Maryse Bonniere

Paris, France

Last Updated: 09/26/2026

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Found 21 publications

Morphological and genetic causes of fetal cardiomyopathies.

Morphological and genetic causes of fetal cardiomyopathies.

Journal: Clinical genetics

Published: February 14, 2023

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 04, 2020

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Journal: Clinical genetics

Published: May 05, 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

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Journal: American journal of medical genetics. Part A

Published: May 19, 2019

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Journal: Fetal and pediatric pathology

Published: January 01, 2019

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Journal: American journal of medical genetics. Part A

Published: October 26, 2018

Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.

Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: July 14, 2018

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.

Journal: Brain pathology (Zurich, Switzerland)

Published: March 14, 2018

Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly.

Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly.

Journal: Nature neuroscience

Published: August 11, 2017

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Journal: Birth defects research

Published: July 21, 2017

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Journal: American journal of medical genetics. Part A

Published: April 25, 2017

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Last Updated: 09/26/2026