Publications by authors named "Mathilde Pacault"

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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Charlyne Brakta, Anne-Claude Tabet, Mathilde Puel, Mathilde Pacault, Marie-Claude Stolzenberg

J Clin Immunol· November 2024

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Uncommon mutational landscape in a non-small cell lung cancer patient treated with crizotinib: Case report.
Margaux Geier, Jessica Nguyen, Estelle Dhamelincourt, Hélène Babey, Renaud Descourt, Mathilde Pacault

Heliyon· June 2024

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Characterization of genetic variants in the gene identified in a European collection of patients with erythrocytosis.
Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec

Haematologica· November 2023

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[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook].
Camille Verebi, Victor Gravrand, Mathilde Pacault, Marie-Pierre Audrezet, Nathalie Couque

Gynecol Obstet Fertil Senol· October 2023

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier

PLoS One· April 2023

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Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
Mathilde Pacault, Camille Verebi, Maureen Lopez, Nicolas Vaucouleur, Lucie Orhant

BJOG· October 2022

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A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.
Mathilde Pacault, Mathilde Nizon, Olivier Pichon, Marie Vincent, Cédric Le Caignec

Eur J Med Genet· December 2019

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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau

Eur J Hum Genet· December 2018

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NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Mathilde Pacault

Ann Neurol· November 2018

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Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, Mathilde Pacault

Blood· August 2018

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Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant

Clin Chem Lab Med· April 2018

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Mathilde Pacault

Am J Hum Genet· April 2017

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Mathilde Pacault

Am J Hum Genet· February 2017

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Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression.
Alison Eaton, Edit Nagy, Mathilde Pacault, Jérémy Fauconnier, Magnus Bäck

J Mol Med (Berl)· October 2012

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