin Epigenetics. 2021. PMID: 33827678 Free PMC article.

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