Fragile X syndrome: diagnosis by molecular characterization of FMR1 gene and clinical correlation

2018 ◽  
Vol 7 (2) ◽  
pp. 132
Author(s):  
RaniaM Samy ◽  
HodaM Abd El-Ghany ◽  
EmanA Ehssan ◽  
MenatallaK El-Deen ◽  
RashaA Al-Gamal ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Characterization ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Clinical Correlation ◽  
Syndrome Diagnosis

scholarly journals Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

PLoS ONE ◽  
2011 ◽  
Vol 6 (10) ◽  
pp. e26203 ◽  
Author(s):  
Steven D. Sheridan ◽  
Kraig M. Theriault ◽  
Surya A. Reis ◽  
Fen Zhou ◽  
Jon M. Madison ◽  
...  
Keyword(s):  
Stem Cell ◽  
Fragile X Syndrome ◽  
Pluripotent Stem Cell ◽  
Fragile X ◽  
Induced Pluripotent Stem Cell ◽  
Fmr1 Gene ◽  
Cell Models ◽  
Induced Pluripotent ◽  
Stem Cell Models

Roles of ZF5 and CGGBP-20 transcription factors in regulating expression of human FMR1 gene responsible for fragile X-syndrome

2010 ◽  
Vol 4 (1) ◽  
pp. 54-62 ◽  
Author(s):  
P. V. Gulyy ◽  
S. V. Orlov ◽  
E. B. Dizhe ◽  
K. B. Kuteikin-Teplyakov ◽  
I. A. Ignatovich ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Fmr1 Gene

scholarly journals Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

1996 ◽  
Vol 43 (2) ◽  
pp. 383-388
Author(s):  
M Milewski ◽  
M Zygulska ◽  
J Bal ◽  
W H Deelen ◽  
E Obersztyn ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Dna Sequence ◽  
Clinical Features ◽  
Fragile Site ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Repeat Number ◽  
Full Mutation ◽  
Cgg Repeats ◽  
Large Expansion

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

Fragile X Syndrome: Diagnosis, Treatment and Research

JAMA ◽  
2002 ◽  
Vol 288 (20) ◽  
pp. 2615-a-2616
Author(s):  
M. A. Schmidt
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Syndrome Diagnosis

Characterization of the full fragile X syndrome mutation in fetal gametes

1997 ◽  
Vol 15 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Henry E. Malter ◽  
Jane C. Iber ◽  
R. Willemsen ◽  
Esther de Graaff ◽  
Jack C. Tarleton ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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