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
2012
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
2010
Article in a journal
Delayed Osteoprogenitor Differentiation in Cleft-Palate Models
- P. Pungchanchaikul
- Agnès Bloch-Zupan
- P. Ferretti
Cells Tissues Organs ; Volume: 192 ; Page: 283-291
Article in a journal
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
- Vincent Laugel
- Cécile Dalloz
- M. Durand
- Florence Sauvanaud
- Hans-Ulrik Kristensen
- Marie-Claire Vincent
- Laurent Pasquier
- Sylvie Odent
- Valérie Cormier-Daire
- Blanca Gener
- Edward Spencer Tobias
- John Lorimer Tolmie
- Dominique Martin-Coignard
- Valérie Drouin-Garraud
- Delphine Heron
- Hubert Journel
- Emmanuel Raffo
- Jaqueline Vigneron
- Stanislas Lyonnet
- Victoria Alice Murday
- ...
Human Mutation ; Volume: 31 ; Page: 113-26
2009
Article in a journal
Lipids in predentine and dentine
- M Goldberg
- D Septier
- S Lécolle
- L Vermelin
- P Bissila-Mapahou
- J P Carreau
- A Gritli
- Agnès Bloch-Zupan
Connective Tissue Research ; Volume: 33 ; Page: 105-114
Article in a journal
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
- David Parry
- Alan J. Mighell
- Walid El-Sayed
- Roger C. Shore
- Ismail K. Jalili
- Hélène Dollfus
- Agnes Bloch-Zupan
- Roman Carlos
- Ian M. Carr
- Louise M. Downey
- Katharine M. Blain
- David C. Mansfield
- Mehdi Shahrabi
- Mansour Heidari
- Parissa Aref
- Mohsen Abbasi
- Michel Michaelides
- Anthony T. Moore
- Jennifer Kirkham
- Chris F. Inglehearn
American Journal of Human Genetics ; Volume: 84 ; Page: 266-73
Article in a journal
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
- Amélie Reibel
- Marie-Cécile Manière
- François Clauss
- Dominique Droz
- Yves Alembik
- Etienne Mornet
- Agnès Bloch-Zupan
Orphanet Journal of Rare Diseases ; Volume: 4 ; Page: 6
2007
Article in a journal
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
- Cheryl y Gregory-Evans
- Mariya Moosajee
- Matthew D Hodges
- Donna S Mackay
- Laurence Game
- Neil Vargesson
- Agnès Bloch-Zupan
- Franz Rüschendorf
- Lourdes Santos-Pinto
- Georges Wackens
- Kevin Gregory-Evans
Human Molecular Genetics ; Volume: 16 ; Page: 3482-93
Article in a journal
When neuropediatrics meets odontology.
- Agnès Bloch-Zupan
Neuropediatrics ; Volume: 38 ; Page: 57-8