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
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
-
-
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
-
-
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
-