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
Article in a journal
Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models
- José Tomás Ahumada Saavedra
- Claire Chevalier
- Agnes Bloch Zupan
- Yann Herault
PLoS Genetics ; Volume: 21 ; Page: e1011873
Article in a journal
PFMG2025–integrating genomic medicine into the national healthcare system in France
- Caroline Abadie
- Aldja Abderrahmane
- Ouarda Abdous
- Carine Abel
- Oanez Ackermann
- Cécile Acquaviva
- Flavie Ader
- Salma Adham
- Dalila Adjaoud
- Alexandra Afenjar
- Nathalie Aladjidi
- Anne-Sophie Alary
- Frédérique Albarel
- Sabrina Albert
- Lise Allard
- Ingrid Allix
- Violaine Alunni
- Inês F Amado
- Cyril Amouroux
- Nicolas André
- ...
The Lancet Regional Health - Europe ; Volume: 50
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
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
Article in a journal
Prevalence of tooth agenesis and supernumerary teeth related to different Thai cleft lip and cleft palate populations
- Wai Phyo Aung
- Patimaporn Pungchanchaikul
- Araya Pisek
- Agnès Bloch-Zupan
- Supawich Morkmued
BMC Oral Health ; Volume: 24 ; Page: 960
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
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
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
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
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