# Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genetic-and-clinical-aspects-of-sex-determination-and-chromosomal-abnormalities/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers explores the genetic, physiological, and environmental influences on sex determination and differentiation in various organisms. It covers topics such as X chromosome inactivation, Y chromosome degeneration, gonadal development, sexually dimorphic gene expression, Turner syndrome, SRY gene function, aromatase expression, Wnt signaling pathway, and temperature-dependent sex determination. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11077 |
| Works | 96 |

## Topic papers all

Showing 15 of 96.

- [Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor](https://scholariq.org/papers/ligand-independent-repression-by-the-thyroid-hormone-receptor-mediated-by-a/)
- [An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita](https://scholariq.org/papers/an-unusual-member-of-the-nuclear-hormone-receptor-superfamily-responsible-for-x/)
- [Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis](https://scholariq.org/papers/discovery-of-318-new-risk-loci-for-type-2-diabetes-and-related-vascular-outcomes/)
- [Mutation of <i>FOXL2</i> in Granulosa-Cell Tumors of the Ovary](https://scholariq.org/papers/mutation-of-i-foxl2-i-in-granulosa-cell-tumors-of-the-ovary/)
- [Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function](https://scholariq.org/papers/evidence-from-turner-s-syndrome-of-an-imprinted-x-linked-locus-affecting/)
- [The impact of sex on gene expression across human tissues](https://scholariq.org/papers/the-impact-of-sex-on-gene-expression-across-human-tissues/)
- [<i>Dmrt1</i>, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation](https://scholariq.org/papers/i-dmrt1-i-a-gene-related-to-worm-and-fly-sexual-regulators-is-required-for/)
- [Oocyte apoptosis during the transition from ovary-like tissue to testes during sex differentiation of juvenile zebrafish](https://scholariq.org/papers/oocyte-apoptosis-during-the-transition-from-ovary-like-tissue-to-testes-during/)
- [Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior](https://scholariq.org/papers/large-scale-gwas-reveals-insights-into-the-genetic-architecture-of-same-sex/)
- [Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease](https://scholariq.org/papers/population-specific-and-trans-ancestry-genome-wide-analyses-identify-distinct/)
- [Enhancer RNAs participate in androgen receptor-driven looping that selectively enhances gene activation](https://scholariq.org/papers/enhancer-rnas-participate-in-androgen-receptor-driven-looping-that-selectively/)
- [Molecular Classification and Prognostication of Adrenocortical Tumors by Transcriptome Profiling](https://scholariq.org/papers/molecular-classification-and-prognostication-of-adrenocortical-tumors-by/)
- [Hormonal regulation of spermatogenesis and spermiogenesis](https://scholariq.org/papers/hormonal-regulation-of-spermatogenesis-and-spermiogenesis/)
- [Drosophila Genome-wide Obesity Screen Reveals Hedgehog as a Determinant of Brown versus White Adipose Cell Fate](https://scholariq.org/papers/drosophila-genome-wide-obesity-screen-reveals-hedgehog-as-a-determinant-of-brown/)
- [SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)](https://scholariq.org/papers/shox-mutations-in-dyschondrosteosis-leri-weill-syndrome/)

## Topic primary papers

Showing 15 of 33.

- [Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function](https://scholariq.org/papers/evidence-from-turner-s-syndrome-of-an-imprinted-x-linked-locus-affecting/)
- [The impact of sex on gene expression across human tissues](https://scholariq.org/papers/the-impact-of-sex-on-gene-expression-across-human-tissues/)
- [<i>Dmrt1</i>, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation](https://scholariq.org/papers/i-dmrt1-i-a-gene-related-to-worm-and-fly-sexual-regulators-is-required-for/)
- [SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)](https://scholariq.org/papers/shox-mutations-in-dyschondrosteosis-leri-weill-syndrome/)
- [Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism](https://scholariq.org/papers/klinefelter-syndrome-ks-genetics-clinical-phenotype-and-hypogonadism/)
- [Turner syndrome: a cytogenetic and molecular study](https://scholariq.org/papers/turner-syndrome-a-cytogenetic-and-molecular-study-2/)
- [Turner syndrome: a cytogenetic and molecular study](https://scholariq.org/papers/turner-syndrome-a-cytogenetic-and-molecular-study/)
- [Clinical practice guidelines for the care of girls and women with Turner syndrome](https://scholariq.org/papers/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner/)
- [The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation](https://scholariq.org/papers/the-pgd2-pathway-independently-of-fgf9-amplifies-sox9-activity-in-sertoli-cells/)
- [Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome](https://scholariq.org/papers/female-chromosome-x-mosaicism-is-age-related-and-preferentially-affects-the/)
- [Neuropsychological profiles of adults with Klinefelter syndrome](https://scholariq.org/papers/neuropsychological-profiles-of-adults-with-klinefelter-syndrome/)
- [Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†](https://scholariq.org/papers/outcomes-of-pregnancies-diagnosed-with-klinefelter-syndrome-the-possible/)
- [Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling](https://scholariq.org/papers/prenatal-diagnosis-of-female-monozygotic-twins-discordant-for-turner-syndrome/)
- [Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome](https://scholariq.org/papers/chromosomal-mosaicism-mitigates-stigmata-and-cardiovascular-risk-factors-in/)
- [Cardiovascular abnormalities in Klinefelter Syndrome](https://scholariq.org/papers/cardiovascular-abnormalities-in-klinefelter-syndrome/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.
