Publications by authors named "Bertrand Diebold"

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Involvement of the brain orexin system in a familial form of anorexia nervosa.
Camille Verebi, Nicolas Lebrun, Philibert Duriez, Bertrand Diebold, Natacha Gaitch

World J Biol Psychiatry· October 2025

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Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Nicolas Lebrun, Irina Giurgea, Alice Goldenberg, Anne Dieux, Alexandra Afenjar, Bertrand Diebold

Eur J Hum Genet· January 2018

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A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
Gaetano Terrone, Thierry Bienvenu, David Germanaud, Marie-Anne Barthez-Carpentier, Bertrand Diebold

Epilepsia· November 2014

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Mutations in the C-terminus of CDKL5: proceed with caution.
Bertrand Diebold, Chloé Delépine, Svetlana Gataullina, Andrée Delahaye, Juliette Nectoux

Eur J Hum Genet· February 2014

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Refining the phenotype associated with MEF2C point mutations.
Thierry Bienvenu, Bertrand Diebold, Jamel Chelly, Bertrand Isidor

Neurogenetics· February 2013

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Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Laure Raymond, Bertrand Diebold, Céline Leroux, Hélène Maurey, Valérie Drouin-Garraud

Gene· January 2013

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Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Helene Maurey, Bertrand Diebold

Am J Med Genet A· July 2012

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A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, Nathalie Boddaert, Yann Fichou, Bertrand Diebold

Neurogenetics· February 2011

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A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
Tangui Le Guen, Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, François Rivier, Bertrand Diebold

Hum Mutat· February 2011

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