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Structure: Internal structure identifier : 497295
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A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn’s Disease

Sara Frade-Proud'Hon-Clerc , Thomas Smol , Frederic Frenois , Olivier Sand , Emmanuel Vaillant , et al.
International Journal of Molecular Sciences, 2019, 20 (4), pp.835. ⟨10.3390/ijms20040835⟩
Journal articles hal-02561826v1
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Antioxidants other than vitamin c may be detected by glucose meters: immediate relevance for patients with disorders targeted by antioxidant therapies

Guillaume Grzych , Jean-David Pekar , Marie Joncquel-Chevalier Curt , Raphael Decoin , Pauline Vergriete , et al.
Clinical biochemistry, 2021, Clinical biochemistry, 92, pp.71-76. ⟨10.1016/j.clinbiochem.2021.03.007⟩
Journal articles hal-03405515v1
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Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Mélissa Burgevin , Agnès Lacroix , Karine Bourdet , Régis Coutant , Bruno Donadille , et al.
European Journal of Medical Genetics, 2022, 65 (5), pp.104482. ⟨10.1016/j.ejmg.2022.104482⟩
Journal articles hal-03629998v1
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Argan oil prevents down-regulation induced by endotoxin on liver fatty acid oxidation and gluconeogenesis and on peroxisome proliferator-activated receptor gamma coactivator-1 alpha, (PGC-1alpha), peroxisome proliferator-activated receptor gamma (PPARgamma) and estrogen related receptor alpha (ERRalpha)

Riad El Kebbaj , Pierre Andreoletti , Hammam L El Hajj , Youssef El Kharrassi , Joseph Vamecq , et al.
Biochimie Open, 2015, 1, pp.51-59. ⟨10.1016/j.biopen.2015.10.002⟩
Journal articles inserm-01534672v1

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid , Morgane Stichelbout , Anne-Sophie Jourdain , Frederic Frenois , Sophie Lejeune-Dumoulin , et al.
Genetics in Medicine, 2017, 19 (9), pp.1013-1021. ⟨10.1038/gim.2017.11⟩
Journal articles hal-03676412v1

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna Frints , Aysegul Ozanturk , Germán Rodriguez Criado , Ute Grasshoff , Bas de Hoon , et al.
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Journal articles hal-03677837v1

Reappearance of arteriovenous malformations after complete resection of ruptured arteriovenous malformations: true recurrence or false-negative early postoperative imaging result?

Rabih Aboukais , Matthieu Vinchon , Mathilde Quidet , Philippe Bourgeois , Xavier Leclerc , et al.
Journal of Neurosurgery, 2017, Journal of neurosurgery, 126 (4), pp.1088-1093. ⟨10.3171/2016.3.JNS152846⟩
Journal articles hal-03357891v1

Holt-oram syndrome: clinical and molecular description of 78 patients with tbx5 variants

Clemence Vanlerberghe , Anne-Sophie Jourdain , Jamal Ghoumid , Frederic Frenois , Aurelie Mezel , et al.
Eur J Hum Genet, 2018, European journal of human genetics EJHG, 27 (3), pp.360-368. ⟨10.1038/s41431-018-0303-3⟩
Journal articles hal-03351279v1

DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.

A. Bruel , B. Gerard , A. Piton , F. Tran Mau-Them , A. Sorlin , et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.333-334. ⟨10.1038/s41431-020-00739-z⟩
Journal articles hal-03131626v1

Galectin-3 is a non-classic RNA binding protein that stabilizes the mucin MUC4 mRNA in the cytoplasm of cancer cells

Lucie Coppin , Audrey Vincent , Frédéric Frénois , Belinda Duchêne , Fatima Lahdaoui , et al.
Scientific Reports, 2017, 7, pp.43927. ⟨10.1038/srep43927⟩
Journal articles hal-01534451v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose‐anne Thépault , Dévina C Ung , et al.
Human Mutation, 2021, 42 (7), pp.848 - 861. ⟨10.1002/humu.24208⟩
Journal articles inserm-03273379v1

Difficulties adapting to nail-patella syndrome: a qualitative study of patients'' perspectives

Laura Geerts-Crabbe , Pascal Antoine , Elodie Brugalle , Jamal Ghoumid , Laurence Bellengier , et al.
Journal of Genetic Counseling, 2019, Journal of Genetic Counseling, ⟨10.1002/jgc4.1153⟩
Journal articles hal-03351307v1
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Is copd associated with increased risk for microaspiration in intubated critically ill patients ?

Thecle Degroote , Emmanuelle Jaillette , Jean Reignier , Farid Zerimech , Christophe Girault , et al.
Annals of Intensive Care, 2021, Annals of Intensive Care, 11, pp.7. ⟨10.1186/s13613-020-00794-1⟩
Journal articles hal-03678143v1
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Protease-antiprotease imbalance in patients with severe COVID-19

Farid Zerimech , Merce Jourdain , Brigitte Onraed , Marion Bouchecareilh , Boualem Sendid , et al.
Clinical Chemistry and Laboratory Medicine, 2021, 59 (8), pp.e330-e334. ⟨10.1515/cclm-2021-0137⟩
Journal articles hal-03436312v1
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Protective Effect of Argan and Olive Oils against LPS-Induced Oxidative Stress and Inflammation in Mice Livers.

Soufiane El Kamouni , Riad El Kebbaj , Pierre Andreoletti , Abderrahim El Ktaibi , Issam Rharrassi , et al.
International Journal of Molecular Sciences, 2017, 18 (10), Epub ahead of print. ⟨10.3390/ijms18102181⟩
Journal articles inserm-01620279v1
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Two Argan Oil Phytosterols, Schottenol and Spinasterol, Attenuate Oxidative Stress and Restore LPS-Dysregulated Peroxisomal Functions in Acox1−/− and Wild-Type BV-2 Microglial Cells

Soukaina Essadek , Catherine Gondcaille , Stéphane Savary , Mohammad Samadi , Joseph Vamecq , et al.
Antioxidants , 2023, 12 (1), pp.168. ⟨10.3390/antiox12010168⟩
Journal articles hal-03994321v1

Impact de la pandémie COVID-19 sur la neurochirurgie pédiatrique en France

F. Di Rocco , Didier Scavarda , Matthieu Vinchon , Alexandru Szathmari , Laurent Riffaud , et al.
Neurochirurgie, 2020, Neuro-Chirurgie, 66 (4), ⟨10.1016/j.neuchi.2020.05.002⟩
Journal articles hal-03405197v1
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle , et al.
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Journal articles hal-02393697v1