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1
Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

von Fauroux, Brigitte ; Sacco, Silvia ; Couloigner, Vincent ; et al.

In The Lancet Regional Health - Europe October 2024 45
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2
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

von Matuozzo, Daniela ; Talouarn, Estelle ; Marchal, Astrid ; et al.

Genome Medicine. 16(1)
- Zum Volltext in PubMed Central
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3
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

von Abel, Laurent ; Aiuti, Alessandro ; Al-Muhsen, Saleh ; et al.

In Human Genetics and Genomics Advances 18 July 2024 5(3)
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4
Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndrome

von Maillard, Pierre-Yves ; Tokajian, Sima ; Vilaire-Meunier, Marie ; et al.

OBM Genetics ; volume 09, issue 03, page 1-22 ; ISSN 2577-5790
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5
Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

von Malle, Louise ; Patel, Roosheel S. ; Martin-Fernandez, Marta ; et al.

Nature: International weekly journal of science. 615(7951):305-314
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6
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

von Matuozzo, Daniela ; Talouarn, Estelle ; Marchal, Astrid ; et al.

Genome Medicine. 15(1)
- Zum Volltext in PubMed Central
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7
Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

von Carmona-Iragui, Maria ; Alcolea, Daniel ; Barroeta, Isabel ; et al.

In The Lancet Neurology August 2021 20(8):605-614
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8
Deciphering the links between psychological stress, depression, and neurocognitive decline in patients with Down syndrome

von Poumeaud, François ; Mircher, Clotilde ; Smith, Peter J. ; et al.

In Neurobiology of Stress May 2021 14
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9
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

von Mircher, Clotilde ; Sacco, Silvia ; Bouis, Charles ; et al.

In Genetics in Medicine January 2020 22(1):44-52
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10
Down syndrome regression disorder, a case series: Clinical characterization and therapeutic approaches

von Sidney Bonne ; Anton Iftimovici ; Clotilde Mircher ; et al.

Frontiers in Neuroscience, Vol 17 (2023)

Schlagworte: down syndrome; trisomy 21; catatonia; inflammation; corticosteroids; personalized medicine; Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571
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11
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

von André Mégarbané ; David Piquemal ; Anne-Sophie Rebillat ; et al.

Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)

Schlagworte: Medicine; Science
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12
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

von Kong, Xiao-Fei ; Worley, Lisa ; Rinchai, Darawan ; et al.

Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(6):807-819
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13
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

von Manry, Jérémy ; Bastard, Paul ; Gervais, Adrian ; et al.

ISSN: 0027-8424.

Schlagworte: [SDV.TOX]Life Sciences [q-bio]/Toxicology; [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system; [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases; [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases; [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
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14
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation

von Haertle, Larissa ; Müller, Tobias ; Lardenoije, Roy ; et al.

Clinical Epigenetics. 11(1)
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15
Catatonia in Down's syndrome: An under-recognized syndrome during regression

von Jakubowicz, Barbara ; Baptista, Axel ; Ravel, Aimé ; et al.

In Schizophrenia Research November 2023 261:107-109
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16
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease

von Viard, Julia ; Loe-Mie, Yann ; Daudin, Rachel ; et al.

ISSN: 2575-1077 ; Life Science Alliance ; https://hal.science/hal-04219180 ; Life Science Alliance, 2022, 5 (12), ⟨10.26508/lsa.202101205⟩.

Schlagworte: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
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17
Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects

von Florence Poizeau ; Emilie Sbidian ; Clotilde Mircher ; et al.

Acta Dermato-Venereologica, Vol 99, Iss 3, Pp 351-352 (2018)

Schlagworte: hidradenitis suppurativa; Down syndrome; prevalence; Dermatology; RL1-803
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18
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)

von Cieuta-Walti, Cécile ; Cuenca-Royo, Aida ; Langohr, Klaus ; et al.

ISSN: 1098-3600.

Schlagworte: EGCG; Safety; Down Syndrome; Double-Blind Method; Dietary Supplements; Cognition; Children; Catechin; Male; Humans; Child; Female; [SDV]Life Sciences [q-bio]
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19
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)

von Cieuta Walti, Cécile ; Cuenca Royo, Aida ; Langohr, Klaus ; et al.

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Schlagworte: Children; Cognition; Down syndrome; Síndrome de Down; Infants
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20
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

von Mégarbané, André ; Ravel, Aimé ; Mircher, Clotilde ; et al.

In Genetics in Medicine September 2009 11(9):611-616
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21
Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis

von Sacco, Silvia ; Bouis, Charles ; Gallard, Jennifer ; et al.

American Journal of Medical Genetics Part A ; volume 188, issue 3, page 818-827 ; ISSN 1552-4825 1552-4833
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22
Autoantibodies against type I IFNs in patients with life-threatening COVID-19

von Bastard, Paul ; Rosen, Lindsey B. ; Zhang, Qian ; et al.

Schlagworte: Medicina; Medicine
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23
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease

von European Commission ; Jérôme Lejeune Foundation ; Agence Nationale de la Recherche (France) ; et al.

Schlagworte: artículo
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24
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

von Zhang, Qian ; Bastard, Paul ; Liu, Zhiyong ; et al.

Schlagworte: Adolescent; Adult; Aged; 80 and over; Alleles; Asymptomatic Infections; Betacoronavirus; Child; Preschool; Coronavirus Infections; Female; Genetic Loci; Genetic Predisposition to Disease; Humans; Infant; Interferon Regulatory Factor-7; Interferon Type I; Loss of Function Mutation; Male; Middle Aged; Pandemics; Pneumonia; Viral; Receptor; Interferon alpha-beta; Toll-Like Receptor 3; Young Adult
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25
Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.

von Henri Blehaut ; Clotilde Mircher ; Aimé Ravel ; et al.

PLoS ONE, Vol 5, Iss 1, p e8394 (2010)

Schlagworte: Medicine; Science
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