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The morphokinetic signature of human blastocysts with mosaicism and the clinical outcomes following transfer of embryos with low-level mosaicism
BackgroundGenetic mosaicism is commonly observed in human blastocysts. Embryos’ morphokinetic feature observed from time-lapse monitoring (TLM) is...
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From contemplation to classification of chromosomal mosaicism in human preimplantation embryos
Chromosomal mosaicism is a hallmark of early human embryo development. The last decade yielded an enormous amount of information about diversity and...
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Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study
BackgroundTo evaluate the clinical significance of noninvasive prenatal testing (NIPT) for detecting fetal sex chromosome aneuploidies (SCAs) in...
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Sex and gender in neurodevelopmental conditions
Health-related conditions often differ qualitatively or quantitatively between individuals of different birth-assigned sexes and gender identities,...
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Genetic control of typical and atypical sex development
Sex development relies on the sex-specific action of gene networks to differentiate the bipotential gonads of the growing fetus into testis or...
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Mechanisms and consequences of sex differences in immune responses
Biological sex differences refer to differences between males and females caused by the sex chromosome complement (that is, XY or XX), reproductive...
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Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series
Backgroundwe aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex...
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Sex-based analysis of treatment responses in animal models of sepsis: a preclinical systematic review protocol
BackgroundThe importance of investigating sex- and gender-dependent differences has been recently emphasized by major funding agencies. Notably, the...
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Sex—the most underappreciated variable in research: insights from helminth-infected hosts
The sex of a host affects the intensity, prevalence, and severity of helminth infection. In many cases, one sex has been found to be more susceptible...
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Sex and gender differences in community-acquired pneumonia
Awareness of the influence of sex ands gender on the natural history of several diseases is increasing. Community-acquired pneumonia (CAP) is the...
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Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development
Purpose46,XY disorders of sex development (DSD) is the most complicated and common type of DSD. To date, more than 30 genes have been identified...
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Cytogenetic abnormalities in a sample of females with premature ovarian failure
BackgroundPremature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and...
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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China
BackgroundNoninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies...
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The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes
PurposeCharacterize outcomes among adolescents and young adults (AYAs) with sex chromosome disorders (SCDs) after oocyte cryopreservation (OC)...
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A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism
Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human...
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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
BackgroundWith the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen...
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The radiologist’s role in assessing differences of sex development
When infants are identified with a difference of sex development (DSD), a thoughtful approach to imaging is essential to appropriate clinical...
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Evaluation of pre-implantation genetic testing for aneuploidy outcomes in patients without infertility undergoing in vitro fertilization compared to infertile controls
PurposeTo evaluate pre-implantation genetic testing for aneuploidy (PGT-A) outcomes in patients without infertility compared to infertile patients.
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Are sex disparities in COVID-19 a predictable outcome of failing men’s health provision?
The COVID-19 pandemic, caused by the SARS-CoV-2 coronavirus, has taken a catastrophic toll on society, health-care systems and the economy. Notably,...
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A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome
X-linked Alport syndrome (XLAS) is a progressive hereditary kidney disease caused by mutations in the COL4A5 gene encoding the type IV collagen α5...
