Publications by authors named "Frederic Parisot"

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A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds.
Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Frédéric Parisot

J Hum Immun· January 2026

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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.
Minh-Tuan Huynh, Anne-Sophie Lambert, Lucie Tosca, François Petit, Christophe Philippe, Frédéric Parisot

Eur J Med Genet· August 2018

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First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
Minh-Tuan Huynh, Lucie Tosca, François Petit, Jelena Martinovic, Alexis Proust, Frédéric Parisot

Eur J Med Genet· June 2018

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Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Frédéric Parisot

Neurol Genet· December 2017

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Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.
Anne Mayeur Le Bras, François Petit, Alexandra Benachi, Bettina Bedel, Salima Oucherif, Frédéric Parisot

Birth Defects Res A Clin Mol Teratol· April 2016

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Faten Ben Rhouma, Hatem Azzouz, François M Petit, Mariem Ben Khelifa, Amel Ben Chehida, Frédéric Parisot

Mol Biol Rep· July 2013

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A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.
François M Petit, Marylise Hébert, Olivier Picone, Sophie Brisset, Marie-Laure Maurin, Frédéric Parisot

Eur J Hum Genet· March 2009

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The Tunisian population history through the Crigler-Najjar type I syndrome.
François M Petit, Stéphane Bézieau, Vincent Gajdos, Frédéric Parisot, Catherine Scoul

Eur J Hum Genet· July 2008

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Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study.
Vincent Gajdos, François M Petit, Claire Perret, Alix Mollet-Boudjemline, Patrice Colin, Frédéric Parisot

Clin Chem· December 2006

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Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
François M Petit, Vincent Gajdos, Frédéric Parisot, Liliane Capel, Azzedine Aboura

Eur J Hum Genet· March 2005

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