Veronique David
Overview
Explore the profile of Veronique David including associated specialties, affiliations and a list of published articles.
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65
Citations
1435
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Recent Articles
1.
Thomas H, Alix T, Renard E, Renaud M, Wourms J, Zuily S, et al.
J Med Genet
. 2024 Jun;
61(9):878-885.
PMID: 38937076
Background: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual...
2.
Guyodo H, Rizzo A, Diab F, Noury F, Mironov S, de Tayrac M, et al.
Clin Exp Dent Res
. 2024 Apr;
10(2):e861.
PMID: 38558491
Objectives: The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog (Shh), affects...
3.
Bouvet R, Verdier M, El Baroudi Y, Galibert M, David V, Schutz S, et al.
Int J Mol Sci
. 2020 Dec;
21(24).
PMID: 33348915
Regarding several cytotoxic agents, it was evidenced that genetic polymorphisms in genes encoding enzymes involved in their metabolism are associated with higher risk of toxicity. Genotyping these genes before treatment...
4.
Kim A, Le Douce J, Diab F, Ferovova M, Dubourg C, Odent S, et al.
Brain
. 2020 Jun;
143(7):2027-2038.
PMID: 32542401
Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and...
5.
Hamdi-Roze H, Ware M, Guyodo H, Rizzo A, Ratie L, Rupin M, et al.
J Clin Endocrinol Metab
. 2020 May;
105(9).
PMID: 32403133
Context: In human, Sonic hedgehog (SHH) haploinsufficiency is the predominant cause of holoprosencephaly, a structural malformation of the forebrain midline characterized by phenotypic heterogeneity and incomplete penetrance. The NOTCH signaling...
6.
Jacquinet A, Boujemla B, Fasquelle C, Thiry J, Josse C, Lumaka A, et al.
Clin Genet
. 2020 May;
98(2):126-137.
PMID: 32378186
Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being...
7.
Tron C, Woillard J, Houssel-Debry P, David V, Jezequel C, Rayar M, et al.
PLoS One
. 2020 Mar;
15(3):e0230195.
PMID: 32163483
Tacrolimus (TAC) is the cornerstone of immunosuppressive therapy in liver transplantation. This study aimed at elucidating the interplay between pharmacogenetic determinants of TAC whole blood and intracellular exposures as well...
8.
Beaumont M, Akloul L, Carre W, Quelin C, Journel H, Pasquier L, et al.
Hum Genet
. 2019 Mar;
138(4):363-374.
PMID: 30838450
Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not...
9.
Kim A, Savary C, Dubourg C, Carre W, Mouden C, Hamdi-Roze H, et al.
Brain
. 2018 Dec;
142(1):35-49.
PMID: 30508070
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels. Several genes have been implicated...
10.
Hamdi-Roze H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, et al.
Blood Cells Mol Dis
. 2018 Nov;
74:30-33.
PMID: 30389309
Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload...