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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2015
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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.
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2014
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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
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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
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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
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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
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2013
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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
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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
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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
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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
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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
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