Ligne de temps

Anu Bashamboo
Chef(fe) de Groupe
30 mars 2024
publication

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

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20 janv. 2023
news

New publication – In vitro cellular reprogramming to model gonad development and its disorders

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04 janv. 2023
publication

In vitro cellular reprogramming to model gonad development and its disorders.

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01 janv. 2022
publication

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

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10 mars 2021
publication

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

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01 janv. 2021
publication

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

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01 janv. 2021
publication

Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.

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12 sept. 2019
project

Mammalian SD is a balance of mutually antagonistic pathways

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12 sept. 2019
project

Control of expression of the human testis-determining gene SRY.

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12 sept. 2019
project

Cellular reprogramming to understand human sex-determination.

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07 juin 2015
project

Identification of key components of the human sex-determination pathway. The DSD exome/genome project.

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07 juin 2015
project

The role of the ribosome biogenesis factor DHX37 in vertebrate sex-determination.

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25 mai 2015
publication

An ancient protein-DNA interaction underlying metazoan sex determination

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11 mai 2015
team

Génétique du Développement Humain

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23 mars 2015
publication

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

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26 oct. 2014
publication

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

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29 juil. 2014
publication

Consanguinity and disorders of sex development

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18 févr. 2014
publication

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

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02 août 2013
publication

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

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10 janv. 2011
publication

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

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01 janv. 2011
publication

Genetic disorders of sex differentiation

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01 oct. 2010
publication

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

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01 oct. 2009
publication

[NR5A1 and ovarian failure]

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06 août 2009
publication

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts

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21 mai 2009
publication

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

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25 févr. 2009
publication

Mutations in NR5A1 associated with ovarian insufficiency

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