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
2016
Article in a journal
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
- Agnès Bloch-Zupan
- Mathilde Huckert
- Corinne Stoetzel
- Julia Meyer
- Véronique Geoffroy
- Rabisoa Razafindrakoto
- Saholy Ralison
- Jean-Claude Randrianaivo
- Georgette Ralison
- Rija Andriamasinoro
- Rija Ramanampamaharana
- Solofomanantsoa Randrianazary
- Béatrice Richard
- Philippe Gorry
- Marie-Cécile Manière
- Simone Rakoto Alson
- Hélène Dollfus
Frontiers in Physiology ; Volume: 7 ; Page: 70
Article in a journal
Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects.
- Supawich Morkmued
- Virginie Laugel-Haushalter
- Eric Mathieu
- Brigitte Schuhbaur
- Joseph Hemmerlé
- Pascal Dollé
- Agnès Bloch-Zupan
- Karen Niederreither
Frontiers in Physiology ; Volume: 7 ; Page: 673
Article in a journal
L’implantologie dans les cas de dysplasie ectodermique [= Implantology in cases of ectodermal dysplasia]
- François Clauss
- Frédéric Obry
- Sophie Jung
- Jean-Christophe Dahlet
- Etienne Waltmann
- Agnès Bloch-Zupan
- V. Vogt
- Marie Cecile Maniere
Revue d'odonto-stomatologie ; Volume: 45 ; Page: 220-233
Article in a journal
Diagnostic des anomalies bucco-dentaires associées aux maladies rares.
- François Clauss
- Sophie Jung
- Fabien Bornert
- Agnès Bloch
- Marie Cecile Maniere
Réalités Cliniques ; Page: 176-185
2015
Article in a journal
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
- Mathilde Huckert
- Corinne Stoetzel
- Supawich Morkmued
- Virginie Laugel-Haushalter
- Véronique Geoffroy
- Jean Muller
- François Clauss
- Megana Prasad
- Frédéric Obry
- Jean Louis Raymond
- Marzena Switala
- Yves Alembik
- Sylvie Soskin
- Eric Mathieu
- Joseph Hemmerlé
- Jean-Luc Weickert
- Branka Brukner Dabovic
- Daniel Rifkin
- Annelies Dheedene
- Eveline Boudin
- ...
Human Molecular Genetics ; Volume: 24 ; Page: 3038-3049
Article in a journal
Phenotypic and evolutionary implications of modulating the ERK-MAPK cascade using the dentition as a model
- Pauline Marangoni
- Cyril Charles
- Paul Tafforeau
- Virginie Laugel-Haushalter
- Adriane Joo
- Agnes Bloch-Zupan
- Ophir D. Klein
- Laurent Viriot
Scientific Reports ; Volume: 5 ; Page: 12 p.
2014
Article in a journal
MSX2 Gene Duplication in a Patient with Eye Development Defects.
- Julie Plaisancié
- Corinne Collet
- Valerie Pelletier
- Yaumara Perdomo
- Fouzia Studer
- Melanie Fradin
- Elise Schaefer
- Claude Speeg-Schatz
- Agnès Bloch-Zupan
- Elisabeth Flori
- Helene Dollfus
Ophthalmic genetics ; Volume: 36 ; Page: 353-358
Article in a journal
RSK2 is a modulator of craniofacial development.
- Virginie Laugel-Haushalter
- Marie Paschaki
- Pauline Marangoni
- Coralie Pilgram
- Arnaud Langer
- Thibaut Kuntz
- Julie Demassue
- Supawich Morkmued
- Philippe Choquet
- André Constantinesco
- Fabien Bornert
- Mathieu Schmittbuhl
- Solange Pannetier
- Laurent Viriot
- Andre Hanauer
- Pascal Dollé
- Agnès Bloch-Zupan
PLoS ONE ; Volume: 9 ; Page: e84343
Article in a journal
A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
- Mathilde Huckert
- Helen Mecili
- Virginie Laugel-Haushalter
- Corinne Stoetzel
- Jean Muller
- Elisabeth Flori
- Vincent Laugel
- Marie-Cécile Maniere
- Hélène Dollfus
- Agnès Bloch-Zupan
Molecular Syndromology ; Volume: 5 ; Page: 293--298
Article in a journal
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
- Muriel de La Dure-Molla
- Mickaël Quentric
- Paulo Marcio Yamaguti
- Ana Carolina Acevedo
- Alan J. Mighell
- Miikka Vikkula
- Mathilde Huckert
- Ariane Berdal
- Agnès Bloch-Zupan
Orphanet Journal of Rare Diseases ; Volume: 9 ; Page: 84