Publications by authors named "Aime Ravel"

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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

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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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, Aimé Ravel

Genet Med· October 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, Aimé Ravel

Am J Med Genet A· March 2022

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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, Aimé Ravel

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, Aimé Ravel

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, Aimé Ravel

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, Aimé Ravel

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, Aimé Ravel

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, Aimé Ravel

Am J Med Genet A· December 2018

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[Genetics, diagnosis and characteristics of trisomy 21].
Aimé Ravel

Soins Pediatr Pueric· November 2018

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Pulmonary hemosiderosis in children with Down syndrome: a national experience.
Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Aimé Ravel

Orphanet J Rare Dis· April 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, Aime Ravel

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, Aimé Ravel

Brain Sci· May 2017

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Aimé Ravel

Eur J Hum Genet· August 2015

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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, Aimé Ravel

Eur J Hum Genet· November 2013

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Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
Clémentine Ripoll, Isabelle Rivals, Emilie Ait Yahya-Graison, Luce Dauphinot, Evelyne Paly, Aimé Ravel

PLoS One· April 2013

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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Aimé Ravel, Eliane Chouery, Samantha Stora, Nadine Jalkh, Laurent Villard

Am J Med Genet A· April 2011

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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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