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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2023
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Article in a journal
Primary failure of eruption: From molecular diagnosis to therapeutic management
- Delphine Wagner
- Tristan Rey
- Marie Cecile Maniere
- Sarah Dubourg
- Agnès Bloch-Zupan
- Marion Strub
Journal of Oral Biology and Craniofacial Research ; Volume: 13 ; Page: 169-176
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Article in a journal
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome
- Florent Colin
- Pauline Burger
- Timothée Mazzucotelli
- Axelle Strehle
- Joost Kummeling
- Nicole Collot
- Elyette Broly
- Angela T. Morgan
- Kenneth A. Myers
- Agnès Bloch-Zupan
- Charlotte W. Ockeloen
- Bert B.A. de Vries
- Tjitske Kleefstra
- Pierre Parrend
- David A. Koolen
- Jean-Louis Mandel
Genetics in Medicine Open ; Volume: 1 ; Page: 100817
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2021
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Article in a journal
Robert Frank: A Pioneer and Visionary Scientist in Oral Medicine
- Corinne Taddei-Gross
- Anne-Marie Musset
- Youssef Haikel
- Agnès Bloch
Journal of Dental Research ; Volume: 100 ; Page: 1309-1312
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Article in a journal
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
- Bradley Bowles
- Alejandro Ferrer
- Carla J. Nishimura
- Filippo Pinto E. Vairo
- Tristan Rey
- Bruno Leheup
- Jennifer Sullivan
- Kelly Schoch
- Nicholas Stong
- Emanuele Agolini
- Dario Cocciadiferro
- Abigail Williams
- Alex Cummings
- Sara Loddo
- Silvia Genovese
- Chelsea Roadhouse
- Kirsty Mcwalter
- Chumei Li
- Dusica Babovic-Vuksanovic
- Brendan C. Lanpher
- ...
Am J Med Genet A ; Volume: 185 ; Page: 2417-2433
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Article in a journal
Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype
- Salima El Chehadeh
- Anne Legrand
- Corinne Stoetzel
- Véronique Geoffroy
- Clarisse Billon
- Salma Adham
- Xavier Jeunemaître
- Roland Jaussaud
- Jean Muller
- Elise Schaefer
- Karelle Benistan
- Sébastien Gaertner
- Agnès Bloch‐zupan
- Aymeric Courval
- Marie‐cécile Manière
- Catherine Petit
- Anne‐claire Bursztejn
- Laurence Bal
- Anthony Reyre
- Agathe Chammas
- ...
Clinical Genetics ; Volume: 100 ; Page: 206-212
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Article in a journal
COVID-19 and Dentistry in 72 Questions: An Overview of the Literature
- Stéphane Derruau
- Jerome Bouchet
- Ali Nassif
- Alexandre Baudet
- Kazutoyo Yasukawa
- Sandrine Lorimier
- Isabelle Prêcheur
- Agnès Bloch-Zupan
- Bernard Pellat
- Hélène Chardin
- Sophie Jung
Journal of Clinical Medicine ; Volume: 10 ; Page: 779
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2020
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Chapter of the book
Heimler Syndrome
- S. Mechaussier
- I. Perrault
- H. Dollfus
- A. Bloch-Zupan
- N. Loundon
- L. Jonard
- S. Marlin
Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases ; Volume: 1299 ; Page: 81-87
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Article in a journal
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
- Felix Kunz
- Hülya Kayserili
- Alina Midro
- Deepthi de Silva
- Sriyani Basnayake
- Yeliz Güven
- Jan Borys
- Denny Schanze
- Angelika Stellzig-Eisenhauer
- Agnès Bloch-Zupan
- Martin Zenker
American Journal of Medical Genetics Part A ; Volume: 182 ; Page: 1681-1689
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Article in a journal
Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss
- Supawich Morkmued
- François Clauss
- Brigitte Schuhbaur
- Valerie Fraulob
- Eric Mathieu
- Joseph Hemmerlé
- Hans Clevers
- Bon-Kyoung Koo
- Pascal Dollé
- Agnès Bloch-Zupan
- Karen Niederreither
Scientific Reports ; Volume: 10 ; Page: 14817
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2019
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Article in a journal
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders
- Muriel Dure‐molla
- Benjamin Philippe Fournier
- Maria Cristina Manzanares
- Ana Carolina Acevedo
- Raoul C. Hennekam
- Lisa Friedlander
- Marie‐laure Boy‐lefèvre
- Stephane Kerner
- Steve Toupenay
- Pascal Garrec
- Brigite Vi‐fane
- Rufino Felizardo
- Marie‐violaine Berteretche
- Laurence Jordan
- François Ferré
- François Clauss
- Sophie Jung
- Myriam Chalendar
- Sebastien Troester
- Marzena Kawczynski
- ...
American Journal of Medical Genetics Part A ; Volume: 179 ; Page: 1913-1981
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