List of works - Joelle Bignon-Topalovic

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

scientific article published on 21 December 2017

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific journal article

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific article published on 27 December 2016

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

scientific article published on 27 November 2014

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

scientific article

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

scientific article published on 23 March 2015

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

scientific article

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

scientific article

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

scientific article published on 16 February 2018

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

scientific article published on 18 February 2014

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

scientific article published on 11 April 2017

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

scientific article published on 24 January 2018

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

scientific article published in 2022

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

scientific article

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

scientific article published on 03 December 2020

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article published on 8 January 2012

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

scientific article published on 07 July 2020

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

scientific article published on 03 June 2020

The TALE homeodomain of PBX1 is involved in human primary testis-determination

scientific article published on 21 May 2019

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

scientific article published on 7 May 2018

List of works by Joelle Bignon-Topalovic

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

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

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

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

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

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

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

The TALE homeodomain of PBX1 is involved in human primary testis-determination

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.