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L Colleaux

Explore the profile of L Colleaux including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 51
Citations 1415
Followers 0
Related Specialties
Genetics
Molecular Biology
Biochemistry
Top 10 Co-Authors
A Munnich
V Cormier-Daire
M Fontes
M Vekemans
M Rio
M PRIEUR
B Dujon
D Sanlaville
C Turleau
L Villard
Published In
J Med Genet
Clin Genet
Hum Mol Genet
Mamm Genome
Eur J Hum Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
Leroy C, Jacquemont M, Doray B, Lamblin D, Cormier-Daire V, Philippe A, et al.
Clin Genet . 2015 Feb; 89(1):68-73. PMID: 25677961
The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected...
2.
A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency
Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, et al.
Eur J Med Genet . 2013 Oct; 56(12):683-5. PMID: 24095819
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in...
3.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
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...
4.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, et al.
J Med Genet . 2010 Jun; 47(6):377-84. PMID: 20522426
BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microduplication syndromes. METHODS Owing to...
5.
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, et al.
Clin Genet . 2009 Sep; 76(2):188-94. PMID: 19780765
Neonatal epileptic encephalopathies with suppression bursts (SBs) are very severe and relatively rare diseases characterized by neonatal onset of seizures, interictal electroencephalogram (EEG) with SB pattern and very poor neurological...
6.
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, et al.
J Med Genet . 2009 Aug; 47(12):797-802. PMID: 19643772
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short...
7.
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation
Malan V, Raoul O, Firth H, Royer G, Turleau C, Bernheim A, et al.
J Med Genet . 2009 Jan; 46(9):635-40. PMID: 19126570
Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a...
8.
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
Jacquemont M, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, et al.
J Med Genet . 2006 Jul; 43(11):843-9. PMID: 16840569
Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions,...
9.
[Microarray CGH: principle and use for constitutional disorders]
Sanlaville D, Lapierre J, Coquin A, Turleau C, Vermeesch J, Colleaux L, et al.
Arch Pediatr . 2005 Sep; 12(10):1515-20. PMID: 16153813
Chips technology has allowed to miniaturize process making possible to realize in one step and using the same device a lot of chemical reactions. The application of this technology to...
10.
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation
Philip N, Colleaux L, Sigaudy S, Attie-Bitach T, Missirian C, Moncla A, et al.
Am J Med Genet A . 2005 Feb; 134A(1):39-44. PMID: 15732060
We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or...