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
2019
Article in a journal
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
- Virginie Laugel-Haushalter
- Séverine Bär
- Elise Schaefer
- Corinne Stoetzel
- Véronique Geoffroy
- Yves Alembik
- Naji Kharouf
- Mathilde Huckert
- Pauline Hamm
- Joseph Hemmerlé
- Marie-Cécile Maniere
- Sylvie Friant
- Hélène Dollfus
- Agnès Bloch-Zupan
Frontiers in Genetics ; Volume: 10 ; Page: 504
Article in a journal
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
- Anika Wehrle
- Tomasz M Witkos
- Sheila Unger
- Judith Schneider
- John A Follit
- Johannes Hermann
- Tim Welting
- Virginia Fano
- Marja Hietala
- Nithiwat Vatanavicharn
- Katharina Schoner
- Jürgen Spranger
- Miriam Schmidts
- Bernhard Zabel
- Gregory J Pazour
- Agnès Bloch-Zupan
- Gen Nishimura
- Andrea Superti-Furga
- Martin Lowe
- Ekkehart Lausch
JCI Insight ; Volume: 4 ; Page: e124701
2018
Article in a journal
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review
- Jane Hejlesen
- Line Underbjerg
- Hans Gjørup
- Agnès Bloch-Zupan
- Tanja Sikjaer
- Lars Rejnmark
- Dorte Haubek
Frontiers in Physiology ; Volume: 9 ; Page: 701
Article in a journal
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
- Virginie Haushalter
- Supawich Morkmued
- Corinne Stoetzel
- Véronique Geoffroy
- Jean Muller
- Anne Boland
- Jean-François Deleuze
- Kirsley Chennen
- Waranuch Pitiphat
- Helene Dollfus
- Karen Niederreither
- Agnès Bloch-Zupan
- Patimaporn Pungchanchaikul
Frontiers in Physiology ; Volume: 9 ; Page: 1329
2017
Article in a journal
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study
- C. Tardieu
- S. Jung
- K. Niederreither
- M. Prasad
- S. Hadj-Rabia
- Nicole Philip
- A. Mallet
- E. Consolino
- E. Sfeir
- B. Noueiri
- N. Chassaing
- H. Dollfus
- M. C. Maniere
- A. Bloch-Zupan
- F. Clauss
Clinical Genetics ; Volume: 92 ; Page: 477-486
Article in a journal
Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.
- Supawich Morkmued
- Joseph Hemmerle
- Eric Mathieu
- Virginie Haushalter
- Branka Dabovic
- Daniel B Rifkin
- Pascal Dolle
- Karen Niederreither
- Agnès Bloch-Zupan
European journal of oral sciences ; Volume: 125 ; Page: 8-17
Article in a journal
Hypophosphatasie : atteintes buccale et dentaire [Hypophosphatasia: oral cavity and dental disorders]
- Agnès Bloch
- Frédéric Vaysse
Archives de Pédiatrie ; Volume: 24 ; Page: 5S80-5S84
Article in a journal
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta
- Barbara Gasse
- Megana Prasad
- Sidney Delgado
- Mathilde Huckert
- Marzena Kawczynski
- Annelyse Garret-Bernardin
- Serena Lopez-Cazaux
- Isabelle Bailleul-Forestier
- Marie-Cécile Manière
- Corinne Stoetzel
- Agnès Bloch-Zupan
- Jean-Yves Sire
Frontiers in Physiology ; Volume: 8 ; Page: 398
2016
Article in a journal
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
- Anna Schossig
- Agnès Bloch-Zupan
- Adrian Lussi
- Nicole I Wolf
- Salmo Raskin
- Monika Cohen
- Fabienne Giuliano
- Julie Jurgens
- Birgit Krabichler
- David A Koolen
- Nara Lygia de Macena Sobreira
- Elisabeth Maurer
- Michèle Muller-Bolla
- Johann Penzien
- Johannes Zschocke
- Ines Kapferer-Seebacher
Journal of Medical Genetics ; Volume: 54 ; Page: 54-62
Article in a journal
Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes
- M K Prasad
- S Laouina
- M El Alloussi
- Helene Dollfus
- Agnès Bloch-Zupan
Journal of dental research ; Volume: 95 ; Page: 1457-1453