Results 181 to 190 of about 40,467 (259)

Erratum: The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the <em> AR </em> gene

, 2020
Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Stefani Harumsari, Nurin Aisyiyah Listyasari, Hardian Hardian, Agustini Utari, Sultana MH Faradz   +6 more
openalex   +2 more sources

Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease

, 1995
Brian P. Brooks, Kenneth H. Fischbeck
openalex   +1 more source

Assessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging. [PDF]

Ophthalmol Sci
Poh SSJ, Tey KY, Peh GSL, Neo DJH, Htoon HM, Lee EKL, Soh YQ, Mootha VV, Mehta JS.   +8 more
europepmc   +1 more source

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats. [PDF]

Int J Mol Sci
Park J, Dufke C, Fleszar Z, Schlotterbek M, Buena-Atienza E, Stühn LG, Gross C, Sturm M, Ossowski S, Schöls L, Riess O, Haack TB.   +11 more
europepmc   +1 more source

Protocol considerations for multigenerational blinding of preimplantation genetic testing for a monogenic condition for Huntington disease: a case report. [PDF]

F S Rep
Raine S, Siegel DR, Rabkina L, Nassab P, Cervero A, Martinez-Conejero JA, Elfman H, Polotsky AJ.   +7 more
europepmc   +1 more source

Comprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy. [PDF]

Sci Rep
Yuasa T, Tokuda Y, Nakano M, Tashiro K, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N, Okumura N.   +8 more
europepmc   +1 more source

EXPANSION OF TRINUCLEOTIDE REPEATS IN HUMAN DNA AND MOLECULAR DIAGNOSIS OF TRINUCLEOTIDE EXPANSION DISORDERS: INTEGRATIVE REVIEW

André Luiz Pedrosa, Leoncio Rabelo Borges Filho   +1 more
openalex   +2 more sources

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. [PDF]

Brain Commun
Livanos I, Votsi C, Michailidou K, Pellerin D, Brais B, Zuchner S, Pantzaris M, Kleopa KA, Zamba Papanicolaou E, Christodoulou K.   +9 more
europepmc   +1 more source

Two Decades of Huntington's Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges. [PDF]

Neurol Int
Levkova M, Tsalta-Mladenov M, Stoyanova M, Hachmeriyan M, Angelova L, Kaprelyan A.   +5 more
europepmc   +1 more source

Associations between measures of oestrogen exposure and severity of Fuchs endothelial corneal dystrophy. [PDF]

BMJ Open Ophthalmol
Petrela RB, Chhetri CD, Najafi A, Zhang Z, A Rinkoski T, Wieben ED, Fautsch MP, Chakraborty S, E Millen A, Patel SP.   +9 more
europepmc   +1 more source