Identification of de novo copy number variants associated with human disorders of sexual development. - Wikidata - awgldk - TriplyDB

Identification of de novo copy number variants associated with human disorders of sexual development.

Identification of de novo copy number variants associated with human disorders of sexual development.

http://www.wikidata.org/entity/Q33737564

about

Copy number variation in the horse genome Adult Gli2+/-;Gli3Δ699/+ Male and Female Mice Display a Spectrum of Genital Malformation DMRT1 prevents female reprogramming in the postnatal mammalian testis Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies.Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.Sexual cell-fate reprogramming in the ovary by DMRT1.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 An ancient protein-DNA interaction underlying metazoan sex determination.A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Tissue-specific roles of Fgfr2 in development of the external genitalia.Copy number variations in the genome of the Qatari population Submicroscopic copy-number variations associated with 46,XY disorders of sex development.CNV analysis in 169 patients with bladder exstrophy-epispadias complex.Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.Regulatory element copy number differences shape primate expression profiles.Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies.Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.Integrated small copy number variations and epigenome maps of disorders of sex development.The molecular and cellular basis of gonadal sex reversal in mice and humans.Genetic causes of spermatogenic failure.Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination.Diacylglycerol kinase K variants impact hypospadias in a California study population.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Gonadal development and tumor formation at the crossroads of male and female sex determination.Expanding roles for the evolutionarily conserved Dmrt sex transcriptional regulators during embryogenesis.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Disorders of sex development: effect of molecular diagnostics.Oestrogen action and male fertility: experimental and clinical findings.

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P2860

Identification of de novo copy number variants associated with human disorders of sexual development.

http://www.wikidata.org/entity/Q33737564

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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name

Identification of de novo copy ...... sorders of sexual development.

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Identification of de novo copy ...... sorders of sexual development.

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type

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Identification of de novo copy ...... sorders of sexual development.

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Identification of de novo copy ...... sorders of sexual development.

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Identification of de novo copy ...... sorders of sexual development.

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Identification of de novo copy ...... sorders of sexual development.

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JOURNAL.PONE.0015392

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Identification of de novo copy ...... sorders of sexual development.

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Dolores J Lamb

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Lindsay Meyers

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Mounia Tannour-Louet

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Sau Wai Cheung

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Sean T Corbett

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Shuo Han

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Sung-Hae L Kang

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Svetlana Yatsenko

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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

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

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

Smad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formation

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Autosomal XX sex reversal caused by duplication of SOX9.

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scholarly article

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10.1371/JOURNAL.PONE.0015392

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10

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Jean-Francois Louet

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2010-10-26T00:00:00Z

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