Yamoto K - Search Results

1

Continuous transanal decompression for infants with long- and total-type Hirschsprung's diseases as a bridge to curative surgery: a single-center experience.

Mochizuki K, Shinkai M, Kitagawa N, Take H, Usui H, Hosokawa T, Yamoto K. Mochizuki K, et al. Among authors: yamoto k. Surg Case Rep. 2017 Dec;3(1):42. doi: 10.1186/s40792-017-0318-y. Epub 2017 Mar 10. Surg Case Rep. 2017. PMID: 28283986 Free PMC article.

2

PORCN-related microphthalmia with limb anomalies: Case report and literature review.

Fukahori K, Yamoto K, Saitsu H, Ogata T, Nagasaki K. Fukahori K, et al. Among authors: yamoto k. Am J Med Genet A. 2023 Feb;191(2):636-639. doi: 10.1002/ajmg.a.63048. Epub 2022 Nov 19. Am J Med Genet A. 2023. PMID: 36401583 Review. No abstract available.

3

Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.

Komatsu K, Sakaguchi K, Shimizu D, Yamoto K, Kato F, Miyairi I, Ogata T, Saitsu H. Komatsu K, et al. Among authors: yamoto k. Pediatr Blood Cancer. 2023 Apr;70(4):e30120. doi: 10.1002/pbc.30120. Epub 2022 Dec 5. Pediatr Blood Cancer. 2023. PMID: 36468647 No abstract available.

4

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.

Yamoto K, Saitsu H, Ohkubo Y, Kagami M, Ogata T. Yamoto K, et al. Clin Epigenetics. 2024 Jun 5;16(1):73. doi: 10.1186/s13148-024-01688-w. Clin Epigenetics. 2024. PMID: 38840187 Free PMC article. Review.

5

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Yamoto K, Kato F, Yamoto M, Fukumoto K, Shimizu K, Saitsu H, Ogata T. Yamoto K, et al. Congenit Anom (Kyoto). 2024 Jan;64(1):23-27. doi: 10.1111/cga.12548. Epub 2023 Dec 7. Congenit Anom (Kyoto). 2024. PMID: 38062907

6

Usefulness of a recanalized umbilical vein for vascular reconstruction in pediatric hepatic surgery.

Shinkai M, Mochizuki K, Kitagawa N, Take H, Usui H, Yamoto KN, Fujita S, Ohhama Y. Shinkai M, et al. Among authors: yamoto kn. Pediatr Surg Int. 2016 Jun;32(6):553-8. doi: 10.1007/s00383-016-3893-2. Epub 2016 Apr 15. Pediatr Surg Int. 2016. PMID: 27083897

7

Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing.

Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T. Yamoto K, et al. Clin Case Rep. 2020 Apr 6;8(6):1076-1080. doi: 10.1002/ccr3.2826. eCollection 2020 Jun. Clin Case Rep. 2020. PMID: 32577269 Free PMC article.

8

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T. Yamoto K, et al. Hum Mutat. 2017 Aug;38(8):953-958. doi: 10.1002/humu.23253. Epub 2017 May 29. Hum Mutat. 2017. PMID: 28489339

9

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.

Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. Yamoto K, et al. Am J Med Genet A. 2018 Jan;176(1):139-143. doi: 10.1002/ajmg.a.38535. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29160040 No abstract available.

10

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H. Hiraide T, et al. Among authors: yamoto k. Hum Genet. 2018 Jan;137(1):95-104. doi: 10.1007/s00439-017-1863-y. Epub 2018 Jan 10. Hum Genet. 2018. PMID: 29322246

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