A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

No abstract is available for this paper.

• Publication year

  2011

• Venue

  European Journal of Human Genetics

• Publication date

  2011-11-09

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/ejhg.2011.204PMID 22071891PMCID PMC3283189
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Gonadal Development and Tumor Formation at the Crossroads of Male and Female Sex Determination

  2011cited by this paper
• Identification of SOX3 as an XX male sex reversal gene in mice and humans.

  2011cited by this paper
• Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

  2011cited by this paper
• Identification of SOX 3 as an XX male sex reversal gene in mice and humans

  2010cited by this paper
• Copy number variation and mosaicism

  2009cited by this paper
• Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis.

  2009cited by this paper
• WWOX: Its genomics, partners, and functions

  2009cited by this paper
• Inhibition of the Wnt/β-catenin pathway by the WWOX tumor suppressor protein

  2009cited by this paper
• FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD)

  2008cited by this paper
• Stem cell factor as a novel diagnostic marker for early malignant germ cells

  2008cited by this paper
• Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal.

  2008cited by this paper
• Targeted deletion of Wwox reveals a tumor suppressor function

  2007cited by this paper
• Sex determination and gonadal development in mammals.

  2007cited by this paper
• WWOX hypomorphic mice display a higher incidence of B‐cell lymphomas and develop testicular atrophy

  2007cited by this paper
• Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

  2006cited by this paper
• Consensus Statement on Management of Intersex Disorders

  2006cited by this paper
• Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.

  2006cited by this paper
• WWOX protein expression in normal human tissues

  2006cited by this paper
• CONSENSUS STATEMENT ON MANAGEMENT OF INTERSEX DISORDERS. INTERNATIONAL CONSENSUS CONFERENCE ON INTERSEX ORGANIZED BY THE LAWSON WILKINS PEDIATRIC ENDOCRINE SOCIETY AND THE EUROPEAN SOCIETY FOR PAEDIATRIC ENDOCRINOLOGY

  2006cited by this paper
• Physical and Functional Interactions between the Wwox Tumor Suppressor Protein and the AP-2γ Transcription Factor

  2004cited by this paper
• Detecting copy number changes in genomic DNA: MAPH and MLPA.

  2004cited by this paper
• Functional association between Wwox tumor suppressor protein and p73, a p53 homolog.

  2004cited by this paper
• POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors.

  2003cited by this paper
• WWOX: A candidate tumor suppressor gene involved in multiple tumor types

  2001cited by this paper
• WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer.

  2000cited by this paper

• Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs

  2024cites this paper
• Variations du développement génital

  2024cites this paper
• Testicular differentiation in 46,XX DSD: an overview of genetic causes

  2024cites this paper
• Variaciones del desarrollo genital

  2024cites this paper
• Genetic control of typical and atypical sex development

  2023cites this paper
• Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

  2022cites this paper
• Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

  2022cites this paper
• Guía de consenso sobre la gonadectomía profiláctica en el desarrollo sexual diferente

  2022cites this paper
• Built Environment and Crime in a South Korea Context

  2022cites this paper
• Consensus guide on prophylactic gonadectomy in different sex development.

  2022cites this paper
• WWOX and metabolic regulation in normal and pathological conditions

  2022cites this paper
• Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

  2022cites this paper
• Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs.

  2022cites this paper
• Monogenic Forms of DSD: An Update

  2021cites this paper
• Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

  2021cites this paper
• LIM Homeodomain (LIM-HD) Genes and Their Co-Regulators in Developing Reproductive System and Disorders of Sex Development

  2021cites this paper
• Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations

  2021cites this paper
• Cellular Expression and Subcellular Localization of Wwox Protein During Testicular Development and Spermatogenesis in Rats

  2021cites this paper
• Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview

  2021influential citation
• Ambiguous Genitalia

  2021cites this paper
• Male Hypogonadism and Disorders of Sex Development

  2020cites this paper
• Translating genomics to the clinical diagnosis of disorders/differences of sex development.

  2019cites this paper
• Disorders of Sex Development

  2019cites this paper
• Genetic Control of Fetal Sex Development

  2019cites this paper
• Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy

  2019cites this paper
• New technologies to uncover the molecular basis of disorders of sex development.

  2018cites this paper
• Variations du développement génital chez les individus 46,XY ou 45,X/46,XY

  2018cites this paper
• Genetic testing of XY newborns with a suspected disorder of sex development

  2018cites this paper
• The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

  2018cites this paper
• Desarrollo sexual diferente

  2017cites this paper
• Development of Laboratory Investigations in Disorders of Sex Development

  2017cites this paper
• The Role of Copy Number Variants in Disorders of Sex Development

  2017cites this paper
• The biology of germ cell tumors in disorders of sex development

  2017cites this paper
• Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

  2017cites this paper
• Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

  2017cites this paper
• 4.02 – Disorders of Sex Development in Males: Molecular Genetics, Epigenetics, Gender Identity, and Cognition

  2017cites this paper
• Analyse des variations du nombre de copies d'ADN dans une cohorte d'hommes infertiles et génération de modèles génétiques d’étude de la méiose à partir de cellules iPS de patients infertiles

  2017cites this paper
• Développements sexuels différents

  2017cites this paper
• Parent-of-origin-specific signatures of de novo mutations

  2016cites this paper
• Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

  2016cites this paper
• Why boys will be boys and girls will be girls: Human sex development and its defects.

  2016cites this paper
• Malignant Germ Cell Tumors and Disorders of Sex Development

  2015cites this paper
• New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development

  2015cites this paper
• Overview of genetics of disorders of sexual development

  2015cites this paper
• WWOX, the chromosomal fragile site FRA16D spanning gene: Its role in metabolism and contribution to cancer

  2015cites this paper
• WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period

  2015cites this paper
• Disorders of sex development: advances in genetic diagnosis and challenges in management

  2015cites this paper
• The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

  2014cites this paper
• Genetic of gonadal determination.

  2014cites this paper
• Chapter 17 – Disorders of Sex Development

  2014cites this paper
• Disorders of sex development (DSDs): an update.

  2014cites this paper
• A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

  2014cites this paper
• DSDs: genetics, underlying pathologies and psychosexual differentiation

  2014cites this paper
• Translational genetics for diagnosis of human disorders of sex development.

  2013cites this paper
• Common chromosomal fragile site FRA16D tumor suppressor WWOX gene expression and metabolic reprograming in cells

  2013cites this paper
• Disorders of sex development: new genes, new concepts

  2013cites this paper
• Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

  2012cites this paper
• Disorders of Sex Development

  2010cites this paper