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A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder

https://doi.org/10.1056/nejmc1010311
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1007/bf03195693openalex-snapshot
Genetic mechanisms underlying male sex determination in mammals
inferredcites →https://doi.org/10.1016/j.tig.2008.10.008openalex-snapshot
Sex determination and SRY: down to a wink and a nudge?
inferredcites →https://doi.org/10.1038/90046openalex-snapshot
Sox9 induces testis development in XX transgenic mice
inferredcites →https://doi.org/10.1093/hmg/ddh141openalex-snapshot
Long-range activation of Sox9 in Odd Sex (Ods) mice
inferredcites →https://doi.org/10.1136/jmg.2009.068361openalex-snapshot
Long-range regulation at the SOX9 locus in development and disease: Figure 1

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Morphine Re-Arranges Chromatin Spatial Architecture of Non-Human Primate Cortical Neurons
inferred← citeshttps://doi.org/10.1002/ajmg.a.35390openalex-snapshot
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication
inferred← citeshttps://doi.org/10.1002/ajmg.a.35847openalex-snapshot
Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect
inferred← citeshttps://doi.org/10.1002/ajmg.a.37101openalex-snapshot
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)
inferred← citeshttps://doi.org/10.1002/ajmg.a.62063openalex-snapshot
Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p. E50K ) in a patient with 46, XX ovotesticular disorder of sex development
inferred← citeshttps://doi.org/10.1002/ajmg.a.62373openalex-snapshot
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46, XX ovotesticular difference of sexual development
inferred← citeshttps://doi.org/10.1002/bdrc.21143openalex-snapshot
Why boys will be boys and girls will be girls: Human sex development and its defects
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Structural variations, the regulatory landscape of the genome and their alteration in human disease
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Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
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The introduction of arrays in prenatal diagnosis: A special challenge
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Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence
inferred← citeshttps://doi.org/10.1002/wdev.42openalex-snapshot
The molecular and cellular basis of gonadal sex reversal in mice and humans
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Ambiguous Genitalia
inferred← citeshttps://doi.org/10.1007/978-1-4939-0659-8_2openalex-snapshot
Genetics of Male Fertility
inferred← citeshttps://doi.org/10.1007/978-3-030-37972-8_18openalex-snapshot
Disorders of Sex Determination
inferred← citeshttps://doi.org/10.1007/978-3-030-84168-3_25openalex-snapshot
The Reproductive System
inferred← citeshttps://doi.org/10.1007/978-3-319-19207-9_24openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-3-319-41433-1_2openalex-snapshot
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Genetic Counselling
inferred← citeshttps://doi.org/10.1007/978-3-642-22964-0_7openalex-snapshot
46,XY DSD
inferred← citeshttps://doi.org/10.1007/978-981-13-7864-5_21openalex-snapshot
Genetic Counselling
inferred← citeshttps://doi.org/10.1007/978-981-13-7864-5_7openalex-snapshot
46,XY DSD
inferred← citeshttps://doi.org/10.1007/978-981-97-1639-5_32openalex-snapshot
46, XX Testicular DSD
inferred← citeshttps://doi.org/10.1007/s00439-014-1424-6openalex-snapshot
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences
inferred← citeshttps://doi.org/10.1007/s00439-023-02639-wopenalex-snapshot
Functional categorization of gene regulatory variants that cause Mendelian conditions
inferred← citeshttps://doi.org/10.1007/s10577-012-9274-3openalex-snapshot
Mammalian sex determination—insights from humans and mice
inferred← citeshttps://doi.org/10.1007/s10577-013-9386-4openalex-snapshot
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
inferred← citeshttps://doi.org/10.1016/b978-0-12-374430-2.00021-3openalex-snapshot
Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00165-8openalex-snapshot
Chondrodysplasias
inferred← citeshttps://doi.org/10.1016/b978-0-12-397175-3.00007-7openalex-snapshot
Sex Determination and Differentiation
inferred← citeshttps://doi.org/10.1016/b978-0-12-800892-8.00019-1openalex-snapshot
Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.64539-7openalex-snapshot
Translocations and Male Infertility
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.65175-9openalex-snapshot
Genetic Control of Fetal Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.95925-7openalex-snapshot
Genes and Gene Defects Affecting Gonadal Development and Sex Determination
inferred← citeshttps://doi.org/10.1016/b978-0-323-18907-1.00119-0openalex-snapshot
Diagnosis and Treatment of Disorders of Sexual Development
inferred← citeshttps://doi.org/10.1016/b978-0-323-29738-7.00023-xopenalex-snapshot
Pediatric Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-323-47912-7.00016-0openalex-snapshot
Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-323-47912-7.00017-2openalex-snapshot
Puberty
inferred← citeshttps://doi.org/10.1016/b978-0-323-56711-4.00089-4openalex-snapshot
10.1016/b978-0-323-56711-4.00089-4
inferred← citeshttps://doi.org/10.1016/b978-0-323-62520-3.00006-3openalex-snapshot
Ambiguous Genitalia
inferred← citeshttps://doi.org/10.1016/b978-0-323-62520-3.00016-6openalex-snapshot
Puberty in the Female and Its Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-62520-3.00018-xopenalex-snapshot
Puberty and Its Disorders in the Male
inferred← citeshttps://doi.org/10.1016/b978-0-323-82823-9.00085-4openalex-snapshot
Differences in Sex Development
inferred← citeshttps://doi.org/10.1016/b978-0-443-13825-6.00170-9openalex-snapshot
Genetic control of fetal sex development
inferred← citeshttps://doi.org/10.1016/b978-0-443-13825-6.00222-3openalex-snapshot
Genes and gene defects affecting gonadal development and sex determination
inferred← citeshttps://doi.org/10.1016/b978-0-443-21477-6.00497-1openalex-snapshot
Translocations and Male Infertility
inferred← citeshttps://doi.org/10.1016/b978-0-7020-4591-2.00008-5openalex-snapshot
Diagnosis of Hydrops and Multiple Malformation Syndromes
inferred← citeshttps://doi.org/10.1016/b978-1-4557-2758-2.00017-2openalex-snapshot
Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/b978-1-4557-2758-2.00018-4openalex-snapshot
Puberty
inferred← citeshttps://doi.org/10.1016/b978-1-4557-4858-7.00014-7openalex-snapshot
Ambiguous genitalia
inferred← citeshttps://doi.org/10.1016/b978-1-4557-4858-7.00024-xopenalex-snapshot
Puberty and its disorders in the female
inferred← citeshttps://doi.org/10.1016/b978-1-4557-4858-7.00026-3openalex-snapshot
Puberty and its disorders in the male
inferred← citeshttps://doi.org/10.1016/bs.ctdb.2019.01.004openalex-snapshot
The regulation of Sox9 expression in the gonad
inferred← citeshttps://doi.org/10.1016/bs.ctdb.2019.01.005openalex-snapshot
Translating genomics to the clinical diagnosis of disorders/differences of sex development
inferred← citeshttps://doi.org/10.1016/j.anireprosci.2024.107579openalex-snapshot
Pathological characteristics of SRY-negative 38,XX-DSD pigs: A family case report
inferred← citeshttps://doi.org/10.1016/j.beem.2022.101633openalex-snapshot
Genetics of 46,XY gonadal dysgenesis
inferred← citeshttps://doi.org/10.1016/j.biocel.2016.08.005openalex-snapshot
SOX9 regulates expression of the male fertility gene Ets variant factor 5 (ETV5) during mammalian sex development
inferred← citeshttps://doi.org/10.1016/j.ecl.2015.07.012openalex-snapshot
Fertility Issues in Disorders of Sex Development
inferred← citeshttps://doi.org/10.1016/j.ejmg.2013.10.001openalex-snapshot
A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9
inferred← citeshttps://doi.org/10.1016/j.endoen.2014.03.014openalex-snapshot
Sexual differentiation anomalies. XX male syndrome
inferred← citeshttps://doi.org/10.1016/j.endonu.2014.03.003openalex-snapshot
Anomalías de la diferenciación sexual. Síndrome del varón XX
inferred← citeshttps://doi.org/10.1016/j.gde.2013.02.013openalex-snapshot
CNVs of noncoding cis-regulatory elements in human disease
inferred← citeshttps://doi.org/10.1016/j.gde.2016.10.007openalex-snapshot
Decoding the role of regulatory element polymorphisms in complex disease
inferred← citeshttps://doi.org/10.1016/j.gene.2015.11.039openalex-snapshot
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report
inferred← citeshttps://doi.org/10.1016/j.jgg.2025.11.009openalex-snapshot
Advances in monogenic female infertility
inferred← citeshttps://doi.org/10.1016/j.jsbmb.2016.10.009openalex-snapshot
Altered SOX9 genital tubercle enhancer region in hypospadias
inferred← citeshttps://doi.org/10.1016/j.juro.2014.02.044openalex-snapshot
Elucidation of Distinctive Genomic DNA Structures in Patients with 46,XX Testicular Disorders of Sex Development Using Genome Wide Analyses
inferred← citeshttps://doi.org/10.1016/j.livsci.2017.07.002openalex-snapshot
Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY -negative) in pigs
inferred← citeshttps://doi.org/10.1016/j.mce.2018.01.009openalex-snapshot
Epigenetic regulation of male fate commitment from an initially bipotential system
inferred← citeshttps://doi.org/10.1016/j.mce.2018.04.003openalex-snapshot
New technologies to uncover the molecular basis of disorders of sex development
inferred← citeshttps://doi.org/10.1016/j.rbmo.2018.03.017openalex-snapshot
Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development
inferred← citeshttps://doi.org/10.1016/j.repbio.2013.12.007openalex-snapshot
Dog as a model in studies on human hereditary diseases and their gene therapy
inferred← citeshttps://doi.org/10.1016/j.scr.2021.102397openalex-snapshot
Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene
inferred← citeshttps://doi.org/10.1016/j.semcdb.2015.10.030openalex-snapshot
Human sex-determination and disorders of sex-development (DSD)
inferred← citeshttps://doi.org/10.1016/j.semcdb.2016.07.032openalex-snapshot
Sry and SoxE genes: How they participate in mammalian sex determination and gonadal development?
inferred← citeshttps://doi.org/10.1016/j.ymgme.2011.06.024openalex-snapshot
The evolution of the search for novel genes in mammalian sex determination: From mice to men
inferred← citeshttps://doi.org/10.1016/s0246-1064(16)44341-0openalex-snapshot
10.1016/s0246-1064(16)44341-0
inferred← citeshttps://doi.org/10.1016/s1283-081x(17)86892-2openalex-snapshot
Anomalías de la diferenciación sexual
inferred← citeshttps://doi.org/10.1016/s2213-8587(18)30339-5openalex-snapshot
A clinical algorithm to diagnose differences of sex development
inferred← citeshttps://doi.org/10.1038/ejhg.2012.228openalex-snapshot
Clinical Utility Gene Card for: campomelic dysplasia
inferred← citeshttps://doi.org/10.1038/ejhg.2014.237openalex-snapshot
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
inferred← citeshttps://doi.org/10.1038/hgv.2016.12openalex-snapshot
Integrated small copy number variations and epigenome maps of disorders of sex development
inferred← citeshttps://doi.org/10.1038/nrendo.2012.235openalex-snapshot
Disorders of sex development: new genes, new concepts
inferred← citeshttps://doi.org/10.1038/nrendo.2014.130openalex-snapshot
DSDs: genetics, underlying pathologies and psychosexual differentiation
inferred← citeshttps://doi.org/10.1038/nrendo.2015.69openalex-snapshot
Disorders of sex development: effect of molecular diagnostics
inferred← citeshttps://doi.org/10.1038/s41467-018-07784-9openalex-snapshot
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
inferred← citeshttps://doi.org/10.1038/s41467-024-52463-7openalex-snapshot
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
inferred← citeshttps://doi.org/10.1038/s41576-018-0007-0openalex-snapshot
Structural variation in the 3D genome
inferred← citeshttps://doi.org/10.1038/s41585-023-00754-xopenalex-snapshot
Genetic control of typical and atypical sex development
inferred← citeshttps://doi.org/10.1038/srep14696openalex-snapshot
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
inferred← citeshttps://doi.org/10.1042/cs20150579openalex-snapshot
Molecular mechanisms associated with 46,XX disorders of sex development
inferred← citeshttps://doi.org/10.1093/bmb/ldt008openalex-snapshot
Understanding the genetic aetiology in patients with XY DSD
inferred← citeshttps://doi.org/10.1093/hmg/ddaa259openalex-snapshot
Heterozygous deletion ofSox9in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans
inferred← citeshttps://doi.org/10.1093/hmg/ddv259openalex-snapshot
Non-coding genetic variants in human disease: Figure 1.
inferred← citeshttps://doi.org/10.1093/hmg/ddw186openalex-snapshot
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
inferred← citeshttps://doi.org/10.1093/hmg/ddw205openalex-snapshot
Looking beyond the genes: the role of non-coding variants in human disease
inferred← citeshttps://doi.org/10.1093/humrep/dez022openalex-snapshot
A systematic review and standardized clinical validity assessment of male infertility genes
inferred← citeshttps://doi.org/10.1093/nar/gkad225openalex-snapshot
POSTRE: a tool to predict the pathological effects of human structural variants
inferred← citeshttps://doi.org/10.1097/01.mxe.0000407742.94579.b1openalex-snapshot
Disorders of sex development
inferred← citeshttps://doi.org/10.1097/01.mxe.0000449827.31826.0eopenalex-snapshot
A report of the first patient from Hungary with SRY+, 46,XX male syndrome
inferred← citeshttps://doi.org/10.1097/mop.0000000000000275openalex-snapshot
Overview of genetics of disorders of sexual development
inferred← citeshttps://doi.org/10.1097/mop.0000000000000644openalex-snapshot
Genetic testing of XY newborns with a suspected disorder of sex development
inferred← citeshttps://doi.org/10.1101/2024.05.27.24307993openalex-snapshot
Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD
inferred← citeshttps://doi.org/10.1111/age.12538openalex-snapshot
Deep sequencing of a candidate region harboring the SOX 9 gene for the canine XX disorder of sex development
inferred← citeshttps://doi.org/10.1111/and.12831openalex-snapshot
Very late presentation of a disorder of sex development
inferred← citeshttps://doi.org/10.1111/cge.12911openalex-snapshot
Non‐coding variation in disorders of sex development
inferred← citeshttps://doi.org/10.1111/cge.13146openalex-snapshot
Genomic disorders 20 years on—mechanisms for clinical manifestations
inferred← citeshttps://doi.org/10.1111/j.1439-0531.2011.01976.xopenalex-snapshot
Sequence Variations in Equine Candidate Genes For XX and XY Inherited Disorders of Sexual Development
inferred← citeshttps://doi.org/10.1111/rda.12094openalex-snapshot
64, XX , SRY ‐negative, Testicular DSD Syndrome in a L usitano Horse
inferred← citeshttps://doi.org/10.1134/s1022795422100027openalex-snapshot
Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1136/jmedgenet-2011-100036openalex-snapshot
XX males SRY negative: a confirmed cause of infertility: Figure 1
inferred← citeshttps://doi.org/10.1136/jmedgenet-2011-100255openalex-snapshot
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
inferred← citeshttps://doi.org/10.1136/jmedgenet-2014-102864openalex-snapshot
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
inferred← citeshttps://doi.org/10.1136/jmedgenet-2016-104128openalex-snapshot
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region
inferred← citeshttps://doi.org/10.1146/annurev-genom-082410-101404openalex-snapshot
Copy-Number Variations, Noncoding Sequences, and Human Phenotypes
inferred← citeshttps://doi.org/10.1146/annurev-genom-091212-153417openalex-snapshot
Translational Genetics for Diagnosis of Human Disorders of Sex Development
inferred← citeshttps://doi.org/10.1159/000191103openalex-snapshot
Grape Seed Proanthocyanidins Ameliorate Diabetic Nephropathy via Modulation of Levels of AGE, RAGE and CTGF
inferred← citeshttps://doi.org/10.1159/000326631openalex-snapshot
Disorders of Sex Development: Neonatal Diagnosis and Management
inferred← citeshttps://doi.org/10.1159/000331274openalex-snapshot
XX SRY-Negative True Hermaphrodism in Two Dogs: Clinical, Morphological, Genetic and Cytogenetic Studies
inferred← citeshttps://doi.org/10.1159/000332209openalex-snapshot
Molecular Mechanisms of Sexual Development
inferred← citeshttps://doi.org/10.1159/000342188openalex-snapshot
Gene Mutations Associated with Anomalies of Human Gonad Formation
inferred← citeshttps://doi.org/10.1159/000342221openalex-snapshot
Genetic Control of Testis Development
inferred← citeshttps://doi.org/10.1159/000357956openalex-snapshot
The Genetics of Disorders of Sex Development in Humans
inferred← citeshttps://doi.org/10.1159/000358402openalex-snapshot
Characterising Novel Pathways in Testis Determination Using Mouse Genetics
inferred← citeshttps://doi.org/10.1159/000363531openalex-snapshot
A Lack of Association between Polymorphisms of Three Positional Candidate Genes (CLASP2, UBP1, and FBXL2) and Canine Disorder of Sexual Development (78,XX; SRY-Negative)
inferred← citeshttps://doi.org/10.1159/000445088openalex-snapshot
Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects
inferred← citeshttps://doi.org/10.1159/000445464openalex-snapshot
A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene
inferred← citeshttps://doi.org/10.1159/000452637openalex-snapshot
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development
inferred← citeshttps://doi.org/10.1159/000466712openalex-snapshot
Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development
inferred← citeshttps://doi.org/10.1159/000479175openalex-snapshot
