CSB-PGBD3 Mutations Cause Premature Ovarian Failure
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منابع مشابه
CSB-PGBD3 Mutations Cause Premature Ovarian Failure
Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 spo...
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background: premature ovarian failure (pof) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. mutations in bone morphogenetic protein 15 (bmp15) and growth differentiation factor 9 (gdf9) have been shown to be associated with pof. methods: genomic dna was isolated from 52 idiopathic premat...
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Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. I...
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BACKGROUND Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. Mutations in bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) have been shown to be associated with POF. METHODS Genomic DNA was isolated from 52 idiopathic premat...
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Premature ovarian failure (POF), also termed as primary ovarian insufficiency (POI), is a highly heterogenous condition affecting 0.5-3.0% of women in childbearing age. These young women comprise quite a formidable group with unique physical and psychological needs that require special attention. Premature ovarian senescence (POS) in all of its forms evolves insidiously as a basically asymptoma...
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ژورنال
عنوان ژورنال: PLOS Genetics
سال: 2015
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1005419