Sakurai A - Search Results

1

Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.

Yamashita K, Fukushima H, Teramoto M, Okita K, Ishikawa A, Sakurai A, Akagi K, Nakase H. Yamashita K, et al. Among authors: sakurai a. Intern Med. 2021 Sep 1;60(17):2719-2724. doi: 10.2169/internalmedicine.6603-20. Epub 2021 Mar 22. Intern Med. 2021. PMID: 33746161 Free PMC article.

2

A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer.

Yamashita K, Suzuki S, Yumita W, Ikeo Y, Uehara Y, Minemura K, Sakurai A, Hashizume K. Yamashita K, et al. Among authors: sakurai a. Endocr J. 2001 Aug;48(4):453-8. doi: 10.1507/endocrj.48.453. Endocr J. 2001. PMID: 11603567 Free article.

3

An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene.

Takeuchi T, Yoto Y, Tsugawa T, Kamasaki H, Kondo A, Ogino J, Hasegawa T, Yama N, Anan S, Uchino S, Ishikawa A, Sakurai A, Tsutsumi H. Takeuchi T, et al. Among authors: sakurai a. Clin Pediatr Endocrinol. 2015 Oct;24(4):185-9. doi: 10.1297/cpe.24.185. Epub 2015 Oct 24. Clin Pediatr Endocrinol. 2015. PMID: 26568659 Free PMC article.

4

A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Takano K, Ogasawara N, Matsunaga T, Mutai H, Sakurai A, Ishikawa A, Himi T. Takano K, et al. Among authors: sakurai a. Hum Genome Var. 2016 Aug 4;3:16023. doi: 10.1038/hgv.2016.23. eCollection 2016. Hum Genome Var. 2016. PMID: 27508084 Free PMC article.

5

Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment.

Yano T, Takahashi R, Yamashita T, Nagano N, Ishikawa A, Sakurai A, Maruyama H, Miura T. Yano T, et al. Among authors: sakurai a. Circ Heart Fail. 2017 Dec;10(12):e004538. doi: 10.1161/CIRCHEARTFAILURE.117.004538. Circ Heart Fail. 2017. PMID: 29203563 No abstract available.

6

A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.

Hiraoka M, Ishikawa A, Matsuzawa F, Aikawa SI, Sakurai A. Hiraoka M, et al. Among authors: sakurai a. Ophthalmic Genet. 2020 Dec;41(6):599-605. doi: 10.1080/13816810.2020.1821383. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940107

7

Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature.

Hirakawa M, Takada K, Sato M, Fujita C, Hayasaka N, Nobuoka T, Sugita S, Ishikawa A, Mizukami M, Ohnuma H, Murase K, Miyanishi K, Kobune M, Takemasa I, Hasegawa T, Sakurai A, Kato J. Hirakawa M, et al. Among authors: sakurai a. World J Gastroenterol. 2020 Nov 14;26(42):6689-6697. doi: 10.3748/wjg.v26.i42.6689. World J Gastroenterol. 2020. PMID: 33268956 Free PMC article. Review.

8

A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.

Mizukami M, Ishikawa A, Miyazaki S, Tsuzuki A, Saito S, Niihori T, Sakurai A. Mizukami M, et al. Among authors: sakurai a. Brain Dev. 2021 Apr;43(4):563-565. doi: 10.1016/j.braindev.2020.12.004. Epub 2020 Dec 24. Brain Dev. 2021. PMID: 33358638 Free article.

9

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.

Hisahara S, Nishiyama A, Tsuda E, Suzuki S, Matsumura A, Ishikawa A, Sakurai A, Motoike IN, Aoki M, Aoki Y, Shimohama S. Hisahara S, et al. Among authors: sakurai a. Neurol Genet. 2021 Jan 12;7(1):e552. doi: 10.1212/NXG.0000000000000552. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33987464 Free PMC article. No abstract available.

10

Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.

Ogawa S, Mariya T, Fujibe Y, Ogawa M, Ikeda K, Mizukami M, Kuno Y, Ishikawa A, Ishioka S, Sakurai A, Saito T. Ogawa S, et al. Among authors: sakurai a. Case Rep Womens Health. 2022 Jan 13;33:e00384. doi: 10.1016/j.crwh.2022.e00384. eCollection 2022 Jan. Case Rep Womens Health. 2022. PMID: 35079579 Free PMC article.

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