Okano S - Search Results

1

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H. Takahashi S, et al. Among authors: okano s. Mol Cytogenet. 2015 Oct 31;8:84. doi: 10.1186/s13039-015-0186-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 26523152 Free PMC article.

2

Effectiveness of High-dose Spironolactone Therapy in a Patient with Recurrent Protein-losing Enteropathy after the Fontan Procedure.

Okano S, Sugimoto M, Takase M, Iseki K, Kajihama A, Azuma H. Okano S, et al. Intern Med. 2016;55(12):1611-4. doi: 10.2169/internalmedicine.55.6303. Epub 2016 Jun 15. Intern Med. 2016. PMID: 27301514 Free article.

3

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms.

Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H. Tanaka R, et al. Among authors: okano s. eNeurologicalSci. 2017 Jan 31;6:80-82. doi: 10.1016/j.ensci.2017.01.002. eCollection 2017 Mar. eNeurologicalSci. 2017. PMID: 29260015 Free PMC article.

4

Congenital basal meningoceles with different outcomes: a case series.

Okano S, Tanaka R, Okayama A, Tsuchida E, Nohara F, Suzuki N, Okamoto T, Nagaya K, Takahashi S, Azuma H. Okano S, et al. J Med Case Rep. 2017 Dec 27;11(1):359. doi: 10.1186/s13256-017-1497-7. J Med Case Rep. 2017. PMID: 29279052 Free PMC article.

5

Life-threatening muscle complications of COL4A1-related disorder.

Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H. Okano S, et al. Brain Dev. 2020 Jan;42(1):93-97. doi: 10.1016/j.braindev.2019.09.001. Epub 2019 Sep 18. Brain Dev. 2020. PMID: 31540749

6

Wisconsin syndrome with brain volume laterality: a case report and review of the literature.

Okano S, Makita Y, Kimura K, Fukuda I, Miyamoto A, Tanaka H. Okano S, et al. J Med Case Rep. 2022 Apr 16;16(1):153. doi: 10.1186/s13256-022-03332-8. J Med Case Rep. 2022. PMID: 35428363 Free PMC article. Review.

7

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I.

Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I. Okano S, et al. Hum Genome Var. 2019 Jan 28;6:8. doi: 10.1038/s41439-019-0037-y. eCollection 2019. Hum Genome Var. 2019. PMID: 30774966 Free PMC article.

8

Genitopatellar syndrome: the first reported case in Japan.

Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. Okano S, et al. Hum Genome Var. 2018 May 28;5:8. doi: 10.1038/s41439-018-0010-1. eCollection 2018. Hum Genome Var. 2018. PMID: 29899993 Free PMC article.

9

Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.

Okano S, Takase M, Iseki K, Toriumi N, Kaneda M, Kunishima S. Okano S, et al. J Pediatr Hematol Oncol. 2015 Aug;37(6):e352-5. doi: 10.1097/MPH.0000000000000379. J Pediatr Hematol Oncol. 2015. PMID: 26056797

10

Severe gastrointestinal symptoms caused by a novel DDX3X variant.

Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. Okano S, et al. Eur J Med Genet. 2020 Dec;63(12):104058. doi: 10.1016/j.ejmg.2020.104058. Epub 2020 Sep 5. Eur J Med Genet. 2020. PMID: 32896648

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