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Page 1
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. Tusseau M, et al. Among authors: lesca g. J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. J Clin Immunol. 2022. PMID: 35670985
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: lesca g. J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315544
The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.
Houdayer F, Gargiulo M, Frischmann M, Labalme A, Decullier E, Cordier MP, Dupuis-Girod S, Lesca G, Till M, Sanlaville D, Edery P, Rossi M. Houdayer F, et al. Among authors: lesca g. Eur J Med Genet. 2013 Nov;56(11):585-90. doi: 10.1016/j.ejmg.2013.09.002. Epub 2013 Sep 17. Eur J Med Genet. 2013. PMID: 24055527
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Chatron N, Lesca G, Labalme A, Rollat-Farnier PA, Monin P, Pichot E, Edery P, Sanlaville D, Rossi M. Chatron N, et al. Among authors: lesca g. Clin Genet. 2017 Jul;92(1):112-114. doi: 10.1111/cge.12907. Epub 2017 Jan 16. Clin Genet. 2017. PMID: 28090630 No abstract available.
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G. Mathieu ML, et al. Among authors: lesca g. Eur J Paediatr Neurol. 2018 Nov;22(6):1124-1132. doi: 10.1016/j.ejpn.2018.07.004. Epub 2018 Jul 21. Eur J Paediatr Neurol. 2018. PMID: 30126759
320 results