Pathophysiology of Down's syndrome and rare dose-effect diseases causing intellectual disabilities (ID) or autism spectrum disorders (ASD) and other comorbidities
Team Leader : Yann HERAULT
Department : Translational medecine and neurogenetics
Agnès BLOCH-ZUPAN
Research team(s)
Publications
2024
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
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
Article in a journal
Organotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis
- Fadi Jerbaka
- Varvara Gribova
- Tristan Rey
- Soufian Elfaloussi
- Marzena Kawczynski
- Naji Kharouf
- Yann Herault
- Youri Arntz
- Agnès Bloch-Zupan
- Isaac Maximiliano Bugueno
Tissue Engineering: Parts A, B, and C ; Volume: 31 ; Page: 471 - 488
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
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
Article in a journal
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
Article in a journal
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
2021
Article in a journal
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
Article in a journal
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
Article in a journal
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