Eriko Nishi - Search Results

Year	Number of Results
2010	1
2013	2
2014	3
2015	4
2016	5
2017	2
2018	3
2019	3
2020	2
2021	6
2022	3
2023	4
2024	6

1

Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.

Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Among authors: nishi e. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114

2

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T. Yamaguchi T, et al. Among authors: nishi e. Am J Med Genet A. 2019 Jun;179(6):948-957. doi: 10.1002/ajmg.a.61142. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941898 Review.

3

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

Nishi E, Takenouchi T, Miya F, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Mizuno S, Kaname T, Kosaki K, Okamoto N. Nishi E, et al. Am J Med Genet A. 2022 Feb;188(2):446-453. doi: 10.1002/ajmg.a.62533. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34652060

4

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Raible SE, et al. Among authors: nishi e. Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058441 Free PMC article.

5

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Machida O, Shimojima KY, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T. Machida O, et al. Among authors: nishi e. Intractable Rare Dis Res. 2022 Aug;11(3):143-148. doi: 10.5582/irdr.2022.01065. Intractable Rare Dis Res. 2022. PMID: 36200032 Free PMC article.

6

Clinical spectrum of individuals with de novo EBF3 variants or deletions.

Nishi E, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Kaname T, Yamamoto T, Kosaki K, Okamoto N. Nishi E, et al. Am J Med Genet A. 2021 Oct;185(10):2913-2921. doi: 10.1002/ajmg.a.62369. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050706

7

Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.

Shimojima Yamamoto K, Tamura T, Okamoto N, Nishi E, Noguchi A, Takahashi I, Sawaishi Y, Shimizu M, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: nishi e. J Hum Genet. 2023 Nov;68(11):751-757. doi: 10.1038/s10038-023-01181-x. Epub 2023 Jul 10. J Hum Genet. 2023. PMID: 37423943

8

CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.

Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M. Hara-Isono K, et al. Among authors: nishi e. J Med Genet. 2022 Dec;59(12):1241-1246. doi: 10.1136/jmg-2022-108700. Epub 2022 Jul 29. J Med Genet. 2022. PMID: 35906012

9

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Nishi E, Miyake N, Kawamura R, Hosoki K, Hasegawa Y, Matsumoto N, Okamoto N. Nishi E, et al. Am J Med Genet A. 2024 Feb;194(2):268-278. doi: 10.1002/ajmg.a.63424. Epub 2023 Oct 10. Am J Med Genet A. 2024. PMID: 37815018

10

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Unzaki A, Morisada N, Nozu K, Ye MJ, Ito S, Matsunaga T, Ishikura K, Ina S, Nagatani K, Okamoto T, Inaba Y, Ito N, Igarashi T, Kanda S, Ito K, Omune K, Iwaki T, Ueno K, Yahata M, Ohtsuka Y, Nishi E, Takahashi N, Ishikawa T, Goto S, Okamoto N, Iijima K. Unzaki A, et al. Among authors: nishi e. J Hum Genet. 2018 May;63(5):647-656. doi: 10.1038/s10038-018-0429-8. Epub 2018 Mar 2. J Hum Genet. 2018. PMID: 29500469

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

39 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

39 results

Results by year