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
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2016
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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
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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
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Article in a journal
Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child.
- Samir Laouina
- Agnès Bloch-Zupan
- Mustapha El Alloussi
Clinical dysmorphology ; Volume: 26 ; Page: 114-116
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Article in a journal
Hypophosphatasia: diagnosis and clinical signs – a dental surgeon perspective
- Agnes Bloch-Zupan
International Journal of Paediatric Dentistry ; Volume: 26 ; Page: 426-438
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Article in a journal
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
- Megana K. Prasad
- Véronique Geoffroy
- Serge Vicaire
- Bernard Jost
- Michael Dumas
- Stéphanie Le Gras
- Marzena Switala
- Barbara Gasse
- Virginie Laugel-Haushalter
- Marie Paschaki
- Bruno Leheup
- Dominique Droz
- Amelie Dalstein
- Adeline Loing
- Bruno Grollemund
- Michèle Muller-Bolla
- Serena Lopez-Cazaux
- Maryline Minoux
- Sophie Jung
- Frédéric Obry
- ...
Journal of Medical Genetics ; Volume: 53 ; Page: 98--110
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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
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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
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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
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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
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2015
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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
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