Stephanie Valence
Overview
Explore the profile of Stephanie Valence including associated specialties, affiliations and a list of published articles.
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Articles
37
Citations
920
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Recent Articles
1.
Jaillard A, Valence S, Vande Perre S, Dhombres F, Heron D, de Villemeur T, et al.
Prenat Diagn
. 2024 Jan;
44(1):35-48.
PMID: 38165124
Objective: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). Method: This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated...
2.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, et al.
J Med Genet
. 2023 Oct;
61(2):103-108.
PMID: 37879892
The Aristaless-related homeobox () gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of -related disorders is...
3.
Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, et al.
J Med Genet
. 2023 Oct;
61(3):244-249.
PMID: 37857482
Background: The neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous...
4.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, et al.
Am J Hum Genet
. 2023 Jul;
110(8):1356-1376.
PMID: 37421948
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying...
5.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1023-1031.
PMID: 37344571
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals...
6.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, et al.
Eur J Med Genet
. 2023 Jun;
66(8):104797.
PMID: 37285932
The SMARCC1 gene has been involved in congenital ventriculomegaly with aqueduct stenosis but only a few patients have been reported so far, with no antenatal cases, and it is currently...
7.
Nguyen T, Heide S, Guilbaud L, Valence S, Vande Perre S, Blondiaux E, et al.
Prenat Diagn
. 2023 May;
43(6):746-755.
PMID: 37173814
Objective: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to compare imaging phenotype and genotype findings. Method:...
8.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, et al.
Elife
. 2023 Jan;
12.
PMID: 36648066
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in were identified in individuals with...
9.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, et al.
J Med Genet
. 2022 Nov;
60(6):578-586.
PMID: 36319078
Purpose: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative...
10.
Chanclud J, Valence S, Vande Perre S, Guilbaud L, Moutard M, Jouannic J, et al.
Pediatr Radiol
. 2022 Oct;
53(3):461-469.
PMID: 36274068
Background: Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally. Objectives:...