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Article

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].

Annales d'endocrinologie - 1 Jan 1994

Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc J E, Kucheria K, Chaabouni S

Abstract excerpt

During mammalian embryogenesis, the presence of the SRY gene determines the bipotential gonad to develop as a testis. 46,XY sex reversal has been described in man. It is associated with an essentially female phenotype and a streak gonad. In a collaborative study, we analysed 36 patients with a 46,XY sex reversal. The testis determining region of the Y chromosome was analysed by Southern blotting and by DGGE...

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PMID: 8085778

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SRY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].PMID 8085778Read ↗

[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene].Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.Semantic proximity Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

[Pure 46XY gonadal dysgenesis].Semantic proximity Read ↗

[46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene].Semantic proximity Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.Semantic proximity Read ↗

Mutational analysis of SRY in XY females.Semantic proximity Read ↗

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.Semantic proximity Read ↗

[Genetic heterogeneity and phenotypic variability in 46,XY sex reversal].Semantic proximity Read ↗

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