Maeva Elzaiat - Publications

Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

Journal: Molecular biology reports

Published: August 26, 2025

Digenic, oligogenic and genetic modifiers in disorders/differences of sex development (DSD).

Journal: Expert review of endocrinology & metabolism

Published: July 08, 2025

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 27, 2025

Evidence for NR2F2/COUP-TFII involvement in human testis development.

Journal: Scientific reports

Published: March 27, 2024

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

Journal: Science advances

Published: January 04, 2023

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

Journal: Nature communications

Published: July 10, 2022

Genetics of 46,XY gonadal dysgenesis.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: March 07, 2022

A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions.

Journal: Cell death and differentiation

Published: October 28, 2021

DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.

Journal: Human genetics

Published: April 21, 2020

High-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa Cells.

Journal: Molecular & cellular proteomics : MCP

Published: March 21, 2019

Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis.

Journal: PLoS genetics

Published: August 08, 2018

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Journal: Human molecular genetics

Published: April 17, 2017