Narumi S - Search Results

1

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. Shima H, et al. Among authors: narumi s. Endocr J. 2017 Aug 30;64(8):813-817. doi: 10.1507/endocrj.EJ17-0078. Epub 2017 Jul 28. Endocr J. 2017. PMID: 28659543 Free article.

2

Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin.

Nagasaki K, Narumi S, Asami T, Kikuchi T, Hasegawa T, Uchiyama M. Nagasaki K, et al. Among authors: narumi s. Endocr J. 2008 Oct;55(5):875-8. doi: 10.1507/endocrj.k08e-124. Epub 2008 May 28. Endocr J. 2008. PMID: 18506088 Free 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

TSH resistance revisited.

Narumi S, Hasegawa T. Narumi S, et al. Endocr J. 2015;62(5):393-8. doi: 10.1507/endocrj.EJ15-0131. Epub 2015 Mar 21. Endocr J. 2015. PMID: 25797365 Free article. Review.

5

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T. Takagi M, et al. Among authors: narumi s. Endocr J. 2016 Apr 25;63(4):405-10. doi: 10.1507/endocrj.EJ15-0409. Epub 2016 Jan 15. Endocr J. 2016. PMID: 26781211 Free article.

6

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

7

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: narumi s. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561

8

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. Takagi M, et al. Among authors: narumi s. Endocr J. 2017 Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22. Endocr J. 2017. PMID: 27885216 Free article.

9

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.

Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M. Suzuki E, et al. Among authors: narumi s. Cytogenet Genome Res. 2016;150(2):86-92. doi: 10.1159/000455026. Epub 2017 Jan 19. Cytogenet Genome Res. 2016. PMID: 28099951

10

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M. Nagai K, et al. Among authors: narumi s. Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3. Cytogenet Genome Res. 2017. PMID: 28253503 Free article.

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