Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. - Wikidata - wikimedia - TriplyDB

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

http://www.wikidata.org/entity/Q33847708

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Copy number variation in the horse genome Mammalian sex determination—insights from humans and mice.Genetic control of testis development Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.Regulation of sex determination in mice by a non-coding genomic region.Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Fine time course expression analysis identifies cascades of activation and repression and maps a putative regulator of mammalian sex determination.A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs.Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.The evolution of the search for novel genes in mammalian sex determination: from mice to men DSDs: genetics, underlying pathologies and psychosexual differentiation.Translational genetics for diagnosis of human disorders of sex development A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.Submicroscopic copy-number variations associated with 46,XY disorders of sex development.Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.Integrated small copy number variations and epigenome maps of disorders of sex development.Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Malformation syndromes associated with disorders of sex development.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Disorders of sex development: effect of molecular diagnostics.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.Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.The biology of germ cell tumors in disorders of sex development.Non-coding variation in disorders of sex development.Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.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.[Intersex and differences of sex development: background, diagnostics, and concepts of care].Y are you not pregnant: identification of Y chromosome segments in female cattle with decreased reproductive efficiency.Genome-wide identification of regulatory elements in Sertoli cells.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.

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P2860

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

http://www.wikidata.org/entity/Q33847708

description

2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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type

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Copy number variation in patie ...... e to 46,XY gonadal dysgenesis.

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Amanda Notini

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Denise Miles

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Eric Vilain

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Garry Warne

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Henrik Bengtsson

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Hinda Daggag

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Jocelyn van den Bergen

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John Hutson

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Katrina Bell

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Kelly Roeszler

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P2860

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

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scholarly article

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10.1371/JOURNAL.PONE.0017793

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Jacqueline K. Hewitt

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Vincent R Harley

Patrick S Western

Thomas Ohnesorg

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2011-03-07T00:00:00Z

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50400176

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