Literature DB >> 14746957

Premature ovarian failure and fragile X premutation: a study on 45 women.

Cecilia Bussani1, Laura Papi, Roberta Sestini, Fulvia Baldinotti, Sandra Bucciantini, Vincenzina Bruni, Gianfranco Scarselli.   

Abstract

OBJECTIVE: The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early menopause. STUDY
DESIGN: 45 women with idiopathic premature ovarian failure (POF), five with a familial and 40 with a sporadic form, were screened for the presence of FRAXA premutation. A control group of 28 women >45 years, with one or more children and no signs of POF, was also studied.
RESULTS: We found three cases of fragile X premutations in women all belonging to the group with sporadic POF.
CONCLUSION: Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation.

Entities:  

Mesh:

Year:  2004        PMID: 14746957     DOI: 10.1016/j.ejogrb.2003.06.003

Source DB:  PubMed          Journal:  Eur J Obstet Gynecol Reprod Biol        ISSN: 0301-2115            Impact factor:   2.435


  10 in total

1.  Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus.

Authors:  J Kline; A Kinney; S Brown; B Levin; K Oppenheimer; D Warburton
Journal:  Hum Reprod       Date:  2012-04-06       Impact factor: 6.918

Review 2.  The impact of FMR1 gene mutations on human reproduction and development: a systematic review.

Authors:  Vincenzo Noto; Conor Harrity; David Walsh; Kevin Marron
Journal:  J Assist Reprod Genet       Date:  2016-07-18       Impact factor: 3.412

3.  Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.

Authors:  Deepika Delsa Dean; Sarita Agarwal; Deepa Kapoor; Kuldeep Singh; Chandra Vati
Journal:  Mol Diagn Ther       Date:  2018-02       Impact factor: 4.074

4.  Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.

Authors:  Gloria E Hoffman; Wei Wei Le; Ali Entezam; Noriyuki Otsuka; Zhi-Bin Tong; Lawrence Nelson; Jodi A Flaws; John H McDonald; Sanjeeda Jafar; Karen Usdin
Journal:  J Histochem Cytochem       Date:  2012-04-02       Impact factor: 2.479

5.  Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.

Authors:  Jennie K Kline; Ann M Kinney; Bruce Levin; Stephen A Brown; Andrew G Hadd; Dorothy Warburton
Journal:  Menopause       Date:  2014-07       Impact factor: 2.953

Review 6.  Premature ovarian insufficiency: pathogenesis and therapeutic potential of mesenchymal stem cell.

Authors:  Akimasa Takahashi; Abdelrahman Yousif; Linda Hong; IIana Chefetz
Journal:  J Mol Med (Berl)       Date:  2021-02-27       Impact factor: 4.599

Review 7.  Ovarian function in girls and women with GALT-deficiency galactosemia.

Authors:  Judith L Fridovich-Keil; Cynthia S Gubbels; Jessica B Spencer; Rebecca D Sanders; Jolande A Land; Estela Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

8.  Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.

Authors:  Emily G Allen; Wendy E Grus; Sarayu Narayan; Whitney Espinel; Stephanie L Sherman
Journal:  Front Genet       Date:  2014-08-07       Impact factor: 4.599

9.  Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.

Authors:  Lucía Daniela Espeche; Violeta Chiauzzi; Ianina Ferder; Mehrnoosh Arrar; Andrea Paula Solari; Carlos David Bruque; Marisol Delea; Susana Belli; Cecilia Soledad Fernández; Noemí Delia Buzzalino; Eduardo Hernán Charreau; Liliana Beatriz Dain
Journal:  Genes (Basel)       Date:  2017-08-16       Impact factor: 4.096

Review 10.  The FMR1 gene, infertility, and reproductive decision-making: a review.

Authors:  Lisa M Pastore; Joshua Johnson
Journal:  Front Genet       Date:  2014-07-07       Impact factor: 4.599

  10 in total

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