Results 111 to 120 of about 10,792 (169)

Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management. [PDF]

Noro Psikiyatr Ars
Canbek S, Manazoğlu HC, Dinçtürk Y, Aydın B, Yarar MH, Eser M.   +5 more
europepmc   +1 more source

Novel African American Colorectal Cancer <i>MSH3</i> Variants Associate With Major Genomic Instability. [PDF]

Hum Mutat
Rashid M, Brim H, Teng S, Sobitan A, Cruz-Cosme R, Qiyi T, Koi M, Casazza K, Surtees JA, Carethers JM, Ashktorab H.   +10 more
europepmc   +1 more source

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women. [PDF]

Hum Reprod
Morbey EJ, Day FR, Wright DJ, Murzynowski JRA, McGlacken-Byrne SM, Murray A, Ong KK, Perry JRB.   +7 more
europepmc   +1 more source

Recurrent migraine with visual aura as the primary phenotype of familial neuronal intranuclear inclusion disease. [PDF]

Front Neurol
Zhang Q, Gao M, Piao Y, Huang S, Nan H, Wang Z, Li J.   +6 more
europepmc   +1 more source

Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review. [PDF]

Genes (Basel)
Stunf Pukl S.
europepmc   +1 more source

Isotopic H/D Exchange in Hydrogen Bonds Between the Nitrogenous Bases of the CAG Repeat Tract Makes It Possible to Stabilize Its Expansion in the <i>ATXN2</i> Gene. [PDF]

Biomedicines
Dorohova A, Velázquez-Pérez L, Drobotenko M, Lyasota O, Hernandez-Caceres JL, Rodriguez-Labrada R, Svidlov A, Leontyeva O, Nechipurenko Y, Dzhimak S.   +9 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion. [PDF]

Int J Mol Sci
Asherah N, Lian M, Tan AS, Taguchi R, Chua P, Liu S, Lee CG, Chong SS.   +7 more
europepmc   +1 more source

DNA Methylation and Trinucleotide Repeat Expansion Diseases

, 2012
openaire   +2 more sources

The selective dynamics of interruptions at short tandem repeats. [PDF]

Genetics
Goldberg ME, Dashnow H, Harris K, Quinlan AR.   +3 more
europepmc   +1 more source

Molecular Studies of <i>TCF4</i> Gene and Correlation with Late-Onset Fuchs Endothelial Corneal Dystrophy in the Greek Population: A Novel Cost-Effective Diagnostic Algorithm. [PDF]

Int J Mol Sci
Petri N, Margoni A, Droutsas K, Diamantopoulou A, Kappos N, Papavassiliou AG, Moschos MM, Kroupis C.   +7 more
europepmc   +1 more source