Translational genetics for diagnosis of human disorders of sex development - sprookjes - yvandenbroek - TriplyDB

Translational genetics for diagnosis of human disorders of sex development

Translational genetics for diagnosis of human disorders of sex development

http://www.wikidata.org/entity/Q35660382

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Genome-wide identification of CBX2 targets: insights in the human sex development network.DSDs: genetics, underlying pathologies and psychosexual differentiation.Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.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 FGFR2 mutation in 46,XY sex reversal with craniosynostosis Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Malformation syndromes associated with disorders of sex development.Management of disorders of sex development.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Disorders of sex development: effect of molecular diagnostics.Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.The Battle of the Sexes: Human Sex Development and Its Disorders.Transition of care for adolescents with disorders of sex development.

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P2860

Translational genetics for diagnosis of human disorders of sex development

http://www.wikidata.org/entity/Q35660382

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Translational genetics for diagnosis of human disorders of sex development

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Translational genetics for diagnosis of human disorders of sex development

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Translational genetics for diagnosis of human disorders of sex development

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Translational genetics for diagnosis of human disorders of sex development

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Translational genetics for diagnosis of human disorders of sex development

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Translational genetics for diagnosis of human disorders of sex development

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ANNUREV-GENOM-091212-153417

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Annual Review of Genomics and Human Genetics

P1476

Translational genetics for diagnosis of human disorders of sex development

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P2093

Eric Vilain

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Ruth M Baxter

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P2860

Initial sequencing and analysis of the human genome

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

The Sequence of the Human Genome

An integrated encyclopedia of DNA elements in the human genome

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

Cellular signaling by fibroblast growth factor receptors

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

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

Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin

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371-392

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scholarly article

P356

10.1146/ANNUREV-GENOM-091212-153417

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14

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2013-07-15T00:00:00Z

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23875799

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4447314

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