Publications by authors named "Isabelle Fajardy"

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A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.
Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Isabelle Fajardy

Mol Genet Genomic Med· May 2025

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Whole genome sequencing for -associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L Ingeborgh van den Born, Isabelle Fajardy

HGG Adv· April 2023

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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Suzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Isabelle Fajardy

Genet Med· March 2023

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Effect of diet in females (F1) from prenatally undernourished mothers on metabolism and liver function in the F2 progeny is sex-specific.
Ouma Cissé, Isabelle Fajardy, Fabien Delahaye, Anne Dickes, Valérie Montel

Eur J Nutr· September 2019

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Aquaporins and Fetal Membranes From Diabetic Parturient Women: Expression Abnormalities and Regulation by Insulin.
Damien Bouvier, Marion Rouzaire, Geoffroy Marceau, Cécile Prat, Bruno Pereira, Isabelle Fajardy

J Clin Endocrinol Metab· October 2015

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Mild gestational hyperglycemia in rat induces fetal overgrowth and modulates placental growth factors and nutrient transporters expression.
Ouma Cisse, Isabelle Fajardy, Anne Dickes-Coopman, Emmanuelle Moitrot, Valérie Montel

PLoS One· December 2013

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Maternal diets trigger sex-specific divergent trajectories of gene expression and epigenetic systems in mouse placenta.
Anne Gabory, Laure Ferry, Isabelle Fajardy, Luc Jouneau, Jean-David Gothié

PLoS One· April 2013

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Comparing HLA shared epitopes in French Caucasian patients with scleroderma.
Doua F Azzouz, Justyna M Rak, Isabelle Fajardy, Yannick Allanore, Kiet Phong Tiev

PLoS One· January 2013

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[Hereditary hemochromatosis HFE: regulatory and economic aspects of diagnosis and medical management].
Martine Ropert-Bouchet, Isabelle Fajardy, Henri Michel

Ann Biol Clin (Paris)· January 2013

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[Diagnostic difficulties of the HFE hemochromatosis gene (delay, excess, absence): the patient perspective].
Isabelle Fajardy, Henri Michel

Ann Biol Clin (Paris)· January 2013

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Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Amélie Bonnefond, Julien Philippe, Emmanuelle Durand, Aurélie Dechaume, Marlène Huyvaert, Isabelle Fajardy

PLoS One· November 2012

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Prenatal fasudil exposure alleviates fetal growth but programs hyperphagia and overweight in the adult male rat.
Laura Butruille, Sylvain Mayeur, Thibaut Duparc, Claude Knauf, Emmanuelle Moitrot, Isabelle Fajardy

Eur J Pharmacol· August 2012

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Consequences of gestational and pregestational diabetes on placental function and birth weight.
Anne Vambergue, Isabelle Fajardy

World J Diabetes· November 2011

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Maternal prenatal undernutrition programs adipose tissue gene expression in adult male rat offspring under high-fat diet.
Marie-Amélie Lukaszewski, Sylvain Mayeur, Isabelle Fajardy, Fabien Delahaye, Isabelle Dutriez-Casteloot

Am J Physiol Endocrinol Metab· September 2011

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Maternal perinatal undernutrition programs a "brown-like" phenotype of gonadal white fat in male rat at weaning.
Fabien Delahaye, Marie-Amélie Lukaszewski, Jean-Sébastien Wattez, Ouma Cisse, Isabelle Dutriez-Casteloot, Isabelle Fajardy

Am J Physiol Regul Integr Comp Physiol· July 2010

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Association between a CTGF gene polymorphism and systemic sclerosis in a French population.
Brigitte Granel, Laurent Argiro, Eric Hachulla, Isabelle Fajardy, Pierre-Jean Weiller

J Rheumatol· February 2010

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A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population.
Frédérique Gandjbakhch, Isabelle Fajardy, Benjamin Ferré, Sylvain Dubucquoi, René-Marc Flipo

J Rheumatol· May 2009

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Time course analysis of RNA stability in human placenta.
Isabelle Fajardy, Emmanuelle Moitrot, Anne Vambergue, Maryse Vandersippe-Millot, Philippe Deruelle

BMC Mol Biol· March 2009

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A part of the VP4 capsid protein exhibited by coxsackievirus B4 E2 is the target of antibodies contained in plasma from patients with type 1 diabetes.
Pierre Sauter, Wassim Chehadeh, Pierre-Emmanuel Lobert, Mouna Lazrek, Anne Goffard, Isabelle Fajardy

J Med Virol· May 2008

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Phenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department.
Marie-Christine Vantyghem, Isabelle Fajardy, Florence Dhondt, Caroline Girardot, Michèle D'Herbomez

Eur J Endocrinol· June 2006

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Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression.
Lionel Almeras, Bertrand Meresse, Jérôme Seze, D De Lefranc, Sylvain Dubucquoi, Isabelle Fajardy

Eur Cytokine Netw· January 2003

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