Agnès BLOCH-ZUPAN

Publications

• 2024

  • Article in a journal

    Organotypic 3D cellular models mimicking the epithelio-ectomesenchymal bi-layer during odontogenesis

    • Fadi Jerbaka
    • Varvara Gribova
    • Tristan Rey
    • Soufian El-Faloussi
    • Marzena Kawczynski
    • Naji Kharouf
    • Yann Hérault
    • Youri Arntz
    • Agnès Bloch-Zupan
    • Isaac Maximiliano Bugueno Valdebenito

    Tissue Engineering: Parts A, B, and C

    HAL DOI

  • Article in a journal

    Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations

    • Isaac Bugueno Valdebenito
    • Tristan Rey
    • Alexandra Jimenez-Armijo
    • Marzena Kawczynski
    • Naji Kharouf
    • Marie Cecile Maniere
    • Yann Hérault
    • Agnès Bloch-Zupan
    • Virginie Haushalter-Laugel

    Genes & Diseases ; Volume: 11 ; Page: 101303

    HAL DOI

  • Article in a journal

    Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability

    • Claire E L Smith
    • Virginie Laugel-Haushalter
    • Ummey Hany
    • Sunayna Best
    • Rachel L Taylor
    • James A Poulter
    • Saskia B Wortmann
    • Rene G Feichtinger
    • Johannes A Mayr
    • Suhaila Al Bahlani
    • Georgios Nikolopoulos
    • Alice Rigby
    • Graeme C Black
    • Christopher M Watson
    • Sahar Mansour
    • Chris F Inglehearn
    • Alan J Mighell
    • Agnès Bloch-Zupan

    Journal of Medical Genetics ; Volume: 61 ; Page: 689-698

    HAL DOI

  • Article in a journal

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    • Didier Lacombe
    • Agnès Bloch-Zupan
    • Cecilie Bredrup
    • Edward Cooper
    • Sofia Douzgou Houge
    • Sixto García-Miñaúr
    • Hülya Kayserili
    • Lidia Larizza
    • Vanesa Lopez Gonzalez
    • Leonie Menke
    • Donatella Milani
    • Francesco Saettini
    • Cathy Stevens
    • Lloyd Tooke
    • Jill van der Zee
    • Maria van Genderen
    • Julien Van-Gils
    • Jane Waite
    • Jean-Louis Adrien
    • Oliver Bartsch
    • ...

    Journal of Medical Genetics ; Volume: 61 ; Page: 503-519

    HAL DOI

  • Article in a journal

    Orofacial Anomalies in Kindler Epidermolysis Bullosa

    • Susanne Krämer
    • Anna Lena Hillebrecht
    • Yao Wang
    • Mihail-Alexandru Badea
    • Jose Ignacio Barrios
    • Sorina Danescu
    • Ignacia Fuentes
    • Demet Kartal
    • Alfred Klausegger
    • Enrique Ponce de León
    • Reinhard Schilke
    • Ivelina Yordanova
    • Agnès Bloch-Zupan
    • Cristina Has

    JAMA Dermatology ; Volume: 160 ; Page: 544

    HAL DOI

  • Article in a journal

    The tooth: A marker of developmental abnormalities, La dent : un marqueur d’anomalies génétiques du développement

    • Muriel de la Dure-Molla
    • Celine Gaucher
    • Nicolas Dupré
    • Agnès Bloch-Zupan
    • Ariane Berdal
    • Catherine Chaussain

    Médecine/Sciences ; Volume: 40 ; Page: 16 - 23

    HAL DOI

  • Article in a journal

    The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome

    • Alexandra Jimenez-Armijo
    • Supawich Morkmued
    • José Tomás Ahumada
    • Naji Kharouf
    • Yvan de Feraudy
    • Gergo Gogl
    • Fabrice Riet
    • Karen Niederreither
    • Jocelyn Laporte
    • Marie Christine Birling
    • Mohammed Selloum
    • Yann Hérault
    • Magali Hernandez
    • Agnès Bloch-Zupan

    Scientific Reports ; Volume: 14 ; Page: 445

    HAL DOI

  • Article in a journal

    i-Dent: A virtual assistant to diagnose rare genetic dental diseases

    • Hocine Kadi
    • Marzena Kawczynski
    • Sara Bendjama
    • Jesus Zegarra Flores
    • Audrey Leong-Hoi
    • Hugues de Lastic
    • Julien Balbierer
    • Claire Mabileau
    • Jean Pierre Radoux
    • Bruno Grollemund
    • Jean Jaegle
    • Christophe Guébert
    • Bertrand Bisch
    • Agnès Bloch-Zupan

    Computers in Biology and Medicine ; Volume: 180 ; Page: 108927

    HAL DOI

• 2023

  • Article in a journal

    Association between malocclusions and amelogenesis imperfecta genotype and phenotype

    • Alice Broutin
    • Angélique K. Bidi-Lebihan
    • Thibault Canceill
    • Frédéric Vaysse
    • Agnès Bloch-Zupan
    • Isabelle Bailleul-Forestier
    • Emmanuelle Noirrit-Esclassan

    International Orthodontics ; Volume: 21 ; Page: 100789

    HAL DOI

  • Article in a journal

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

    • Agnès Bloch-Zupan
    • Tristan Rey
    • Alexandra Jimenez Armijo
    • Marzena Kawczynski
    • Naji Kharouf
    • Muriel de la Dure-Molla
    • Emmanuelle Noirrit-Esclassan
    • Magali Hernandez
    • Clara Joseph-Beaudin
    • Serena Lopez
    • Corinne Tardieu
    • Beatrice Thivichon-Prince
    • Tatjana Dostalova
    • Milan Macek
    • Mustapha El Alloussi
    • Leila Qebibo
    • Supawich Morkmued
    • Patimaporn Pungchanchaikul
    • Blanca Urzúa Orellana
    • Marie-Cécile Maniere
    • ...

    Frontiers in Physiology ; Volume: 14

    HAL DOI