Lista de obras -

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Lista de obras de

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.