Andree Delahaye

Bondy, France

Last Updated: 09/26/2026

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Found 14 publications

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Journal: Molecular psychiatry

Published: January 13, 2024

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

Journal: American journal of human genetics

Published: April 06, 2022

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Journal: European journal of medical genetics

Published: July 22, 2019

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Journal: European journal of human genetics : EJHG

Published: July 26, 2016

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Journal: Molecular autism

Published: November 10, 2014

One-year outcome following biological or mechanical valve replacement for infective endocarditis.

One-year outcome following biological or mechanical valve replacement for infective endocarditis.

Journal: International journal of cardiology

Published: August 28, 2014

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Journal: European journal of human genetics : EJHG

Published: May 29, 2014

Mutations in the C-terminus of CDKL5: proceed with caution.

Mutations in the C-terminus of CDKL5: proceed with caution.

Journal: European journal of human genetics : EJHG

Published: March 18, 2013

Chromosomal microarray analysis in ocular developmental anomalies.

Chromosomal microarray analysis in ocular developmental anomalies.

Journal: Expert review of molecular diagnostics

Published: June 19, 2012

HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4.

HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4.

Journal: Haematologica

Published: February 03, 2012

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Journal: European journal of human genetics : EJHG

Published: January 12, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026