Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gui-Ping Phang"'
Autor:
Mulias Lian, Vivienne J. Tan, Riho Taguchi, Mingjue Zhao, Gui-Ping Phang, Arnold S. Tan, Shuling Liu, Caroline G. Lee, Samuel S. Chong
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8073 (2024)
Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a neurodegenerative disorder caused by the ATXN3 CAG repeat expansion. Preimplantation genetic testing for monogenic disorders (PGT-M) of SCA3/MJD should include reliable repeat exp
Externí odkaz:
https://doaj.org/article/3e51c8e9494d4f52a1ba306d24de690a
Publikováno v:
The Journal of Molecular Diagnostics. 24:241-252
Methylated FMR1 full-mutation expansions cause fragile X syndrome. FMR1 premutation carriers are susceptible to other late-onset conditions, and women with premutation are at risk of transmitting a fully expanded FMR1 allele to offspring. Identificat
Autor:
Hai-Yang Law, Mingjue Zhao, Yun Ting Soong, Gui Ping Phang, Samuel S. Chong, Chui-Sheun Yoon, Caroline G.L. Lee, Mulias Lian
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(5)
The autosomal dominantly inherited spinocerebellar ataxias (SCAs) can be caused by dynamic mutations of short tandem repeats within various genes. Because of the significant clinical overlap among the various SCA types, molecular screening of multipl
Autor:
Felicia S.H. Cheah, Mingjue Zhao, Gui Ping Phang, Arnold Sia Chye Tan, Anupriya Agarwal, Mulias Lian, Samuel S. Chong
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports
Scientific Reports
Huntington disease (HD) is a lethal neurodegenerative disorder caused by expansion of a CAG repeat within the huntingtin (HTT) gene. Disease prevention can be facilitated by preimplantation genetic testing for this monogenic disorder (PGT-M). We deve
Autor:
Lian, Mulias1 (AUTHOR), Tan, Vivienne J.2 (AUTHOR), Taguchi, Riho2 (AUTHOR), Zhao, Mingjue2 (AUTHOR), Phang, Gui-Ping2 (AUTHOR), Tan, Arnold S.2 (AUTHOR), Liu, Shuling3 (AUTHOR), Lee, Caroline G.4,5 (AUTHOR), Chong, Samuel S.1,2,6,7 (AUTHOR) paecs@nus.edu.sg
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8073. 13p.
Publikováno v:
Genomics & Genetics Weekly; 8/30/2024, p1154-1154, 1p
Autor:
Zhao, Mingjue1, Cheah, Felicia Siew Hong2, Tan, Arnold Sia Chye1,2, Lian, Mulias2, Phang, Gui Ping2, Agarwal, Anupriya3, Chong, Samuel S.1,2,4 paecs@nus.edu.sg
Publikováno v:
Scientific Reports. 11/11/2019, Vol. 9 Issue 1, pN.PAG-N.PAG. 1p.