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Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Lebrun N, Giurgea I, Goldenberg A, Dieux A, Afenjar A, Ghoumid J, Diebold B, Mietton L, Briand-Suleau A, Billuart P, Bienvenu T. Lebrun N, et al. Among authors: diebold b. Eur J Hum Genet. 2018 Jan;26(1):107-116. doi: 10.1038/s41431-017-0033-y. Epub 2017 Dec 4. Eur J Hum Genet. 2018. PMID: 29203834 Free PMC article.
Mutations in the C-terminus of CDKL5: proceed with caution.
Diebold B, Delépine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T. Diebold B, et al. Eur J Hum Genet. 2014 Feb;22(2):270-2. doi: 10.1038/ejhg.2013.133. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756444 Free PMC article.
Somatic mosaicism for a FOXG1 mutation: diagnostic implication.
Diebold B, Délepine C, Nectoux J, Bahi-Buisson N, Parent P, Bienvenu T. Diebold B, et al. Clin Genet. 2014 Jun;85(6):589-91. doi: 10.1111/cge.12212. Epub 2013 Jun 24. Clin Genet. 2014. PMID: 24766421 No abstract available.
Refining the phenotype associated with MEF2C point mutations.
Bienvenu T, Diebold B, Chelly J, Isidor B. Bienvenu T, et al. Among authors: diebold b. Neurogenetics. 2013 Feb;14(1):71-5. doi: 10.1007/s10048-012-0344-7. Epub 2012 Sep 23. Neurogenetics. 2013. PMID: 23001426
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T. Bahi-Buisson N, et al. Among authors: diebold b. Am J Med Genet A. 2012 Jul;158A(7):1612-9. doi: 10.1002/ajmg.a.35401. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678952
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T. Le Guen T, et al. Among authors: diebold b. Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Neurogenetics. 2011. PMID: 20734096 Review.
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S. Terrone G, et al. Among authors: diebold b. Epilepsia. 2014 Nov;55(11):e116-9. doi: 10.1111/epi.12800. Epub 2014 Sep 29. Epilepsia. 2014. PMID: 25266269 Free article.
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C. Lambert L, et al. Among authors: diebold b. Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. Clin Genet. 2012. PMID: 22449245 No abstract available.
153 results