Publications scientifiques
Les équipes de recherches de l'IGBMC publient régulièrement des articles qui font avancer les connaissances dans divers domaines de recherche. Vous trouverez sur cette page l'ensemble des publications dans lesquels les travaux de nos scientifiques sont cités.
Publications
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2021
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
- Clarisse Delvallée
- Samuel Nicaise
- Manuela Antin
- Anne-Sophie Leuvrey
- Elsa Nourisson
- Carmen C Leitch
- Georgios Kellaris
- Corinne Stoetzel
- Véronique Geoffroy
- Sophie Scheidecker
- Boris Keren
- Christel Depienne
- Joakim Klar
- Niklas Dahl
- Jean-François Deleuze
- Emmanuelle Génin
- Richard Redon
- Florence Demurger
- K Devriendt
- Michele Mathieu-Dramard
- ...
Clinical Genetics ; Volume: 99 ; Page: 318-324
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
- Andreas Traschutz
- Andrea Cortese
- Selina Reich
- Natalia Dominik
- Jennifer Faber
- Heike Jacobi
- Annette M. Hartmann
- Dan Rujescu
- Solveig Montaut
- Andoni Echaniz‐laguna
- Yon Andoni Echaniz-Laguna
- Sevda Erer
- Valerie Cornelia Schütz
- Alexander A. Tarnutzer
- Marc Sturm
- Tobias B. Haack
- Nadège Vaucamps-Diedhiou
- Hélène Puccio
- Ludger Schöls
- Thomas Klockgether
- ...
Neurology ; Volume: 96
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Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project
- Nicole Mariani
- Alessandra Borsini
- Charlotte A.M. Cecil
- Janine Felix
- Sylvain Sebert
- Annamaria Cattaneo
- Esther Walton
- Yuri Milaneschi
- Guy Cochrane
- Clara Amid
- Jeena Rajan
- Juliette Giacobbe
- Yolanda Sanz
- Ana Agustí
- Tania Sorg
- Yann Herault
- Jouko Miettunen
- Priyanka Parmar
- Nadia Cattane
- Vincent Jaddoe
- ...
PLoS ONE ; Volume: 16 ; Page: e0245475
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Loss of POMC-mediated antinociception contributes to painful diabetic neuropathy
- Divija Deshpande
- Nitin Agarwal
- Thomas Fleming
- Claire Gaveriaux-Ruff
- Christophe S. N. Klose
- Anke Tappe-Theodor
- Roani Kuner
- Peter Nawroth
Nature Communications ; Volume: 12
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Single-cell RNA sequencing reveals intratumoral heterogeneity in primary uveal melanomas and identifies HES6 as a driver of the metastatic disease
- Charlotte Pandiani
- Thomas Strub
- Nicolas Nottet
- Yann Cheli
- Giovanni Gambi
- Karine Bille
- Chrystel Husser
- Mélanie Dalmasso
- Guillaume Béranger
- Sandra Lassalle
- Virginie Magnone
- Florence Pédeutour
- Marie Irondelle
- Célia Maschi
- Sacha Nahon-Estève
- Arnaud Martel
- Jean-Pierre Caujolle
- Paul Hofman
- Kévin Lebrigand
- Irwin Davidson
- ...
Cell Death and Differentiation
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Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms
- Anke Dijkstra
- Saif Haify
- Niek Verwey
- Niels Prins
- Esmay van Der Toorn
- Annemieke Rozemuller
- Marianna Bugiani
- Wilfred den Dunnen
- Peter Todd
- Nicolas Charlet-Berguerand
- Rob Willemsen
- Renate Hukema
- Jeroen Hoozemans
Brain Communications ; Volume: 3 ; Page: fcab007
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Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause
- V. Schneider
- M. Ferrari-Henquinet
- A. O. Diallo
- Jameleddine Chelly
- Mathieu Anheim
- Christine Tranchant
Revue Neurologique ; Volume: 177 ; Page: 707-708
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Combined In Vitro and In Vivo Approaches to Propose a Putative Adverse Outcome Pathway for Acute Lung Inflammation Induced by Nanoparticles: A Study on Carbon Dots
- Maud Weiss
- Jiahui Fan
- Mickaël Claudel
- Luc Lebeau
- Françoise Pons
- Carole Ronzani
MDPI AG ; Volume: 11 ; Page: 180
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EOSC-Life D1.2 EOSC repository deployment for project demonstrators
- Helen Parkinson
- Philip Gribbon
- Ugis Sarkans
- Gesa Witt
- Andrea Zaliani
- Manfred Kohler
- Jason Swedlow
- Jean-Marie Burel
- Morris Swertz
- Esther Van-Enckevort
- Petr Holub
- Marzia Massimi
- Rafaele Matteonie
- Holger Maier
- Reetta Hinttala
- Anne Heikkinen
- Philipp Gormanns
- Laura Del-Cano
- Laurent Vasseur
- Sophie Leblanc
- ...
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