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（最終更新日：2026-08-26 15:02:05）   オホリ サチコ   OHORI SACHIKO   尾堀佐知子    所属   医学部医学科 臨床検査医学    職種   講師

■ 学術雑誌 1. 原著　 SVA retrotrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer 2025/10 2. その他　 Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation 2025/09 3. その他　 Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay 2025/08 4. 原著　 Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies 2024/09

■ 学会発表 1. TUBA1A遺伝子によるチューブリノパチーの一例 （ポスター，一般） 2026/04/19 2. A Female Case of Osteopathia Striata with Cranial Sclerosis Due to a Known AMER1 Variant Requiring Multiple Surgeries  2025/12/20 3. A Case of SMC3-related CdLS Unraveled by WES After a Diagnostic Odyssey （ポスター） 2025/12/19 4. Novel Compound Heterozygous Splice Site Variants in COL11A1 Cause Autosomal Recessive Stickler Syndrome （ポスター） 2025/12/19 5. Application of nanopore Flongle sequencing for analyzing pathogenic retrotransposon insertions in BRCA1 and BRCA2 （口頭発表，一般） 2025/12/18 6. Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targetde sequencing causes hereditary breast and ovarian cancre （ポスター） 2025/10/15 7. 臨床像と遺伝カウンセリングに困難を生じた長大なCTGりぴーと数のあった筋強直性ジストロフィーの2例 （ポスター，一般） 2025/08/01 8. Pathological Evaluation Methods in Contralateral Risk-reduction Mastectomy in Patients with BRCA Positive Breast Cancer （ポスター，一般） 2024/10/12 9. A case of CDKL5 deficiency disorder diagnosed by whole genome sequencing （ポスター，一般） 2024/10/11 10. The feelings of the family of a child diagnosed with SMA following extended NBS and the limitations of genetic analysis （ポスター，一般） 2024/10/10 5件表示 全件表示(10件)