Shima H - Search Results

1

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.

Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Nagata Y, et al. Among authors: shima h. Blood. 2018 Nov 22;132(21):2309-2313. doi: 10.1182/blood-2017-05-787390. Epub 2018 Oct 15. Blood. 2018. PMID: 30322869 Free PMC article. No abstract available.

2

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

3

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

4

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.

5

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.

Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Wilson DB, et al. Among authors: shima h. Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26747. Epub 2017 Aug 17. Pediatr Blood Cancer. 2018. PMID: 28834235 No abstract available.

6

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

7

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. Jeffries L, et al. Among authors: shima h. Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21. Am J Med Genet A. 2018. PMID: 29266745

8

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS. Sarthy J, et al. Among authors: shima h. Blood Adv. 2018 Jan 23;2(2):120-125. doi: 10.1182/bloodadvances.2017012682. Blood Adv. 2018. PMID: 29365320 Free PMC article.

9

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.

10

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report.

Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y. Yoshizaki K, et al. Among authors: shima h. Clin Pediatr Endocrinol. 2019;28(4):147-153. doi: 10.1297/cpe.28.147. Epub 2019 Oct 19. Clin Pediatr Endocrinol. 2019. PMID: 31666768 Free PMC article.

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