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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

Scientific reports, 2020-06, Vol.10 (1), p.9447-9447, Article 9447

2020

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Catatonia in Down's syndrome: An under-recognized syndrome during regression

Schizophrenia research, 2023-11, Vol.261, p.107-109

2023

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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Journal of clinical immunology, 2020-08, Vol.40 (6), p.807-819

2020

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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

Genetics in medicine, 2009-09, Vol.11 (9), p.611-616

2009

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Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects

Acta dermato-venereologica, 2019-03, Vol.99 (3), p.351-352

2019

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Pulmonary hemosiderosis in children with Down syndrome: a national experience

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.60-60, Article 60

2018

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Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.818-827

2022

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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)

Genetics in medicine, 2022-10, Vol.24 (10), p.2004-2013

2022

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Acute Regression in Young People with Down Syndrome

Brain sciences, 2017-05, Vol.7 (6), p.57

2017

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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

PloS one, 2010-01, Vol.5 (1), p.e8394-e8394

2010

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Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways

PloS one, 2012-08, Vol.7 (8), p.e41616-e41616

2012

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Growth curves for French people with Down syndrome from birth to 20 years of age

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2685-2694

2018

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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

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1253-1259

2013

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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

Clinical epigenetics, 2019-12, Vol.11 (1), p.195-195, Article 195

2019

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Accompagner, soigner, traiter les personnes avec une déficience intellectuelle, un témoignage

Médecine palliative, 2018-04, Vol.17 (2), p.101-107

Ravel, Aimé

2018

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Génétique, diagnostic et caractéristiques de la trisomie 21

Soins. Pédiatrie, puériculture, 2018-05, Vol.39 (302), p.10-14

Ravel, Aimé

2018

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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.880-884

2011

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Growth curves for French people with Down syndrome from birth to 20years of age

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2685-2694

2018

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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

The Lancet regional health. Europe, 2024-10, Vol.45, p.101035, Article 101035

2024

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Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional studyResearch in context

The Lancet regional health. Europe, 2024-10, Vol.45, p.101035

2024

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Acute regression in young people with Down Syndrome

European journal of paediatric neurology, 2017-06, Vol.21, p.e23-e23

2017

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Effect of Leucovorin

PloS one, 2010-01, Vol.5 (1), p.e8394

2010

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Effect of Leucovorin and Influence of Thyroid Status

PloS one, 2010-01, Vol.5 (1), p.e8394

2010

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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

Catatonia in Down's syndrome: An under-recognized syndrome during regression

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects

Pulmonary hemosiderosis in children with Down syndrome: a national experience

Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis

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)

Acute Regression in Young People with Down Syndrome

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status

Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways

Growth curves for French people with Down syndrome from birth to 20 years of age

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

Accompagner, soigner, traiter les personnes avec une déficience intellectuelle, un témoignage

Génétique, diagnostic et caractéristiques de la trisomie 21

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Growth curves for French people with Down syndrome from birth to 20years of age

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional studyResearch in context

Acute regression in young people with Down Syndrome

Effect of Leucovorin

Effect of Leucovorin and Influence of Thyroid Status

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