Publications by authors named "Clotilde Mircher"

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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study.
Brigitte Fauroux, Silvia Sacco, Vincent Couloigner, Alessandro Amaddeo, Aimé Ravel, Clotilde Mircher

Lancet Reg Health Eur· October 2024

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Catatonia in Down's syndrome: An under-recognized syndrome during regression.
Barbara Jakubowicz, Axel Baptista, Aimé Ravel, Cécile Cieuta, Clotilde Mircher

Schizophr Res· November 2023

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Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c B cells.
Louise Malle, Roosheel S Patel, Marta Martin-Fernandez, O Jay Stewart, Quentin Philippot, Clotilde Mircher

Nature· March 2023

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Down syndrome regression disorder, a case series: Clinical characterization and therapeutic approaches.
Sidney Bonne, Anton Iftimovici, Clotilde Mircher, Martine Conte, Cécile Louveau

Front Neurosci· February 2023

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Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study).
Cécile Cieuta-Walti, Aida Cuenca-Royo, Klaus Langohr, Claire Rakic, Ma Ángeles López-Vílchez, Clotilde Mircher

Genet Med· October 2022

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Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Clotilde Mircher

Life Sci Alliance· August 2022

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Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.
Silvia Sacco, Charles Bouis, Jennifer Gallard, Aude Pichot, Elodie Blondiaux, Clotilde Mircher

Am J Med Genet A· March 2022

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Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study.
Maria Carmona-Iragui, Daniel Alcolea, Isabel Barroeta, Laura Videla, Laia Muñoz, Clotilde Mircher

Lancet Neurol· August 2021

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Deciphering the links between psychological stress, depression, and neurocognitive decline in patients with Down syndrome.
François Poumeaud, Clotilde Mircher, Peter J Smith, Pierre-Antoine Faye, Franck G Sturtz

Neurobiol Stress· May 2021

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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
Xiao-Fei Kong, Lisa Worley, Darawan Rinchai, Vincent Bondet, Puthen Veettil Jithesh, Clotilde Mircher

J Clin Immunol· August 2020

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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
André Mégarbané, David Piquemal, Anne-Sophie Rebillat, Samantha Stora, Fabien Pierrat, Clotilde Mircher

Sci Rep· June 2020

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Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Clotilde Mircher, Silvia Sacco, Charles Bouis, Jennifer Gallard, Aude Pichot

Genet Med· January 2020

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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.
Larissa Haertle, Tobias Müller, Roy Lardenoije, Anna Maierhofer, Marcus Dittrich, Clotilde Mircher

Clin Epigenetics· December 2019

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Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects.
Florence Poizeau, Emilie Sbidian, Clotilde Mircher, Anne-Sophie Rebillat, Olivier Chosidow

Acta Derm Venereol· March 2019

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Growth curves for French people with Down syndrome from birth to 20 years of age.
Clotilde Mircher, Laura G Briceño, Jeanne Toulas, Martine Conte, Marie-Laure Tanguy

Am J Med Genet A· December 2018

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Anthropometric charts and congenital anomalies in newborns with Down syndrome.
Clotilde Mircher, Jeanne Toulas, Cécile Cieuta-Walti, Isabelle Marey, Martine Conte

Am J Med Genet A· August 2017

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Acute Regression in Young People with Down Syndrome.
Clotilde Mircher, Cécile Cieuta-Walti, Isabelle Marey, Anne-Sophie Rebillat, Laura Cretu

Brain Sci· May 2017

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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
André Mégarbané, Florian Noguier, Samantha Stora, Laurent Manchon, Clotilde Mircher

Eur J Hum Genet· November 2013

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Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome.
Jean-Marie Berthelot, Leonor Nogueira, Clotilde Mircher, André Megarbane, Yves Maugars

Joint Bone Spine· October 2012

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Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Jack-Christophe Cossec, Jérémie Lavaur, Diego E Berman, Isabelle Rivals, Alexander Hoischen, Clotilde Mircher

Hum Mol Genet· July 2012

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Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.
Henri Blehaut, Clotilde Mircher, Aimé Ravel, Martine Conte, Veronique de Portzamparc

PLoS One· January 2010

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The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.
André Mégarbané, Aimé Ravel, Clotilde Mircher, Franck Sturtz, Yann Grattau

Genet Med· September 2009

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[Congenital diseases associated with chromosomal anomalies].
Clotilde Mircher

Servir· May 2007

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No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.
Abalo Chango, Nathalie Fillon-Emery, Clotilde Mircher, Henri Bléhaut, Daniel Lambert

Br J Nutr· August 2005

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Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms.
Nathalie Fillon-Emery, Abalo Chango, Clotilde Mircher, Françoise Barbé, Henri Bléhaut

Am J Clin Nutr· December 2004

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