Shima H - Search Results

1

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.

Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. Katoh-Fukui Y, et al. Among authors: shima h. Hum Genome Var. 2018 Mar 8;5:18006. doi: 10.1038/hgv.2018.6. eCollection 2018. Hum Genome Var. 2018. PMID: 29531775 Free PMC article.

2

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564

3

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. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561

4

Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.

Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Fukami M, et al. Among authors: shima h. Clin Genet. 2017 May;91(5):653-660. doi: 10.1111/cge.12928. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27888607 Review.

5

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: shima h. Cytogenet Genome Res. 2016;150(2):86-92. doi: 10.1159/000455026. Epub 2017 Jan 19. Cytogenet Genome Res. 2016. PMID: 28099951

6

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: shima h. Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3. Cytogenet Genome Res. 2017. PMID: 28253503 Free article.

7

The first Japanese case of central precocious puberty with a novel MKRN3 mutation.

Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. Nishioka J, et al. Among authors: shima h. Hum Genome Var. 2017 May 18;4:17017. doi: 10.1038/hgv.2017.17. eCollection 2017. Hum Genome Var. 2017. PMID: 28546864 Free PMC article.

8

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. 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.

9

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Shima H, et al. J Med Genet. 2018 Feb;55(2):81-85. doi: 10.1136/jmedgenet-2017-105020. Epub 2017 Nov 24. J Med Genet. 2018. PMID: 29175836

10

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.

Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. Shima H, et al. PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018. PLoS One. 2018. PMID: 30403727 Free PMC article.

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