C Dubourg
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Explore the profile of C Dubourg including associated specialties, affiliations and a list of published articles.
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28
Citations
463
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Recent Articles
1.
van der Sluijs P, Gosgens M, Dingemans A, Striano P, Riva A, Mignot C, et al.
Genet Med Open
. 2024 Dec;
2():101873.
PMID: 39669611
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the...
2.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, et al.
Eur J Med Genet
. 2023 Mar;
66(6):104748.
PMID: 36948288
Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical,...
3.
Bruel A, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, et al.
Clin Genet
. 2018 Mar;
94(1):182-184.
PMID: 29498412
No abstract available.
4.
Cherot E, Keren B, Dubourg C, Carre W, Fradin M, Lavillaureix A, et al.
Clin Genet
. 2017 Jul;
93(3):567-576.
PMID: 28708303
Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical...
5.
Mouden C, Dubourg C, Carre W, Rose S, Quelin C, Akloul L, et al.
Clin Genet
. 2016 Jan;
89(6):659-68.
PMID: 26748417
Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been associated with HPE and are...
6.
Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, et al.
Mol Syndromol
. 2014 Apr;
5(2):57-64.
PMID: 24715852
Smith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep disturbance, self-injurious behaviors and dysmorphic features. It is estimated to occur in 1/25,000 births, and in 90% of cases it...
7.
Demurger F, Pasquier L, Dubourg C, Dupe V, Gicquel I, Evain C, et al.
Mol Syndromol
. 2013 Oct;
4(6):267-72.
PMID: 24167461
Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The embryologic and genetic mechanisms involved are still unknown, and to date,...
8.
Masurel-Paulet A, Andrieux J, Callier P, Cuisset J, Le Caignec C, Holder M, et al.
Clin Genet
. 2010 Mar;
78(2):149-61.
PMID: 20236110
The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition...
9.
Patard J, Rioux-Leclercq N, Masson D, Zerrouki S, Jouan F, Collet N, et al.
Br J Cancer
. 2009 Sep;
101(8):1417-24.
PMID: 19755989
Background: The von Hippel-Lindau gene (VHL) alteration, a common event in sporadic clear-cell renal-cell carcinoma (CCRCC), leads to highly vascularised tumours. Vascular endothelial growth factor (VEGF) is the major factor...
10.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, et al.
J Med Genet
. 2009 Jul;
47(1):22-9.
PMID: 19592390
Background: Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. Method: Molecular karyotyping of...