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- Claire S. Leblond, Caroline Nava, +57 authors Thomas Bourgeron
- PLoS genetics
- 2014
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of… (More)
- D. Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
- Orphanet journal of rare diseases
- 2009
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient… (More)
- Nausica Arnoult, Caroline Schluth-Bolard, +9 authors Arturo Londoño-Vallejo
- PLoS genetics
- 2010
The mechanisms governing telomere replication in humans are still poorly understood. To fill this gap, we investigated the timing of replication of single telomeres in human cells. Using in situ… (More)
Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently… (More)
- Alexandre Ottaviani, