about
Sex determination: why so many ways of doing it?Systems Toxicology of Male Reproductive Development: Profiling 774 Chemicals for Molecular Targets and Adverse OutcomesNR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentIdentical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesRevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures.A newborn with ambiguous genitalia and a complex X;Y rearrangementA Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplicationRegulation of male sex determination: genital ridge formation and Sry activation in mice.Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.FGFR2 mutation in 46,XY sex reversal with craniosynostosisA Boolean network model of human gonadal sex determination.Sry-Independent Overexpression of Sox9 Supports Spermatogenesis and Fertility in the MouseStochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transferSpatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina.Novel associations in disorders of sex development: findings from the I-DSD Registry.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Management of disorders of sex development.Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case.MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.Retracted: Aetiology and clinical profile of children with 46, XY differences of sex development at an Indian referral centre.SF-1 deficiency causes lipid accumulation in Leydig cells via suppression of STAR and CYP11A1.Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual developmentDi(2-Ethylhexyl) Phthalate Exposure In Utero Damages Sertoli Cell Differentiation Via Disturbance of Sex Determination Pathway in Fetal and Postnatal Mice.[Intersex and differences of sex development: background, diagnostics, and concepts of care].Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.Preimplantation genetic diagnosis for intersex conditions: beyond parental decision making.Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias.Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.Disorders of sex development.A Human Gonadal Cell Model From Induced Pluripotent Stem CellsPhenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Disorders of sex development: new genes, new concepts.
@ast
Disorders of sex development: new genes, new concepts.
@en
Disorders of sex development: new genes, new concepts.
@nl
type
label
Disorders of sex development: new genes, new concepts.
@ast
Disorders of sex development: new genes, new concepts.
@en
Disorders of sex development: new genes, new concepts.
@nl
prefLabel
Disorders of sex development: new genes, new concepts.
@ast
Disorders of sex development: new genes, new concepts.
@en
Disorders of sex development: new genes, new concepts.
@nl
P2860
P356
P1476
Disorders of sex development: new genes, new concepts.
@en
P2093
Makoto Ono
Vincent R Harley
P2860
P2888
P356
10.1038/NRENDO.2012.235
P577
2012-12-18T00:00:00Z