The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology,Reproductive Medicine
Reference19 articles.
1. The FMR1 premutation and reproduction;Wittenberger;Fertil Steril,2007
2. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data;Allingham-Hawkins;Am J Med Genet,1999
3. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox;Fu;Cell,1991
4. Association of FMR1 repeat size with ovarian dysfunction;Sullivan;Hum Reprod,2005
5. Characterization and expression of a cDNA encoding the human androgen receptor;Tilley;Proc Natl Acad Sci U S A,1989
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3. Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification;European Journal of Medical Genetics;2020-12
4. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair;Human Genetics;2019-10-31
5. A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings;Clinical Epigenetics;2016-12
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