Imagawa K - Search Results

1

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Saeki S, Enokizono T, Imagawa K, Fukushima H, Kajikawa D, Sakai A, Tanaka M, Ohto T, Suzuki H, Uehara T, Takenouchi T, Kenjiro K, Takada H. Saeki S, et al. Among authors: imagawa k. Clin Case Rep. 2019 Sep 24;7(11):2059-2063. doi: 10.1002/ccr3.2377. eCollection 2019 Nov. Clin Case Rep. 2019. PMID: 31788251 Free PMC article.

2

Genotyping NUDT15 can predict the dose reduction of 6-MP for children with acute lymphoblastic leukemia especially at a preschool age.

Suzuki H, Fukushima H, Suzuki R, Hosaka S, Yamaki Y, Kobayashi C, Sakai A, Imagawa K, Iwabuchi A, Yoshimi A, Nakao T, Kato K, Tsuchida M, Kiyokawa N, Koike K, Noguchi E, Fukushima T, Sumazaki R. Suzuki H, et al. Among authors: imagawa k. J Hum Genet. 2016 Sep;61(9):797-801. doi: 10.1038/jhg.2016.55. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193222

3

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

Ohto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Ohto T, et al. Among authors: imagawa k. Hum Genome Var. 2017 Aug 10;4:17033. doi: 10.1038/hgv.2017.33. eCollection 2017. Hum Genome Var. 2017. PMID: 28808579 Free PMC article.

4

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.

Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Enokizono T, et al. Among authors: imagawa k. Am J Med Genet A. 2017 Oct;173(10):2821-2825. doi: 10.1002/ajmg.a.38405. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815892

5

Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

Imagawa K, Hayashi H, Sabu Y, Tanikawa K, Fujishiro J, Kajikawa D, Wada H, Kudo T, Kage M, Kusuhara H, Sumazaki R. Imagawa K, et al. J Hum Genet. 2018 May;63(5):569-577. doi: 10.1038/s10038-018-0431-1. Epub 2018 Mar 5. J Hum Genet. 2018. PMID: 29507376 Review.

6

Interinstitutional patient transfers between rapid chemotherapy cycles were feasible to utilize proton beam therapy for pediatric Ewing sarcoma family of tumors.

Nakao T, Fukushima H, Fukushima T, Suzuki R, Hosaka S, Yamaki Y, Kobayashi C, Iwabuchi A, Imagawa K, Sakai A, Shinkai T, Masumoto K, Sakashita S, Masumoto T, Mizumoto M, Sumazaki R, Sakurai H. Nakao T, et al. Among authors: imagawa k. Rep Pract Oncol Radiother. 2018 Sep-Oct;23(5):442-450. doi: 10.1016/j.rpor.2018.08.006. Epub 2018 Sep 5. Rep Pract Oncol Radiother. 2018. PMID: 30197580 Free PMC article.

7

Schuurs-Hoeijmakers syndrome in two patients from Japan.

Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Among authors: imagawa k. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754

8

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.

Ueno Y, Enokizono T, Fukushima H, Ohto T, Imagawa K, Tanaka M, Sakai A, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. Ueno Y, et al. Among authors: imagawa k. Hum Genome Var. 2019 May 23;6:25. doi: 10.1038/s41439-019-0056-8. eCollection 2019. Hum Genome Var. 2019. PMID: 31149344 Free PMC article.

9

Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients.

Uehara T, Morino S, Oishi K, Nakamura Y, Togashi N, Imaizumi M, Nishimura S, Okada S, Yara A, Fukushima H, Imagawa K, Takada H. Uehara T, et al. Among authors: imagawa k. Pediatr Infect Dis J. 2021 May 1;40(5):460-463. doi: 10.1097/INF.0000000000003060. Pediatr Infect Dis J. 2021. PMID: 33470775

10

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.

Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. Hatano M, et al. Among authors: imagawa k. Am J Med Genet A. 2021 Apr;185(4):1113-1119. doi: 10.1002/ajmg.a.62084. Epub 2021 Jan 27. Am J Med Genet A. 2021. PMID: 33506645

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