C Vincent-Delorme
Overview
Explore the profile of C Vincent-Delorme including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
545
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0
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Recent Articles
1.
Boussion S, Lyonnet S, Van Der Zwaag B, Vogel M, Smol T, Mezel A, et al.
Eur J Med Genet
. 2020 Jan;
63(4):103839.
PMID: 31923588
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to...
2.
Smirnov V, Dhaenens C, Vincent-Delorme C, Defoort-Dhellemmes S
J Fr Ophtalmol
. 2019 Mar;
42(3):332-333.
PMID: 30850196
No abstract available.
3.
Baer S, Afenjar A, Smol T, Piton A, Gerard B, Alembik Y, et al.
Clin Genet
. 2018 Mar;
94(1):141-152.
PMID: 29574747
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene...
4.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh S, et al.
Clin Genet
. 2015 Nov;
89(5):630-5.
PMID: 26582393
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a...
5.
Hu H, Haas S, Chelly J, Van Esch H, Raynaud M, de Brouwer A, et al.
Mol Psychiatry
. 2015 Feb;
21(1):133-48.
PMID: 25644381
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number...
6.
Molin A, Andrieux J, Koolen D, Malan V, Carella M, Colleaux L, et al.
J Med Genet
. 2011 Dec;
49(2):104-9.
PMID: 22180640
Background: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the...
7.
Mosca-Boidron A, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, et al.
Clin Genet
. 2011 Jul;
82(1):41-7.
PMID: 21722100
Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the...
8.
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, Francois G, et al.
Mol Syndromol
. 2010 Nov;
1(2):67-74.
PMID: 21045959
Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated...
9.
Walters R, Jacquemont S, Valsesia A, de Smith A, Martinet D, Andersson J, et al.
Nature
. 2010 Feb;
463(7281):671-5.
PMID: 20130649
Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs)...
10.
Chol M, Lebon S, Benit P, Chretien D, de Lonlay P, Goldenberg A, et al.
J Med Genet
. 2003 Mar;
40(3):188-91.
PMID: 12624137
Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been...