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
-
2025
-
Ontology-Guided Prompting for Reasoning in Multimodal Vision-Language Models
- Kareem Elgohary
- Ali Ayadi
- Marzena Kawczynski
- Agnès Bloch-Zupan
- Cédric Wemmert
-
-
2024
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
2023
-
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
-