American journal of medical genetics. Part A e63614 2024年4月
Sonic hedgehog signaling molecule (SHH) is a key molecule in the cilia-mediated signaling pathway and a critical morphogen in embryogenesis. The association between loss-of-function variants of SHH and holoprosencephaly is well established. In mic...
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using...
Tasuku Mariya Yui Shichiri Takeshi Sugimoto Rie Kawamura Syunsuke Miyai Hidehito Inagaki Eiji Sugihara Keiko Ikeda Tsuyoshi Baba Aki Ishikawa Michiko Ammae Yoshiharu Nakaoka Tsuyoshi Saito Akihiro Sakurai Hiroki Kurahashi
Prenatal diagnosis 43(3) 304-313 2023年2月
OBJECTIVE: Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders such as Pelizaeus-Merzbacher disease (PMD) and MECP2 duplication syndrome. For couples who required a PGT...
Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...
お知らせ・マニュアル
研究推進本部