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
2013
Article in a journal
Clinical utility gene card for: Hypophosphatasia – update 2013
- Etienne Mornet
- Christine Hofmann
- Agnès Bloch-Zupan
- Hermann Girschick
- Martine Le Merrer
European Journal of Human Genetics ; Volume: 22 ; Page: 572-572
Article in a journal
Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta
- B. Gasse
- E. Karayigit
- E. Mathieu
- S. Jung
- A. Garret
- M. Huckert
- S. Morkmued
- C. Schneider
- L. Vidal
- J. Hemmerle
- J. -Y. Sire
- A. Bloch-Zupan
Journal of Dental Research ; Volume: 92 ; Page: 598-603
Article in a journal
Case report: Macrodont mandibular second premolars, a hereditary dental anomaly
- A. Kyriazidou
- D. Haider
- C. Mason
- S. Parekh
- Agnès Bloch-Zupan
European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry ; Volume: 14 ; Page: 411-416
Article in a journal
A possible cranio-oro-facial phenotype in Cockayne syndrome.
- Agnès Bloch-Zupan
- Morgan Rousseaux
- Virginie Laugel
- Matthieu Schmittbuhl
- Rémy Mathis
- Emmanuelle Desforges
- Mériam Koob
- Ariane Zaloszyc
- Hélène Dollfus
- Vincent Laugel
Orphanet Journal of Rare Diseases ; Volume: 8 ; Page: 9
Article in a journal
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
- Graciana Jaureguiberry
- Muriel de la Dure-Molla
- David Parry
- Mickael Quentric
- Nina Himmerkus
- Toshiyasu Koike
- James Poulter
- Enriko Klootwijk
- Steven L. Robinette
- Alexander J. Howie
- Vaksha Patel
- Marie-Lucile Figueres
- Horia C. Stanescu
- Naomi Issler
- Jeremy K. Nicholson
- Detlef Bockenhauer
- Christopher Laing
- Stephen B. Walsh
- David A. Mccredie
- Sue Povey
- ...
Nephron Physiology ; Volume: 122 ; Page: 1--6
Article in a journal
Molars and incisors: show your microarray IDs
- Virginie Laugel-Haushalter
- Marie Paschaki
- Christelle Thibault-Carpentier
- Doulaye Dembele
- Pascal Dollé
- Agnès Bloch-Zupan
BMC Research Notes ; Volume: 6 ; Page: 113
2012
Article in a journal
From the Transcription of Genes Involved in Ectodermal Dysplasias to the Understanding of Associated Dental Anomalies
- Virginie Laugel-Haushalter
- A. Langer
- J. Marrie
- Valérie Fraulob
- Brigitte Schuhbaur
- M. Koch-Phillips
- P Dolle
- Agnès Bloch-Zupan
Molecular Syndromology ; Volume: 3 ; Page: 158-168
Article in a journal
The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium: Program
- Agnès Bloch-Zupan
- E Mornet
- J-L Millán
- S Usrspung
Bulletin du Groupement international pour la recherche scientifique en stomatologie & odontologie ; Volume: 51 ; Page: e1-e5
2011
Article in a journal
Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects
- Agnès Bloch-Zupan
- Xavier Jamet
- Christelle Etard
- Virginie Laugel
- Jean Muller
- Véronique Geoffroy
- Jean-Pierre Strauss
- Valérie Pelletier
- Vincent Marion
- Olivier Poch
- Uwe Strahle
- Corinne Stoetzel
- Hélène Dollfus
American Journal of Human Genetics ; Volume: 89 ; Page: 773-781
Article in a journal
Clinical utility gene card for: hypophosphatasia
- Etienne Mornet
- Christine Beck
- Agnès Bloch-Zupan
- Hermann Girschick
- Martine Le Merrer
European Journal of Human Genetics ; Volume: 19 ; Page: 4--5