Jean-michel Dupont

Paris, France

Last Updated: 09/26/2026

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Found 22 publications

What are circulating nucleic acids?

What are circulating nucleic acids?

Journal: Annales d'endocrinologie
Published: April 09, 2026

Chromosomal abnormalities diagnosed at the chromosomal microarray in pregnancies with isolated high risk of trisomy 21.

Chromosomal abnormalities diagnosed at the chromosomal microarray in pregnancies with isolated high risk of trisomy 21.

Journal: Journal of gynecology obstetrics and human reproduction
Published: October 31, 2025

ISCN and Chromoanagenesis.

ISCN and Chromoanagenesis.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: August 30, 2025

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Journal: Clinical genetics
Published: May 28, 2025

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Journal: Clinical genetics
Published: April 12, 2024

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A
Published: December 15, 2021

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

Journal: European journal of medical genetics
Published: November 15, 2021

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Journal: Molecular genetics & genomic medicine
Published: November 15, 2019

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Journal: Prenatal diagnosis
Published: March 11, 2019

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Journal: Journal of assisted reproduction and genetics
Published: November 15, 2018

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal: Journal of medical genetics
Published: October 02, 2018

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

Journal: Journal of assisted reproduction and genetics
Published: August 15, 2018
Showing 1-12 of 22

Last Updated: 09/26/2026