Laurence Loeuillet

Paris, France

Last Updated: 09/26/2026

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Found 24 publications

Histologic and molecular features shared between antibody-mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis.

Histologic and molecular features shared between antibody-mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis.

Journal: The Journal of pathology

Published: August 19, 2024

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Journal: EMBO molecular medicine

Published: April 05, 2024

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Journal: European journal of human genetics : EJHG

Published: September 03, 2023

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

Journal: Prenatal diagnosis

Published: April 30, 2023

IFITM1 inhibits trophoblast invasion and is induced in placentas associated with IFN-mediated pregnancy diseases.

IFITM1 inhibits trophoblast invasion and is induced in placentas associated with IFN-mediated pregnancy diseases.

Journal: iScience

Published: February 07, 2023

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Journal: Birth defects research

Published: November 22, 2022

Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies.

Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies.

Journal: PloS one

Published: March 30, 2022

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Journal: Human mutation

Published: October 18, 2021

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Journal: Prenatal diagnosis

Published: September 03, 2021

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes.

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes.

Journal: PloS one

Published: December 18, 2020

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal: Journal of medical genetics

Published: November 16, 2020

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Journal: Human mutation

Published: November 13, 2019

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Last Updated: 09/26/2026