Benoit Arveiler
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Explore the profile of Benoit Arveiler including associated specialties, affiliations and a list of published articles.
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110
Citations
1681
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Recent Articles
1.
Fournier H, Pillaud N, Morice-Picard F, Hadj-Rabia S, Arveiler B, Quintard B
Soc Sci Med
. 2025 Jan;
367:117684.
PMID: 39884087
Background: Limited standardized empirical research exists in France on the psychosocial implications of albinism, prompting an investigation into how affected persons adapt to their disabilities. Recent advancements in health psychology...
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.
Margot H, Poblete N, Angelini C, Desforges J, Bouron J, Arveiler B, et al.
J Med Genet
. 2025 Jan;
PMID: 39779312
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This...
4.
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 > ...
5.
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...
6.
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...
7.
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...
8.
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...
9.
Diallo M, Sylla O, Sidibe M, Plaisant C, Mercier E, Sequeira A, et al.
Pigment Cell Melanoma Res
. 2024 May;
37(6):752-761.
PMID: 38720644
Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been...
10.
Fournier H, Hasdenteufel M, Garrouteigt C, Perie M, Gliksohn A, Jouanne B, et al.
BMC Med
. 2024 Jan;
22(1):40.
PMID: 38281904
Background: To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better...