Salima El Chehadeh
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Explore the profile of Salima El Chehadeh including associated specialties, affiliations and a list of published articles.
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Citations
687
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Recent Articles
11.
Faivre L, Crepin J, Reda M, Nambot S, Carmignac V, Abadie C, et al.
Clin Genet
. 2023 Aug;
104(5):554-563.
PMID: 37580112
The PIK3CA-related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated...
12.
Janin A, Gouy E, Putoux A, Perouse-de-Monclos T, Chevalier P, Faucherre A, et al.
Circ Genom Precis Med
. 2023 Apr;
16(3):277-279.
PMID: 37013823
No abstract available.
13.
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, et al.
Front Cell Dev Biol
. 2023 Mar;
11:1021920.
PMID: 36926521
Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM (Online...
14.
Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, et al.
Front Cell Dev Biol
. 2022 Dec;
10:1019715.
PMID: 36568968
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on...
15.
Palmer E, Pusch M, Picollo A, Forwood C, Nguyen M, Suckow V, et al.
Mol Psychiatry
. 2022 Nov;
28(2):668-697.
PMID: 36385166
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype...
16.
Gottschalk I, Kolsch U, Wagner D, Kath J, Martini S, Kruger R, et al.
J Clin Immunol
. 2022 Nov;
43(2):421-439.
PMID: 36319802
Purpose: Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections are the most common cause...
17.
Cali E, Lin S, Rocca C, Al Shamsi A, El Chehadeh S, Chaabouni M, et al.
Genet Med
. 2022 Aug;
24(10):2194-2203.
PMID: 36001086
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this...
18.
El Chehadeh S, Han K, Kim D, Jang G, Bakhtiari S, Lim D, et al.
Nat Commun
. 2022 Jul;
13(1):4112.
PMID: 35840571
SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and...
19.
Maillard P, Baer S, Schaefer E, Desnous B, Villeneuve N, Lepine A, et al.
Epilepsia
. 2022 Jun;
63(10):2519-2533.
PMID: 35718920
Objective: γ-Aminobutyric acid (GABA) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common...
20.
Bourgon N, Garde A, Bruel A, Lefebvre M, Mau-Them F, Moutton S, et al.
Eur J Hum Genet
. 2022 May;
30(8):967-975.
PMID: 35577939
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype...