Aline Receveur
Amiens, France
Last Updated: 09/26/2026
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Found 25 publications
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Journal: Frontiers in genetics
Published: February 01, 2024
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Journal: American journal of medical genetics. Part A
Published: July 22, 2023
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
Journal: European journal of medical genetics
Published: March 21, 2023
Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey.
Journal: Clinical genetics
Published: June 06, 2022
First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
Journal: Taiwanese journal of obstetrics & gynecology
Published: July 19, 2021
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Journal: American journal of obstetrics and gynecology
Published: February 19, 2021
Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.
Journal: American journal of medical genetics. Part A
Published: September 16, 2020
Impact of simulation-based prenatal invasive procedure training on professional practice, a preliminary study.
Journal: Journal of gynecology obstetrics and human reproduction
Published: July 01, 2020
A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations.
Journal: Basic and clinical andrology
Published: May 20, 2020
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Journal: Journal of medical genetics
Published: March 26, 2018
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Journal: European journal of medical genetics
Published: October 19, 2017
Last Updated: 09/26/2026