Results 131 to 140 of about 19,593 (221)

The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. [PDF]

Invest Ophthalmol Vis Sci, 2023
Hu J, Gong X, Johnson ST, Corey DR, Mootha VV.   +4 more
europepmc   +1 more source

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes [PDF]

, 1997
Mark Kellett, Nicholas Fletcher, Nicholas Wood, T P Enevoldson   +3 more
openalex   +1 more source

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Frontiers in Genetics, 2018
Background:FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on ...
Vivienne J. Tan, Mulias Lian, Sultana M.H. Faradz, Tri I. Winarni, Samuel S. Chong, Samuel S. Chong, Samuel S. Chong   +6 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

The Role of the Immune System in Triplet Repeat Expansion Diseases

Mediators of Inflammation, 2015
Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes.
Marta Olejniczak, Martyna O. Urbanek, Wlodzimierz J. Krzyzosiak   +2 more
doaj   +1 more source

Macular Degeneration Associated With Aberrant Expansion of Trinucleotide Repeat of the SCA7 Gene in 2 Japanese Families [PDF]

, 2000
Toshiaki Abe
openalex   +1 more source

Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion. [PDF]

Cornea, 2021
Kinariwala BB, Xu TT, Baratz KH, Aleff RA, Patel SV, Maguire LJ, Fautsch MP, Wieben ED, Millen AE, Patel SP.   +9 more
europepmc   +1 more source

Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich. [PDF]

Adv Biomed Res, 2021
Joz Abbasalian Z, Khanahmad H, Tabatabaiefar MA.   +2 more
europepmc   +1 more source

Expansion ofCTG18.1Trinucleotide Repeat inTCF4Is a Potent Driver of Fuchs' Corneal Dystrophy [PDF]

, 2015
Shivakumar Vasanth, Allen O. Eghrari, Briana C. Gapsis, Jiangxia Wang, Nicolas F. Haller, Walter J. Stark, Nicholas Katsanis, S. Amer Riazuddin, John D. Gottsch   +8 more
openalex   +1 more source

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]

, 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I, Barbot, C, Barros, J, Coelho, J, Ferreirinha, F, Ferro, A, Guimarães, L, Januário, C, Mendonça, P, Miranda, C, Moreira, MC, Pinto-Basto, J, Poirier, J, Silveira, I, Tuna, A, Vale, J   +15 more
core