Isabelle Creveaux
Clermont-ferrand, France
Last Updated: 09/26/2026
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Found 12 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
A phase-II study based on dose adjustment according to UGT1A1 polymorphism: is irinotecan underdosed in first-line FOLFIRI regimen for mCRC?
Journal: Cancer chemotherapy and pharmacology
Published: July 06, 2023
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.
Journal: Clinical and experimental dermatology
Published: March 30, 2023
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Published: November 17, 2022
Paracetamol and Pain Modulation by TRPV1, UGT2B15, SULT1A1 Genotypes: A Randomized Clinical Trial in Healthy Volunteers.
Journal: Pain medicine (Malden, Mass.)
Published: March 26, 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?
Journal: Prenatal diagnosis
Published: March 11, 2019
Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism.
Journal: Disease markers
Published: September 30, 2018
Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment.
Journal: Iranian journal of public health
Published: December 21, 2017
Association of the OPRM1 and COMT genes' polymorphisms with the efficacy of morphine in Tunisian cancer patients: Impact of the high genetic heterogeneity in Tunisia?
Journal: Therapie
Published: January 01, 2016
Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy.
Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
Published: December 28, 2014
Showing 1-12 of 12
Last Updated: 09/26/2026