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
2021
Article in a journal
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
2020
Chapter of the book
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
Article in a journal
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
Article in a journal
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
2019
Article in a journal
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders
- Muriel Dure‐molla
- Benjamin Philippe Fournier
- Maria Cristina Manzanares
- Ana Carolina Acevedo
- Raoul C. Hennekam
- Lisa Friedlander
- Marie‐laure Boy‐lefèvre
- Stephane Kerner
- Steve Toupenay
- Pascal Garrec
- Brigite Vi‐fane
- Rufino Felizardo
- Marie‐violaine Berteretche
- Laurence Jordan
- François Ferré
- François Clauss
- Sophie Jung
- Myriam Chalendar
- Sebastien Troester
- Marzena Kawczynski
- ...
American Journal of Medical Genetics Part A ; Volume: 179 ; Page: 1913-1981
Article in a journal
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
- Anne Molitor
- Tony Prud'Homme
- Zhichao Miao
- Solène Conrad
- Agnès Bloch-Zupan
- Angelique Pichot
- Antoine Hanauer
- Bertrand Isidor
- Seiamak Bahram
- Raphael Carapito
Journal of Human Genetics
Article in a journal
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
- Tristan Rey
- Julien Tarabeux
- Bénédicte Gerard
- Marion Delbarre
- Antony Le Béchec
- Corinne Stoetzel
- Megana Prasad
- Virginie Laugel-Haushalter
- Marzena Kawczynski
- Jean Muller
- Jamel Chelly
- Hélène Dollfus
- Marie-Cécile Maniere
- Agnès Bloch-Zupan
Methods in Molecular Biology ; Volume: 1922
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