Testicular XX (SRY-Negative) Disorder of Sex Development in Cat
inferred← citeshttps://doi.org/10.1159/000496777openalex-snapshot
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1
inferred← citeshttps://doi.org/10.1159/000503299openalex-snapshot
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family
inferred← citeshttps://doi.org/10.1159/000519238openalex-snapshot
Targeting the Non-Coding Genome for the Diagnosis of Disorders of Sex Development
inferred← citeshttps://doi.org/10.1159/000519244openalex-snapshot
Cis-Regulatory Control of Mammalian Sex Determination
inferred← citeshttps://doi.org/10.1159/000519891openalex-snapshot
Long-Range Regulation of Key Sex Determination Genes
inferred← citeshttps://doi.org/10.1159/000521381openalex-snapshot
Monogenic Forms of DSD: An Update
inferred← citeshttps://doi.org/10.1159/000524453openalex-snapshot
SOX Genes and Their Role in Disorders of Sex Development
inferred← citeshttps://doi.org/10.1159/000548934openalex-snapshot
Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development
inferred← citeshttps://doi.org/10.1159/000553153openalex-snapshot
Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for the FOXL2 Gene
inferred← citeshttps://doi.org/10.11606/d.41.2011.tde-20012012-153650openalex-snapshot
Caracterização de rearranjos cromossômicos aparentemente equilibrados associados a quadros clínicos
inferred← citeshttps://doi.org/10.11606/t.5.2023.tde-07022024-154915openalex-snapshot
Análise por sequenciamento paralelo de larga escala de uma coorte de pacientes com distúrbios/diferenças do desenvolvimento do sexo 46,XX testicular e ovotesticular SRYnegativo
inferred← citeshttps://doi.org/10.1186/1471-2350-14-50openalex-snapshot
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
inferred← citeshttps://doi.org/10.1186/s13039-022-00580-7openalex-snapshot
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
inferred← citeshttps://doi.org/10.1186/s13059-016-1105-yopenalex-snapshot
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
inferred← citeshttps://doi.org/10.1186/s13287-024-04124-1openalex-snapshot
Promoting epithelial regeneration in chemically induced acute lung injury through Sox9-positive alveolar type 2 epithelial cells
inferred← citeshttps://doi.org/10.1210/clinem/dgaf020openalex-snapshot
Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and Diagnosis
inferred← citeshttps://doi.org/10.1210/er.2018-00140openalex-snapshot
Testis Development
inferred← citeshttps://doi.org/10.1210/jc.2013-3690openalex-snapshot
Disorders of Sex Development (DSDs): An Update
inferred← citeshttps://doi.org/10.1371/journal.pgen.1006520openalex-snapshot
Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone
inferred← citeshttps://doi.org/10.1371/journal.pone.0021219openalex-snapshot
Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
inferred← citeshttps://doi.org/10.1371/journal.pone.0073734openalex-snapshot
SOX9 Duplication Linked to Intersex in Deer
inferred← citeshttps://doi.org/10.1371/journal.pone.0079882openalex-snapshot
A Genome-Wide Association Study Points out the Causal Implication of SOX9 in the Sex-Reversal Phenotype in XX Pigs
inferred← citeshttps://doi.org/10.1371/journal.pone.0101244openalex-snapshot
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs
inferred← citeshttps://doi.org/10.1371/journal.pone.0186331openalex-snapshot
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)
inferred← citeshttps://doi.org/10.14710/jbtr.v6i3.9088openalex-snapshot
SRY-negative in 46, XX Male Testicular DSD: a case report
inferred← citeshttps://doi.org/10.1515/jpem.2011.370openalex-snapshot
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
inferred← citeshttps://doi.org/10.1515/medgen-2023-2036openalex-snapshot
Classic genetic and hormonal switches during fetal sex development and beyond
inferred← citeshttps://doi.org/10.1530/ec-14-0085openalex-snapshot
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
inferred← citeshttps://doi.org/10.1530/edm-17-0045openalex-snapshot
Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication
inferred← citeshttps://doi.org/10.1534/genetics.113.160259openalex-snapshot
Regulation of Sex Determination in Mice by a Non-coding Genomic Region
inferred← citeshttps://doi.org/10.1586/14737159.2015.1053467openalex-snapshot
Exome sequencing and whole genome sequencing for the detection of copy number variation
inferred← citeshttps://doi.org/10.18359/rmed.4753openalex-snapshot
Análisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativo
inferred← citeshttps://doi.org/10.2147/agg.s53226openalex-snapshot
Disorders of sex development: advances in genetic diagnosis and challenges in management
inferred← citeshttps://doi.org/10.23736/s2724-5276.21.06512-5openalex-snapshot
Differences of sex development in the newborn: from clinical scenario to molecular diagnosis
inferred← citeshttps://doi.org/10.3109/14767058.2014.907264openalex-snapshot
Can modern biology interpret the mystery of the birth of Christ?
