Literature DB >> 9647544

Fragile X premutation screening in women with premature ovarian failure.

G S Conway1, N N Payne, J Webb, A Murray, P A Jacobs.   

Abstract

We have screened 132 women with premature ovarian failure for fragile X (FRAXA) premutations. Three out of 23 (13%) pedigrees with the familial premature ovarian failure and 3/106 (3%) of women with the sporadic form of premature ovarian failure have FRAXA premutations compared with an expected prevalence of 1:590 (P=0.02). The mechanism of the association between FRAXA premutations and premature ovarian failure is unknown but as a genetic marker, FRAXA screening will be particularly valuable in predicting premature ovarian failure in some pedigrees and in the identification of families at risk of transmitting fragile X syndrome.

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Year:  1998        PMID： 9647544     DOI： 10.1093/humrep/13.5.1184

Source DB:  PubMed          Journal:  Hum Reprod        ISSN： 0268-1161            Impact factor:   6.918


  34 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

2.  IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister.

Authors:  Eric Scott Sills; Adam C Brady; Ahmed B Omar; David J Walsh; Umme Salma; Anthony Ph Walsh
Journal:  Reprod Biol Endocrinol       Date:  2010-03-25       Impact factor: 5.211

Review 3.  Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.

Authors:  Paul Hagerman
Journal:  Acta Neuropathol       Date:  2013-06-21       Impact factor: 17.088

4.  Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

Authors:  Claire E Bennett; Gerard S Conway; James N Macpherson; Patricia A Jacobs; Anna Murray
Journal:  Hum Reprod       Date:  2010-03-13       Impact factor: 6.918

5.  A novel assay for evaluating fragile X locus repeats.

Authors:  Karl Adler; J Kent Moore; Galina Filippov; Shaoping Wu; Jon Carmichael; Mack Schermer
Journal:  J Mol Diagn       Date:  2011-07-26       Impact factor: 5.568

Review 6.  Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause.

Authors:  Emanuele Pelosi; Eleanor Simonsick; Antonino Forabosco; Jose Elias Garcia-Ortiz; David Schlessinger
Journal:  Biol Reprod       Date:  2015-04-22       Impact factor: 4.285

7.  The role of genetic and autoimmune factors in premature ovarian failure.

Authors:  Nigyar N Shamilova; Larisa A Marchenko; Nataliya V Dolgushina; Dmitry V Zaletaev; Gennady T Sukhikh
Journal:  J Assist Reprod Genet       Date:  2013-03-16       Impact factor: 3.412

Review 8.  The genetic basis of female reproductive disorders: etiology and clinical testing.

Authors:  Lawrence C Layman
Journal:  Mol Cell Endocrinol       Date:  2013-03-14       Impact factor: 4.102

9.  Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers?

Authors:  M Friedman-Gohas; M Kirshenbaum; A Michaeli; N Domniz; S Elizur; H Raanani; R Orvieto; Y Cohen
Journal:  J Assist Reprod Genet       Date:  2020-02-24       Impact factor: 3.412

10.  Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Authors:  D C Crawford; K L Meadows; J L Newman; L F Taft; D L Pettay; L B Gold; S J Hersey; E F Hinkle; M L Stanfield; P Holmgreen; M Yeargin-Allsopp; C Boyle; S L Sherman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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