Publications scientifiques

Publications

• 2023

  • Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome

    • Arianne Bouman
    • Romy N Bouwmeester
    • Leo A van Vlimmeren
    • Pauline Burger
    • Jean‐louis Mandel
    • Bert B A de Vries
    • Marinus de Kleuver
    • Willemijn M Klein
    • Joyce M Geelen
    • David A Koolen

    American Journal of Medical Genetics Part A ; Volume: 191 ; Page: 2346 - 2355

    HAL DOI

  • GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome

    • Pauline Burger
    • Florent Colin
    • Axelle Strehle
    • Timothée Mazzucotelli
    • Nicole Collot
    • Ariane Bouman
    • Daphna Landau Prat
    • David Geneviève
    • Valentin Ruault
    • Roseline Caumes
    • Thomas Smol
    • Jamal Ghoumid
    • Joost Kummeling
    • Charlotte Ockeloen
    • Tjitske Kleefstra
    • Pierre Parrend
    • Amélie Piton
    • David Koolen
    • Jean-Louis Mandel

    Genetics in Medicine Open ; Volume: 1 ; Page: 100699

    HAL DOI

  • KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation

    • Li Ran
    • Tao Ye
    • Eric Erbs
    • Izabela Sumara
    • Romeo Ricci
    • Zhirong Zhang
    • Stephan Ehl
    • Nathalie Spassky

    Science Immunology ; Volume: 8 ; Page: adf4699

    HAL DOI

  • Expression and function of Caenorhabditis elegans UNCP-18, a paralog of the SM protein UNC-18

    • Marion Boeglin
    • Eduardo Leyva-Díaz
    • Oliver Hobert

    Genetics ; Volume: 225 ; Page: iyad180

    HAL DOI

  • Development of HPV16 mouse and dog models for more accurate prediction of human vaccine efficacy

    • Emmanuelle Totain
    • Loic Lindner
    • Nicolas Martin
    • Yolande Misseri
    • Alexandra Iché
    • Marie-Christine Birling
    • Tania Sorg
    • Yann Hérault
    • Alain Bousquet-Melou
    • Pascale Bouillé
    • Christine Duthoit
    • Guillaume Pavlovic
    • Severine Boullier

    Laboratory Animal Research ; Volume: 39 ; Page: 14

    HAL DOI

  • Molecular characterization of the intact mouse muscle spindle using a multi-omics approach

    • Bavat Bornstein
    • Lia Heinemann-Yerushalmi
    • Sharon Krief
    • Ruth Adler
    • Bareket Dassa
    • Dena Leshkowitz
    • Minchul Kim
    • Guy Bewick
    • Robert W Banks
    • Elazar Zelzer

    eLife ; Volume: 12 ; Page: e81843

    HAL DOI

  • Structural insights into the HNF4 biology

    • Brice Beinsteiner
    • Isabelle M L Billas
    • Dino Moras

    Frontiers in Endocrinology ; Volume: 14

    HAL DOI

  • Racial Disparities in MiT Family Translocation Renal Cell Carcinoma

    • Xiaofan Lu
    • Nassim Tawanaie Pour Sedehi
    • Xiaoping Su
    • Fangrong Yan
    • Omar Alhalabi
    • Nizar Tannir
    • Gabriel Malouf

    Oncologist ; Volume: 28 ; Page: 1009-1013

    HAL DOI

  • Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

    • Matthieu Béreau
    • Anna Castrioto
    • Mathieu Servant
    • Eugénie Lhommée
    • Maxime Desmarets
    • Amélie Bichon
    • Pierre Pélissier
    • Emmanuelle Schmitt
    • Hélène Klinger
    • Nadine Longato
    • Clelie Phillipps
    • Thomas Wirth
    • Valérie Fraix
    • Isabelle Benatru
    • Franck Durif
    • Jean-Philippe Azulay
    • Elena Moro
    • Emmanuel Broussolle
    • Stéphane Thobois
    • Christine Tranchant
    • ...

    Scientific Reports ; Volume: 13 ; Page: 21234

    HAL DOI

  • IL-3 produced by T cells is crucial for basophil extravasation in hapten-induced allergic contact dermatitis

    • Carole El Hachem
    • Pierre Marschall
    • Pierre Hener
    • Anupama Karnam
    • Srinivasa Reddy Bonam
    • Pierre Meyer
    • Eric Flatter
    • Marie-Christine Birling
    • Jagadeesh Bayry
    • Mei Li

    Frontiers in Immunology ; Volume: 14 ; Page: 1151468

    HAL DOI