Salima El Chehadeh
Overview
Explore the profile of Salima El Chehadeh 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
61
Citations
687
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.
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet
. 2025 Jan;
PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
2.
Ader F, Derridj N, Brehin A, Domanski O, Baudelet J, Gras P, et al.
Int J Cardiol
. 2024 Nov;
419:132729.
PMID: 39549770
Background: There are limited data that can explain the earlier penetrance and the different expressivity of pediatric cardiomyopathy (pCM) compared to adult-onset cardiomyopathy (aCM). In addition, the relationship between genotype...
3.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, et al.
Calcif Tissue Int
. 2024 Sep;
115(5):591-598.
PMID: 39316135
Osteoporosis is a skeletal disorder characterized by abnormal bone microarchitecture and low bone mineral density (BMD), responsible for an increased risk of fractures and skeletal fragility. It is a common...
4.
Baer S, Schalk A, Miguet M, Schaefer E, El Chehadeh S, Ginglinger E, et al.
Pediatr Neurol
. 2024 Aug;
159:16-25.
PMID: 39094250
Background: Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients....
5.
Arnaud P, Mougin Z, Baujat G, Drouin-Garraud V, El Chehadeh S, Gouya L, et al.
J Med Genet
. 2024 Mar;
61(5):469-476.
PMID: 38458756
Background: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as...
6.
Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, et al.
Clin Genet
. 2024 Feb;
106(1):90-94.
PMID: 38424388
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here,...
7.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem M, Nouioua S, et al.
Nat Genet
. 2023 Nov;
55(11):1929-1940.
PMID: 37919452
Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in...
8.
Husson T, Lecoquierre F, Nicolas G, Richard A, Afenjar A, Audebert-Bellanger S, et al.
Eur J Hum Genet
. 2023 Oct;
32(2):190-199.
PMID: 37872275
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised...
9.
Lanvin P, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, et al.
Am J Med Genet A
. 2023 Sep;
194(1):9-16.
PMID: 37740550
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low...
10.
Lancon A, Beaudouin A, Lambert L, Baurand A, Petit E, Schaefer E, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104841.
PMID: 37714374
Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In...