Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
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Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesA genomic atlas of human adrenal and gonad development.Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.Submicroscopic copy-number variations associated with 46,XY disorders of sex development.Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone.Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.Integrated small copy number variations and epigenome maps of disorders of sex development.Molecular mechanism of male differentiation is conserved in the SRY-absent mammal, Tokudaia osimensis.SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.The Battle of the Sexes: Human Sex Development and Its Disorders.Recent findings on the genetics of disorders of sex development.Non-coding variation in disorders of sex development.Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Formation of new chromatin domains determines pathogenicity of genomic duplications.Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.Genome-wide identification of regulatory elements in Sertoli cells.
P2860
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P2860
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Copy number variation of two s ...... X disorder of sex development.
@en
type
label
Copy number variation of two s ...... X disorder of sex development.
@en
prefLabel
Copy number variation of two s ...... X disorder of sex development.
@en
P2093
P2860
P50
P1476
Copy number variation of two s ...... XX disorder of sex development
@en
P2093
Anika Salfelder
Anne-Christin Teichmann
Astrid Buchberger
Bernd Rösler
Colm Costigan
Elke Troppmann
Friederike Denzer
Gerd Scherer
Giovanna Camerino
Gwang-Jin Kim
P2860
P304
P356
10.1136/JMEDGENET-2014-102864
P407
P577
2015-01-20T00:00:00Z