Narumi S - Search Results

1

Role of Liquid-Liquid Separation in Endocrine and Living Cells.

Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami M. Akiba K, et al. Among authors: narumi s. J Endocr Soc. 2021 Jul 19;5(10):bvab126. doi: 10.1210/jendso/bvab126. eCollection 2021 Oct 1. J Endocr Soc. 2021. PMID: 34396024 Free PMC article. Review.

2

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: narumi s. PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24. PLoS One. 2012. PMID: 23029363 Free PMC article.

3

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: narumi s. Horm Res Paediatr. 2014;81(2):133-8. doi: 10.1159/000355279. Epub 2014 Jan 18. Horm Res Paediatr. 2014. PMID: 24457197

4

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.

Nakamura Y, Takagi M, Yoshihashi H, Miura M, Narumi S, Hasegawa T, Miyake Y, Hasegawa Y. Nakamura Y, et al. Among authors: narumi s. Am J Med Genet A. 2015 May;167A(5):1171-4. doi: 10.1002/ajmg.a.36996. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712828

5

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T. Takagi M, et al. Among authors: narumi s. Am J Med Genet A. 2015 Jul;167(7):1627-31. doi: 10.1002/ajmg.a.37051. Epub 2015 Apr 9. Am J Med Genet A. 2015. PMID: 25858481

6

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Takagi M, et al. Among authors: narumi s. Am J Med Genet A. 2016 Mar;170(3):795-8. doi: 10.1002/ajmg.a.37481. Epub 2015 Nov 19. Am J Med Genet A. 2016. PMID: 26586363 No abstract available.

7

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Yagi H, et al. Among authors: narumi s. Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26788936 No abstract available.

8

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.

Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T. Takagi M, et al. Among authors: narumi s. Hum Genome Var. 2014 Sep 25;1:14011. doi: 10.1038/hgv.2014.11. eCollection 2014. Hum Genome Var. 2014. PMID: 27081504 Free PMC article.

9

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967

10

A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T. Takagi M, et al. Among authors: narumi s. Clin Endocrinol (Oxf). 2016 Oct;85(4):669-71. doi: 10.1111/cen.13116. Epub 2016 Jun 30. Clin Endocrinol (Oxf). 2016. PMID: 27234692 No abstract available.

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