Kolexia
Rooryck-Thambo Caroline Génétique médicale
Rooryck-Thambo Caroline
Génétique médicale
Hôpital Pellegrin
Bordeaux, France
154 Activités
398 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Cardiomyopathies Prédisposition génétique à une maladie Syndrome de Goldenhar Cardiomyopathie hypertrophique Malformations multiples Microcéphalie Albinisme

Collaborateurs

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Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Goizet Cyril
Goizet Cyril
Hôpital Pellegrin, Bordeaux, France
Reant Patricia
Reant Patricia
Hôpital Haut-lévêque, Pessac, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France

Industries

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Sanofi
8 collaboration(s)
Dernière en 2023
Amicus Therapeutics
2 collaboration(s)
Dernière en 2023
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Dernières activités

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Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies assessment through an international cohort study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circulation. Genomic and precision medicine   07 décembre 2023
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
DPNI-RCIU: Non-invasive Prenatal Testing of Placental Chromosomal Abnormalities in Fetus With Intrauterine Growth Restriction
Essai Clinique (CHU Bordeaux)   07 novembre 2023
Morphological and genetic causes of fetal cardiomyopathies.
Clinical genetics   20 mai 2023
AnDDI-prenatome - the French national project of prenatal trio exome sequencing: 43% of diagnostic yield in 28 days with 80% pregnancy care changes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral-spectrum
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frontiers in genetics   23 mars 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenatal diagnosis   23 mars 2023
Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis.
Gynecologie, obstetrique, fertilite & senologie   20 mars 2023