ReviewSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2010
New technologies for the identification of novel genetic markers of disorders of sex development (DSD).
Review in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- <italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Review
- Innervation of internal female genital organs in the pig during prenatal development.Journal of anatomy · 2019Article
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’European journal of endocrinology · 2018Review
- Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.Journal of human genetics · 2018Article
- GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.Frontiers in endocrinology · 2018Article
- Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Birth defects research. Part C, Embryo today : reviews · 2016Review
- Disorders of sex development: effect of molecular diagnostics.Nature reviews. Endocrinology · 2015Review
- Genome-wide identification of CBX2 targets: insights in the human sex development network.Molecular endocrinology (Baltimore, Md.) · 2015Article
- Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.Journal of assisted reproduction and genetics · 2015Article
- Molecular characteristics of malignant ovarian germ cell tumors and comparison with testicular counterparts: implications for pathogenesis.Endocrine reviews · 2013Review
- Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals.Scientifica · 2012Review
- Mammalian sex determination—insights from humans and mice.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Review
- Sequencing technologies and genome sequencing.Journal of applied genetics · 2011Review
- UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.Clinical endocrinology · 2011Article
- Loss-of-function mutation in GATA4 causes anomalies of human testicular development.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- The molecular and cellular basis of gonadal sex reversal in mice and humans.Wiley interdisciplinary reviews. Developmental biologyReview
Corrections and comments
- Erratum issuedAchermann, J [corrected to Achermann, J C]
Authors and funding
6 authors.
Funding
Abstract
Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.