Agnès BLOCH-ZUPAN

Publications

• 2023

  • 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

  • Primary failure of eruption: From molecular diagnosis to therapeutic management

    • Delphine Wagner
    • Tristan Rey
    • Marie Cecile Maniere
    • Sarah Dubourg
    • Agnès Bloch-Zupan
    • Marion Strub

    Journal of Oral Biology and Craniofacial Research ; Volume: 13 ; Page: 169-176

    HAL DOI

  • GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome

    • Florent Colin
    • Pauline Burger
    • Timothée Mazzucotelli
    • Axelle Strehle
    • Joost Kummeling
    • Nicole Collot
    • Elyette Broly
    • Angela T. Morgan
    • Kenneth A. Myers
    • Agnès Bloch-Zupan
    • Charlotte W. Ockeloen
    • Bert B.A. de Vries
    • Tjitske Kleefstra
    • Pierre Parrend
    • David A. Koolen
    • Jean-Louis Mandel

    Genetics in Medicine Open ; Volume: 1 ; Page: 100817

    HAL DOI

• 2021

  • Robert Frank: A Pioneer and Visionary Scientist in Oral Medicine

    • Corinne Taddei-Gross
    • Anne-Marie Musset
    • Youssef Haikel
    • Agnès Bloch

    Journal of Dental Research ; Volume: 100 ; Page: 1309-1312

    HAL DOI

  • Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

    • Salima El Chehadeh
    • Anne Legrand
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Clarisse Billon
    • Salma Adham
    • Xavier Jeunemaître
    • Roland Jaussaud
    • Jean Muller
    • Elise Schaefer
    • Karelle Benistan
    • Sébastien Gaertner
    • Agnès Bloch‐zupan
    • Aymeric Courval
    • Marie‐cécile Manière
    • Catherine Petit
    • Anne‐claire Bursztejn
    • Laurence Bal
    • Anthony Reyre
    • Agathe Chammas
    • ...

    Clinical Genetics ; Volume: 100 ; Page: 206-212

    HAL DOI

  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

    • Bradley Bowles
    • Alejandro Ferrer
    • Carla J. Nishimura
    • Filippo Pinto E. Vairo
    • Tristan Rey
    • Bruno Leheup
    • Jennifer Sullivan
    • Kelly Schoch
    • Nicholas Stong
    • Emanuele Agolini
    • Dario Cocciadiferro
    • Abigail Williams
    • Alex Cummings
    • Sara Loddo
    • Silvia Genovese
    • Chelsea Roadhouse
    • Kirsty Mcwalter
    • Chumei Li
    • Dusica Babovic-Vuksanovic
    • Brendan C. Lanpher
    • ...

    Am J Med Genet A ; Volume: 185 ; Page: 2417-2433

    HAL DOI

  • COVID-19 and Dentistry in 72 Questions: An Overview of the Literature

    • Stéphane Derruau
    • Jerome Bouchet
    • Ali Nassif
    • Alexandre Baudet
    • Kazutoyo Yasukawa
    • Sandrine Lorimier
    • Isabelle Prêcheur
    • Agnès Bloch-Zupan
    • Bernard Pellat
    • Hélène Chardin
    • Sophie Jung

    Journal of Clinical Medicine ; Volume: 10 ; Page: 779

    HAL DOI

• 2020

  • Heimler Syndrome

    • S. Mechaussier
    • I. Perrault
    • H. Dollfus
    • A. Bloch-Zupan
    • N. Loundon
    • L. Jonard
    • S. Marlin

    Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases ; Volume: 1299 ; Page: 81-87

    HAL DOI

  • Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss

    • Supawich Morkmued
    • François Clauss
    • Brigitte Schuhbaur
    • Valerie Fraulob
    • Eric Mathieu
    • Joseph Hemmerlé
    • Hans Clevers
    • Bon-Kyoung Koo
    • Pascal Dollé
    • Agnès Bloch-Zupan
    • Karen Niederreither

    Scientific Reports ; Volume: 10 ; Page: 14817

    HAL DOI

  • Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

    • Felix Kunz
    • Hülya Kayserili
    • Alina Midro
    • Deepthi de Silva
    • Sriyani Basnayake
    • Yeliz Güven
    • Jan Borys
    • Denny Schanze
    • Angelika Stellzig-Eisenhauer
    • Agnès Bloch-Zupan
    • Martin Zenker

    American Journal of Medical Genetics Part A ; Volume: 182 ; Page: 1681-1689

    HAL DOI