inferred← citeshttps://doi.org/10.33719/yud.557085openalex-snapshot
Gerçek Hermafrodit Olgusu
inferred← citeshttps://doi.org/10.3389/fendo.2020.00211openalex-snapshot
Male Hypogonadism and Disorders of Sex Development
inferred← citeshttps://doi.org/10.3389/fendo.2024.1385901openalex-snapshot
Testicular differentiation in 46,XX DSD: an overview of genetic causes
inferred← citeshttps://doi.org/10.3389/fendo.2026.1829751openalex-snapshot
Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report
inferred← citeshttps://doi.org/10.3389/fimmu.2023.1149986openalex-snapshot
Comprehensive analysis, immune, and cordycepin regulation for SOX9 expression in pan-cancers and the matched healthy tissues
inferred← citeshttps://doi.org/10.3389/fped.2021.682846openalex-snapshot
The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
inferred← citeshttps://doi.org/10.3389/fped.2022.1089194openalex-snapshot
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
inferred← citeshttps://doi.org/10.3390/biom13040691openalex-snapshot
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development
inferred← citeshttps://doi.org/10.3390/genes12040486openalex-snapshot
Diverse Regulation but Conserved Function: SOX9 in Vertebrate Sex Determination
inferred← citeshttps://doi.org/10.3390/ijms20236089openalex-snapshot
Molecular Characterization of XX Maleness
inferred← citeshttps://doi.org/10.3390/ijms21186614openalex-snapshot
Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
inferred← citeshttps://doi.org/10.3390/ijms25010391openalex-snapshot
Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility
inferred← citeshttps://doi.org/10.3409/fb63_1.57openalex-snapshot
Polymorphism of the CTNNB1 and FOXL2 Genes is not Associated with Canine XX Testicular/Ovotesticular Disorder of Sex Development
inferred← citeshttps://doi.org/10.3892/mmr.2015.4202openalex-snapshot
A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review
inferred← citeshttps://doi.org/10.4161/epi.27474openalex-snapshot
RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts
inferred← citeshttps://doi.org/10.4225/03/58b76c29c9268openalex-snapshot
Characterisation of testis- and ovary- specific long non-coding RNAs
inferred← citeshttps://doi.org/10.4274/jcrpe.1098openalex-snapshot
46,XX Male Disorder of Sexual Development: A Case Report
inferred← citeshttps://doi.org/10.53846/goediss-8880openalex-snapshot
Vorhersage, Analyse und Bedeutung charakteristischer Transkriptionsfaktor-Bindestellen und deren potentielle Masterkontrollfunktion in der transkriptionellen Genregulation
inferred← citeshttps://doi.org/10.5734/jgm.2016.13.2.78openalex-snapshot
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
inferred← citeshttps://doi.org/10.6065/apem.2014.19.2.108openalex-snapshot
A Korean boy with 46,XX testicular disorder of sex development caused bySOX9duplication
inferred← citeshttps://doi.org/10.70675/2121a6cdzd40ez4fc1zab46z7577738cc5daopenalex-snapshot
Régulation épigénétique de l’expression de FOXL2 et voies activées en aval de ce gène dans la gonade
inferred← citeshttps://doi.org/10.70675/75d2da80zc1ccz4c00zb5fbz93c990ea9a16openalex-snapshot
Analyse des variations du nombre de copies d'ADN dans une cohorte d'hommes infertiles et génération de modèles génétiques d’étude de la méiose à partir de cellules iPS de patients infertiles
inferred← citeshttps://doi.org/10.70675/b192335dz9cbfz43b6zb81czf1e406b32009openalex-snapshot
Deciphering the molecular mechanisms of gonadal development
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