An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference42 articles.
1. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability;Bertini;J. Hum. Genet.,2015
2. High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function;Bestetti;Hum. Reprod.,2019
3. Sex differences in early embryogenesis: inter-chromosomal regulation sets the stage for sex-biased gene networks: the dialogue between the sex chromosomes and autosomes imposes sexual identity soon after fertilization;Engel;Bioessays,2018
4. EIF1AX and NRAS mutations co-occur and cooperate in low-grade serous ovarian carcinomas;Etemadmoghadam;Cancer Res.,2017
5. Quantitative analysis of Y-Chromosome gene expression across 36 human tissues;Godfrey;Genome Res.,2020
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3. CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy;Genes;2024-07-10
4. Selected Genetic Factors Associated with Primary Ovarian Insufficiency;International Journal of Molecular Sciences;2023-02-23
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