Timeline

Anu Bashamboo

Group Leader

30 Mar 2024

publication

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

20 Jan 2023

news

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

04 Jan 2023

publication

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

01 Jan 2022

publication

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

10 Mar 2021

publication

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

01 Jan 2021

publication

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

01 Jan 2021

publication

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

12 Sep 2019

project

Mammalian SD is a balance of mutually antagonistic pathways

12 Sep 2019

project

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

12 Sep 2019

project

Cellular reprogramming to understand human sex-determination.

07 Jun 2015

project

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

07 Jun 2015

project

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

25 May 2015

publication

An ancient protein-DNA interaction underlying metazoan sex determination

11 May 2015

team

Human Developmental Genetics

23 Mar 2015

publication

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

26 Oct 2014

publication

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

29 Jul 2014

publication

Consanguinity and disorders of sex development

18 Feb 2014

publication

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

02 Aug 2013

publication

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

10 Jan 2011

publication

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

01 Jan 2011

publication

Genetic disorders of sex differentiation

01 Oct 2010

publication

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

01 Oct 2009

publication

[NR5A1 and ovarian failure]

06 Aug 2009

publication

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

21 May 2009

publication

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

25 Feb 2009

publication

A little guide for advanced search:

Timeline

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

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

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

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

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

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

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

Mammalian SD is a balance of mutually antagonistic pathways

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

Cellular reprogramming to understand human sex-determination.

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

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

An ancient protein-DNA interaction underlying metazoan sex determination

Human Developmental Genetics

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

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

Consanguinity and disorders of sex development

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

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

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

Genetic disorders of sex differentiation

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

[NR5A1 and ovarian failure]

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

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

Mutations in NR5A1 associated with ovarian insufficiency