Publications by authors named "Miki Tanoshima"
Article Synopsis
- Turner syndrome is a genetic disorder caused by the deletion of one X chromosome, leading to diverse karyotypes and phenotypes, but predicting phenotypes remains challenging due to mosaicism.
- A study included 487 Turner women with non-mosaic X chromosome structural rearrangements and found prevalence rates of short stature (72.4%) and ovarian dysfunction (78.8%) linked to specific deletion groups.
- Understanding the specific X chromosome breakpoints is crucial for managing Turner syndrome, particularly for predicting and addressing ovarian dysfunction and future fertility issues.
Nail-patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.
View Article and Find Full Text PDFKey Clinical Message: A rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer.
Abstract: A 34-year-old woman with breast cancer and : p.Gln3047Ter was treated with olaparib.