Hata K - Search Results

1

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

Nagayama S, Takahashi H, Hasegawa F, Hori A, Kizami S, Furukawa R, Horie K, Ogoyama M, Hata K, Fujiwara H. Nagayama S, et al. Among authors: hata k. Congenit Anom (Kyoto). 2024 Jul;64(4):177-181. doi: 10.1111/cga.12569. Epub 2024 Apr 18. Congenit Anom (Kyoto). 2024. PMID: 38637985

2

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.

Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K. Takano T, et al. Among authors: hata k. Eur J Med Genet. 2021 Nov;64(11):104332. doi: 10.1016/j.ejmg.2021.104332. Epub 2021 Sep 2. Eur J Med Genet. 2021. PMID: 34481091

3

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.

Hori A, Ogata-Kawata H, Sasaki A, Takahashi K, Taniguchi K, Migita O, Kawashima A, Okamoto A, Sekizawa A, Sago H, Takada F, Nakabayashi K, Hata K. Hori A, et al. Among authors: hata k. BMC Res Notes. 2021 Sep 26;14(1):380. doi: 10.1186/s13104-021-05793-4. BMC Res Notes. 2021. PMID: 34565457 Free PMC article.

4

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Hori A, Migita O, Kawaguchi-Kawata R, Narumi-Kishimoto Y, Takada F, Hata K. Hori A, et al. Among authors: hata k. Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6. Hum Genome Var. 2021. PMID: 34716296 Free PMC article.

5

Confined placental mosaicism of trisomy 6 detected through genome-wide NIPT was associated with placental abruption.

Nishiyama M, Wada S, Hasegawa F, Uehara Y, Ozaki M, Hata K, Ito Y, Sago H. Nishiyama M, et al. Among authors: hata k. Clin Case Rep. 2021 Dec 5;9(12):e05155. doi: 10.1002/ccr3.5155. eCollection 2021 Dec. Clin Case Rep. 2021. PMID: 34917372 Free PMC article.

6

DNA methylation analysis of cord blood samples in neonates born to gestational diabetes mothers diagnosed before 24 gestational weeks.

Kasuga Y, Kawai T, Miyakoshi K, Hori A, Tamagawa M, Hasegawa K, Ikenoue S, Ochiai D, Saisho Y, Hida M, Tanaka M, Hata K. Kasuga Y, et al. Among authors: hata k. BMJ Open Diabetes Res Care. 2022 Jan;10(1):e002539. doi: 10.1136/bmjdrc-2021-002539. BMJ Open Diabetes Res Care. 2022. PMID: 35046013 Free PMC article.

7

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.

Hori A, Migita O, Isogawa N, Takada F, Hata K. Hori A, et al. Among authors: hata k. Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w. Hum Genome Var. 2022. PMID: 35595744 Free PMC article.

8

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Uryu H, Migita O, Ozawa M, Kamijo C, Aoto S, Okamura K, Hasegawa F, Okuyama T, Kosuga M, Hata K. Uryu H, et al. Among authors: hata k. Mol Genet Metab Rep. 2022 Sep 28;33:100921. doi: 10.1016/j.ymgmr.2022.100921. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36186840 Free PMC article.

9

A novel FLNA variant in a fetus with skeletal dysplasia.

Oshina K, Kamei Y, Hori A, Hasegawa F, Taniguchi K, Migita O, Itakura A, Hata K. Oshina K, et al. Among authors: hata k. Hum Genome Var. 2022 Dec 13;9(1):45. doi: 10.1038/s41439-022-00224-7. Hum Genome Var. 2022. PMID: 36509760 Free PMC article.

10

Clinical features of fetal hydrothorax associated with mucopolysaccharidosis-VII.

Kamihara Y, Ozawa K, Muromoto J, Sugibayashi R, Wada S, Shibata Y, Hori A, Hasegawa F, Hata K, Sago H. Kamihara Y, et al. Among authors: hata k. J Obstet Gynaecol Res. 2023 Oct;49(10):2538-2543. doi: 10.1111/jog.15744. Epub 2023 Jul 19. J Obstet Gynaecol Res. 2023. PMID: 37469021

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