Results 111 to 120 of about 10,200 (202)

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype [PDF]

, 2004
Peter Bauer
openalex   +1 more source

Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy. [PDF]

PLoS One, 2019
Soh YQ, Peh Swee Lim G, Htoon HM, Gong X, Mootha VV, Vithana EN, Kocaba V, Mehta JS.   +7 more
europepmc   +1 more source

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. [PDF]

Cornea, 2019
Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.   +18 more
europepmc   +1 more source

Base excision repair of oxidative DNA damage coupled with removal of a CAG repeat hairpin attenuates trinucleotide repeat expansion [PDF]

, 2014
Meng Xu, Yanhao Lai, Justin M. Torner, Yanbin Zhang, Zunzhen Zhang, Yuan Liu   +5 more
openalex   +1 more source

Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches. [PDF]

RNA
Jung S, Richter JD.
europepmc   +1 more source

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1 [PDF]

, 2015
Grace Xiao-Yun Lim, Yu Ling Loo, Farmaditya EP Mundhofir, Ferdy Kurniawan Cayami, Sultana MH Faradz, Indhu‐Shree Rajan‐Babu, Samuel S. Chong, Yvonne Y. Koh, Ming Guan   +8 more
openalex   +1 more source

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Wieben ED, Baratz KH, Aleff RA, Kalari KR, Tang X, Maguire LJ, Patel SV, Fautsch MP.   +7 more
europepmc   +1 more source

Increased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion. [PDF]

Cornea
Xing C, Schultis S, Bondar V, Gong X, Whitson JT, Mootha VV.   +5 more
europepmc   +1 more source

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. [PDF]

Nucleic Acids Res, 2018
Dastidar S, Ardui S, Singh K, Majumdar D, Nair N, Fu Y, Reyon D, Samara E, Gerli MFM, Klein AF, De Schrijver W, Tipanee J, Seneca S, Tulalamba W, Wang H, Chai YC, In't Veld P, Furling D, Tedesco FS, Vermeesch JR, Joung JK, Chuah MK, VandenDriessche T.   +22 more
europepmc   +1 more source

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

Molecular Genetics and Metabolism Reports, 2016
Massimiliano Filosto, Filippo M. Santorelli   +1 more
doaj   +1 more source