Reactivation of the FMR1 Gene

2017 ◽  
pp. 341-360
Author(s):  
Elisabetta Tabolacci ◽  
Pietro Chiurazzi
Keyword(s):  
Fmr1 Gene

Expansion of an intermediate allele of the FMR1 gene in only two generations

2005 ◽  
Vol 68 (5) ◽  
pp. 471-473 ◽  
Author(s):  
A Zuñiga ◽  
J Juan ◽  
M Mila ◽  
A Guerrero
Keyword(s):  
Fmr1 Gene ◽  
Intermediate Allele ◽  
Two Generations

A New Method for FMR1 Gene Methylation Screening by Multiplex Methylation-Specific Real-Time Polymerase Chain Reaction

2011 ◽  
Vol 15 (6) ◽  
pp. 387-393 ◽  
Author(s):  
Marjanu Hikmah Elias ◽  
Ravindran Ankathil ◽  
Abdul Razak Salmi ◽  
Wanna Sudhikaran ◽  
Pornprot Limprasert ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
New Method ◽  
Fmr1 Gene ◽  
Gene Methylation ◽  
Chain Reaction ◽  
Polymerase Chain

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.

scholarly journals FMR1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Fmr1 Gene

Detection of FMR1-gene in Takotsubo cardiomyopathy: A new piece in the puzzle

2009 ◽  
Vol 137 (3) ◽  
pp. e81-e83 ◽  
Author(s):  
Tilo Kleinfeldt ◽  
Henrik Schneider ◽  
Ibrahim Akin ◽  
Stefan Kische ◽  
R. Gökmen Turan ◽  
...  
Keyword(s):  
Takotsubo Cardiomyopathy ◽  
Fmr1 Gene
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