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Aimé Ravel

Observed names: A Ravel, A. Ravel, Aime Ravel, RAVEL, Aimé, Ravel A, Ravel, Aimé
ORCID: 0000-0001-9614-9851
Observed ORCID: 0000-0001-9614-9851
OpenAlex ID: A5004330916
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
2009 · André Mégarbané, Aimé Ravel, et al. · Genetics in Medicine · 270
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Feeding problems and gastrointestinal diseases in Down syndrome
2019 · A. Ravel, C. Mircher, et al. · Archives de Pédiatrie · 93
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
2020 · Xiao-Fei Kong, Lisa Worley, et al. · Journal of Clinical Immunology · 88
Acute Regression in Young People with Down Syndrome
2017 · Clotilde Mircher, Cécile Cieuta-Walti, et al. · Brain Sciences · 77
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
2014 · Laïla El Khattabi, Fabien Guimiot, et al. · European Journal of Human Genetics · 71
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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
2010 · Henri Blehaut, Clotilde Mircher, et al. · PLoS ONE · 54
Pulmonary hemosiderosis in children with Down syndrome: a national experience
2018 · for the French RespiRare® group, Aurelia Alimi, et al. · Orphanet Journal of Rare Diseases · 46
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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)
2022 · Cécile Cieuta-Walti, Aida Cuenca-Royo, et al. · Genetics in Medicine · 39
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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
2013 · André Mégarbané, Florian Noguier, et al. · European Journal of Human Genetics · 39
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways
2012 · Clémentine Ripoll, Isabelle Rivals, et al. · PLoS ONE · 33
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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
2020 · André Mégarbané, David Piquemal, et al. · Scientific Reports · 32
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Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects
2018 · F Poizeau, E Sbidian, et al. · Acta Dermato Venereologica · 26
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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study
2024 · Brigitte Fauroux, Silvia Sacco, et al. · The Lancet Regional Health - Europe · 25
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation
2019 · Larissa Haertle, Tobias Müller, et al. · Clinical Epigenetics · 22
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Growth curves for French people with Down syndrome from birth to 20 years of age
2018 · Clotilde Mircher, Laura G. Briceño, et al. · American Journal of Medical Genetics Part A · 18
Anthropometric charts and congenital anomalies in newborns with Down syndrome
2017 · Clotilde Mircher, Jeanne Toulas, et al. · American Journal of Medical Genetics Part A · 15
Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome
2021 · M. Roche, C. Mircher, et al. · Journal of Intellectual Disability Research · 13
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
2019 · Clotilde Mircher, Silvia Sacco, et al. · Genetics in Medicine · 13
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[Chronic hematic cyst of the orbit (orbital subperiosteal hematoma)].
2000 · C Privat, J Bellamy, et al. · PubMed · 10
Catatonia in Down's syndrome: An under-recognized syndrome during regression
2023 · Barbara Jakubowicz, Axel Baptista, et al. · Schizophrenia Research · 8
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
2011 · Aimé Ravel, Eliane Chouery, et al. · American Journal of Medical Genetics Part A · 8
[Pituitary gland MRI and Cushing disease: report of 14 operated patients].
2000 · C Vest-Courtalon, A Ravel, et al. · PubMed · 8
[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
1984 · M O Rethoré, B Caille, et al. · PubMed · 7
Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis
2021 · Silvia Sacco, Charles Bouis, et al. · American Journal of Medical Genetics Part A · 6
Reflection analysis: a new optical method. Evidence of mitotic inter-chromosomal RNA
2008 · J. Lejeune, M.C. de Blois, et al. · Cytogenetics and Cell Genetics · 5
Works count: 54
Citation count: 1,041
H-index: 15
I10-index: 19
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