B. Diebold

发表

A case of Lennox‐Gastaut syndrome in a patient with FOXG1‐related disorder

C. Delanoé, S. Auvin, D. Germanaud, 2014, Epilepsia.

A missense mutation within the fork‐head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

F. Rivier, N. Boddaert, J. Chelly, 2011, Human mutation.

Influences of lovastatin administration on the respiratory burst of leukocytes and the phosphorylation potential of mitochondria in guinea pigs.

N. Bhagavan, B. Diebold, R. J. Guillory, 1994, Biochimica et biophysica acta.

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

N. Boddaert, J. Chelly, J. Nectoux, 2011, neurogenetics.

Mutations in the C-terminus of CDKL5: proceed with caution

J. Nectoux, T. Bienvenu, B. Diebold, 2013, European Journal of Human Genetics.

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

F. Rivier, A. Toutain, V. Drouin‐Garraud, 2013, Gene.

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

H. Van Esch, G. Matthijs, T. Bienvenu, 2012, American journal of medical genetics. Part A.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

J. Nectoux, T. Bienvenu, N. Bahi-Buisson, 2014, Clinical genetics.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2012, neurogenetics.

MEF2C mutations are a rare cause of Rett or severe Rett‐like encephalopathies

B. Echenne, C. Philippe, P. Jonveaux, 2012, Clinical Genetics.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

A. Afenjar, P. Billuart, A. Briand-Suleau, 2017, European Journal of Human Genetics.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2013, neurogenetics.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

J. Nectoux, N. Bahi-Buisson, B. Diebold, 2014, Clinical genetics.