Kolexia
Kleinfinger Pascale Biologie médicale
Kleinfinger Pascale
Biologie médicale
Lbm Selafa Cerba Site Frepillon
Saint-Ouen-l'Aumône, France
34 Activités
67 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Syndrome de Down Trisomie Syndrome de Patau Syndrome d'Edwards Aneuploïdie Malformations multiples Déficience intellectuelle Aberrations des chromosomes Maladies chromosomiques

Collaborateurs

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Costa Jean-Marc
Costa Jean-Marc
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Philizot-Lohmann Laurence
Philizot-Lohmann Laurence
Lbm Selafa Cerba Site Frepillon, Saint-Ouen-l'Aumône, France
Benachi Alexandra
Benachi Alexandra
Hôpital Antoine-Béclère, Clamart, France
Letourneau Alexandra
Letourneau Alexandra
Hôpital Antoine-Béclère, Clamart, France

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Dernières activités

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Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Prenatal diagnosis   06 mars 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.
American journal of medical genetics. Part A   16 novembre 2023
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Genes   03 novembre 2022
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Frontiers in genetics   26 septembre 2022
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.
Frontiers in genetics   29 août 2022
First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
Taiwanese journal of obstetrics & gynecology   04 avril 2022
Pregnancy loss and Exome sequencing analysis (WES)
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Accuracy of first-trimester cell-free DNA screening for trisomy 21 in twin pregnancy.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   14 décembre 2021
de 3000 vidéos - Collège Français d'Échographie Fœtale
Collège d'échographie Foetale   01 septembre 2021
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
American journal of obstetrics and gynecology   29 mai 2021