scholarly journals Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

2021 ◽  
Vol 41 (4) ◽  
pp. 394-400
Author(s):  
Hyunjung Gu ◽  
Man Jin Kim ◽  
Dahae Yang ◽  
Ji Yun Song ◽  
Sung Im Cho ◽  
...  
Keyword(s):  
Performance Evaluation ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Diagnostic Methods ◽  
Triplet Repeat ◽  
And Performance

Solution Structure of a DNA Quadruplex Containing the Fragile X Syndrome Triplet Repeat

1995 ◽  
Vol 254 (4) ◽  
pp. 638-656 ◽  
Author(s):  
Abdelali Kettani ◽  
Ajay R. Kumar ◽  
Dinshaw J. Patel
Keyword(s):  
Fragile X Syndrome ◽  
Solution Structure ◽  
Fragile X ◽  
Triplet Repeat ◽  
Dna Quadruplex

scholarly journals R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

PLoS Genetics ◽  
2014 ◽  
Vol 10 (5) ◽  
pp. e1004318 ◽  
Author(s):  
Matthias Groh ◽  
Michele M. P. Lufino ◽  
Richard Wade-Martins ◽  
Natalia Gromak
Keyword(s):  
Gene Silencing ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Friedreich Ataxia ◽  
Triplet Repeat ◽  
Repeat Expansions

Language in boys with fragile X syndrome

2006 ◽  
Vol 33 (1) ◽  
pp. 125-144 ◽  
Author(s):  
YONATA LEVY ◽  
RIKI GOTTESMAN ◽  
ZVI BOROCHOWITZ ◽  
MOSHE FRYDMAN ◽  
MICHAL SAGI
Keyword(s):  
Fragile X Syndrome ◽  
Language Production ◽  
Fragile X ◽  
Current Paper ◽  
Typically Developing ◽  
Verbal Language ◽  
Language Level ◽  
Utterance Length ◽  
And Performance

The current paper reports of language production in 15 Hebrew-speaking boys, aged 9;0–13;0, with fully methylated, non-mosaic fragile X syndrome and no concomitant diagnosis of autism. Contrary to expectations, seven children were non-verbal. Language production in the verbal children was studied in free conversations and in context-bound speech. Despite extra caution in calculating MLU, participants' language level was not predicted by mean utterance length. Context bound speech resulted in grammatically more advanced performance than free conversation, and performance in both contexts differed in important ways from performance of typically developing MLU-matched controls. The relevance of MLU as a predictor of productive grammar in disordered populations is briefly discussed.

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