Valerie Pelletier
Overview
Explore the profile of Valerie Pelletier 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
29
Citations
496
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Vega Ocasio D, Juin S, Berendes D, Heitzinger K, Prentice-Mott G, Desormeaux A, et al.
MMWR Morb Mortal Wkly Rep
. 2023 Jan;
72(2):21-25.
PMID: 36634024
On September 30, 2022, after >3 years with no confirmed cholera cases (1), the Directorate of Epidemiology, Laboratories and Research (DELR) of the Haitian Ministry of Public Health and Population...
2.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, des Roziers C, Coustier A, et al.
Hum Genet
. 2022 Aug;
142(1):1-9.
PMID: 35941319
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but highly variable expressivity. In most patients, Next Generation Sequencing (NGS) technologies allow the identification of a loss-of-function...
3.
Poncet A, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, et al.
Int J Mol Sci
. 2022 Apr;
23(8).
PMID: 35457110
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic...
4.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier C, Devos A, et al.
Int J Mol Sci
. 2021 Jul;
22(12).
PMID: 34203883
Variants of the gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few patients...
5.
Mauring L, Porter L, Pelletier V, Riehm A, Leuvrey A, Gouronc A, et al.
Front Genet
. 2020 Sep;
11:938.
PMID: 32973878
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in . Phenotypic variability is well-documented, particularly for the systemic...
6.
Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, et al.
EMBO Mol Med
. 2020 Jun;
12(7):e11861.
PMID: 32500975
The ubiquitin-proteasome system degrades ubiquitin-modified proteins to maintain protein homeostasis and to control signalling. Whole-genome sequencing of patients with severe deafness and early-onset cataracts as part of a neurological, sensorial...
7.
Scheidecker S, Bar S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, et al.
Hum Mutat
. 2019 May;
40(10):1826-1840.
PMID: 31116475
Mutations in genes encoding aminoacyl-tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl-tRNA synthetase and its cytosolic isoform belongs to the multiple aminoacyl-tRNA synthetase...
8.
Zeitz C, Michiels C, Neuille M, Friedburg C, Condroyer C, Boyard F, et al.
Hum Mutat
. 2019 Mar;
40(6):765-787.
PMID: 30825406
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50%...
9.
Jean Louis F, Buteau J, Francois K, Hulland E, Domercant J, Yang C, et al.
PLoS One
. 2018 Jan;
13(1):e0192077.
PMID: 29381736
Introduction: Viral load (VL) assessment is the preferred method for diagnosing and confirming virologic failure for patients on antiretroviral therapy (ART). We conducted a retrospective cross-sectional study to evaluate the...
10.
Auld A, Pelletier V, Robin E, Shiraishi R, Dee J, Antoine M, et al.
Am J Trop Med Hyg
. 2017 Oct;
97(4_Suppl):57-70.
PMID: 29064357
Monitoring retention of people living with HIV (PLHIV) in the HIV care and treatment cascade is essential to guide program strategy and evaluate progress toward globally-endorsed 90-90-90 targets (i.e., 90%...