Adeline Alice Bonnard
Overview
Explore the profile of Adeline Alice Bonnard including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
4
Citations
23
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Dentici M, Niceta M, Lepri F, Mancini C, Priolo M, Bonnard A, et al.
Eur J Hum Genet
. 2024 Jun;
32(8):954-963.
PMID: 38824261
Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and...
2.
Chevrollier A, Bonnard A, Ruaud L, Gueguen N, Perrin L, Desquiret-Dumas V, et al.
Brain
. 2023 Oct;
147(1):91-99.
PMID: 37804319
Pathogenic variants in the MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with possible involvement of the CNS. Here, we present a case of...
3.
Galderisi A, Kermorvant-Duchemin E, Daruich A, Bonnard A, Lapillonne A, Aubelle M, et al.
JIMD Rep
. 2023 Mar;
64(2):161-166.
PMID: 36873092
Early treatment of neonatal diabetes with sulfonylureas has been proven to produce marked improvements of neurodevelopment, beside the demonstrated efficacy on glycemic control. Several barriers still prevent an early treatment...
4.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard A, Simsek-Kiper P, et al.
Am J Hum Genet
. 2021 Oct;
108(11):2112-2129.
PMID: 34626534
Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK) cascade is the unifying mechanistic theme of the RASopathies, a family of disorders affecting development and growth. Pathogenic variants...