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European Journal of Human Genetics (4)
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Showing 1–8 of 8 results

Advanced filters: Author: Pierre Billuart Clear advanced filters

Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families

Martine Raynaud
Marie-Pierre Moizard
Claude Moraine
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 253-258
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

This study describes how the circadian clock and regulators of synaptic activity influence each other by identifying the ways in which oligophrenin-1 (a regulator of dendritic spine morphology) and Rev-erbA (a nuclear factor regulating circadian rhythms) interact.

Pamela Valnegri
Malik Khelfaoui
Maria Passafaro
Research28 Aug 2011
Nature Neuroscience

Volume: 14, P: 1293-1301
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Pierre Billuart
Thierry Bienvenu
Jamel Chelly
Research30 Apr 1998
Nature

Volume: 392, P: 923-926
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Ramzi Zemni
Thierry Bienvenu
Jamel Chelly
Research01 Feb 2000
Nature Genetics

Volume: 24, P: 167-170
Loss of Function of KCNC1 is associated with intellectual disability without seizures

Karine Poirier
Géraldine Viot
Thierry Bienvenu
Research01 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 560-564
Mapping of the X-Breakpoint Involved in a Balanced X;12 Translocation in a Female with Mild Mental Retardation

Thierry Bienvenu
Hera Der-Sarkissian
Dorra Cherif
Research01 Mar 1997
European Journal of Human Genetics

Volume: 5, P: 105-109
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

Nicolas Lebrun
Irina Giurgea
Thierry Bienvenu
Research04 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 107-116
Emerging major synaptic signaling pathways involved in intellectual disability

A Pavlowsky
J Chelly
P Billuart
Reviews25 Oct 2011
Molecular Psychiatry

Volume: 17, P: 682-693