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Last Updated: 10/31/2025
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Found 238 publications
Clinical characteristics and genetic analysis of a case with 47,XYY Disorder of sex development due to variant of NR5A1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025
Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review.
Journal: medRxiv : the preprint server for health sciences
Published: June 30, 2025
Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- vs. Y-chromosome aneuploidy effects in males.
Journal: medRxiv : the preprint server for health sciences
Published: June 26, 2025
Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males.
Journal: Psychological medicine
Published: June 17, 2025
Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.
Journal: Archivos de la Sociedad Espanola de Oftalmologia
Published: April 01, 2025
A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.
Journal: Psychiatric genetics
Published: November 11, 2024
An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.
Journal: Genome research
Published: June 21, 2024
Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.
Journal: Frontiers in bioscience (Scholar edition)
Published: June 14, 2024
Postural tremor and sexual chromosome aneuploidies: case report and review of literature.
Journal: The International journal of neuroscience
Published: January 31, 2024
X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.
Journal: Journal of neurodevelopmental disorders
Published: October 23, 2023
Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.
Journal: BMC pregnancy and childbirth
Published: September 19, 2023
Last Updated: 10/31/2025