Cedric Le Marechal
Overview
Explore the profile of Cedric Le Marechal including associated specialties, affiliations and a list of published articles.
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Articles
69
Citations
892
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Recent Articles
1.
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, et al.
Med Sci (Paris)
. 2024 Oct;
40(10):767-769.
PMID: 39450962
No abstract available.
2.
Jonchere V, Montemont H, Le Scanf E, Siret A, Letourneur Q, Tubacher E, et al.
Genome Biol
. 2024 Aug;
25(1):210.
PMID: 39107855
Background: Microsatellite instability (MSI) due to mismatch repair deficiency (dMMR) is common in colorectal cancer (CRC). These cancers are associated with somatic coding events, but the noncoding pathophysiological impact of...
3.
Uguen K, Redon S, Rouault K, Pensec M, Benech C, Schutz S, et al.
Am J Med Genet A
. 2024 Jan;
194(5):e63532.
PMID: 38192009
Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder caused by biallelic mutations in the MAN2B1 gene and characterized by a wide clinical heterogeneity. Diagnosis for this multisystemic disorder is...
4.
Corcos L, Le Scanf E, Quere G, Arzur D, Cueff G, Le Jossic-Corcos C, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833239
Cancers that belong to the microsatellite instability (MSI) class can account for up to 15% of all cancers of the digestive tract. These cancers are characterized by inactivation, through the...
5.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, et al.
Clin Genet
. 2022 Nov;
103(3):377-379.
PMID: 36444497
No abstract available.
6.
Ganapathi M, Friocourt G, Gueguen N, Friederich M, Le Gac G, Okur V, et al.
J Inherit Metab Dis
. 2022 May;
45(5):996-1012.
PMID: 35621276
Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian...
7.
Restivo C, Le Bras M, Deguigne P, Le Glatin L, Guerry C, Ferec C, et al.
Transfusion
. 2022 Jan;
62(4):758-763.
PMID: 35098548
Background: In the RH blood group genes, molecular variants that alter antigen expression with potential clinical relevance are frequently identified and reported in the literature. Study Design And Methods: A...
8.
Le Nabec A, Collobert M, Le Marechal C, Marianowski R, Ferec C, Moisan S
Genes (Basel)
. 2021 Aug;
12(8).
PMID: 34440441
Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the gene are responsible for up to 30% of non-syndromic hearing loss....
9.
Padhi E, Hayeck T, Cheng Z, Chatterjee S, Mannion B, Byrska-Bishop M, et al.
Hum Genomics
. 2021 Jul;
15(1):44.
PMID: 34256850
Background: Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo...
10.
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, et al.
Clin Genet
. 2021 Jun;
100(4):386-395.
PMID: 34164801
13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it....