Vincent Michaud
Overview
Explore the profile of Vincent Michaud 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
52
Citations
635
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Rateaux M, Hadj-Rabia S, Barrois R, Zambrowski O, Michaud V, Moreno-Artero E, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):44.
PMID: 39951296
Purpose: Albinism is a genetic disorder characterized by a defect in melanin biosynthesis. Ophthalmological and dermatological impairments vary according to the patient genotype and are highly heterogenous. Recently, variants in...
2.
Courdier C, Michaud V, Diallo M, Plaisant C, Lasseaux E, Helot I, et al.
Eur J Hum Genet
. 2025 Jan;
33(3):383-386.
PMID: 39809949
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+...
3.
Jolitz L, Helbig I, Fitzgerald M, McKeown Ruggiero S, Cohen S, Angelini C, et al.
Ann Neurol
. 2025 Jan;
97(3):561-570.
PMID: 39749750
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited....
4.
Courdier C, Dhaenens C, Grunewald O, Guerrot A, Audo I, Lecleire-Collet A, et al.
Ophthalmic Genet
. 2024 Nov;
:1-8.
PMID: 39610034
Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher...
5.
Diallo M, Defay-Stinat A, Gindensperger V, Sequeira A, Trimouille A, Javerzat S, et al.
Gene
. 2024 Nov;
935:149079.
PMID: 39510327
Oculocutaneous albinism type 1 is caused by variants in the TYR (tyrosinase) gene. We describe a family with two affected sibs who inherited the pathogenic missense TYR variant c.1146C > ...
6.
Green D, Michaud V, Lasseaux E, Plaisant C, Fitzgerald T, Birney E, et al.
Nat Commun
. 2024 Sep;
15(1):8436.
PMID: 39349469
Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations...
7.
Saettini F, Guerra F, Mauri M, Salter C, Adam M, Adams D, et al.
J Clin Immunol
. 2024 Sep;
45(1):15.
PMID: 39312004
Purpose: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia)...
8.
Diallo M, Courdier C, Mercier E, Sequeira A, Defay-Stinat A, Plaisant C, et al.
Int J Mol Sci
. 2024 Aug;
25(16).
PMID: 39201349
Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic...
9.
Smirnov V, Lasseaux E, Michaud V, Courdier C, Meunier I, Arveiler B, et al.
Doc Ophthalmol
. 2024 Jun;
149(1):47-52.
PMID: 38922562
Introduction: Infantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR...
10.
Cuinat S, Quelin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour A, et al.
J Med Genet
. 2024 Jun;
61(9):824-832.
PMID: 38849204
Introduction: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. Method: After the antenatal...