A pilot study of premature ovarian senescence: I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone

2009 ◽  
Vol 91 (5) ◽  
pp. 1700-1706 ◽  
Author(s):  
Norbert Gleicher ◽  
Andrea Weghofer ◽  
David H. Barad
2009 ◽  
Vol 19 (3) ◽  
pp. 385-390 ◽  
Author(s):  
Norbert Gleicher ◽  
Andrea Weghofer ◽  
Kutluk Oktay ◽  
David Barad

2015 ◽  
Vol 30 (11) ◽  
pp. 2686-2692 ◽  
Author(s):  
Ann Schufreider ◽  
Dana B. McQueen ◽  
Sang Mee Lee ◽  
Rachel Allon ◽  
Meike L. Uhler ◽  
...  

1996 ◽  
Vol 43 (2) ◽  
pp. 383-388
Author(s):  
M Milewski ◽  
M Zygulska ◽  
J Bal ◽  
W H Deelen ◽  
E Obersztyn ◽  
...  

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.


2020 ◽  
Vol 19 (4) ◽  
pp. 425-431
Author(s):  
Michio Kitajima ◽  
Kanako Matsumoto ◽  
Naoko Murakami ◽  
Ayumi Harada ◽  
Yuriko Kitajima ◽  
...  

2009 ◽  
Vol 92 (3) ◽  
pp. S174-S175
Author(s):  
N. Gleicher ◽  
A. Weghofer ◽  
D.H. Barad

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