Exome sequencing for the diagnosis of 46,XY disorders of sex development. - Wikidata - wikimedia - TriplyDB

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

http://www.wikidata.org/entity/Q35055057

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Insights from exome sequencing for endocrine disorders A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.Transition to Adult Care in Persons With Disorders of Sexual Development: The Role of the Gynecologist Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.FGFR2 mutation in 46,XY sex reversal with craniosynostosis The Genetic and Environmental Factors Underlying Hypospadias.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Disorders of sex development: effect of molecular diagnostics.Emerging issues in disorders/differences of sex development (DSD).A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.The biology of germ cell tumors in disorders of sex development.Recent findings on the genetics of disorders of sex development.Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.The current state of diagnostic genetics for conditions affecting sex development.MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.Genetic Analyses Reveal Functions for MAP2K3 and MAP2K6 in Mouse Testis Determination.Human sex development: targeted technologies to improve diagnosis.Small copy-number variations involving genes of the FGF pathway in differences in sex development.Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia.Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.Functional characterization of five NR5A1 gene mutations found in patients 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.Genome-wide identification of regulatory elements in Sertoli cells.Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.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.Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family.

P2860

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P2860

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

http://www.wikidata.org/entity/Q35055057

description

2014 nî lūn-bûn

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2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

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The Journal of Clinical Endocrinology and Metabolism

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Exome sequencing for the diagnosis of 46,XY disorders of sex development

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P2093

Anna Pawlikowska-Haddal

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Ascia Eskin

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Catherine Keegan

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Emmanuèle Délot

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Eric Vilain

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Hane Lee

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Hayk Barseghyan

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Leigh Ramos-Platt

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Louanne Hudgins

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P2860

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

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

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3

A map of human genome variation from population-scale sequencing

PLINK: a tool set for whole-genome association and population-based linkage analyses

Androgen insensitivity syndrome

A method and server for predicting damaging missense mutations

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

Mutation update on the CHD7 gene involved in CHARGE syndrome

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency

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10.1210/JC.2014-2605

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2

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Valerie Arboleda

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2014-11-10T00:00:00Z

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268154576

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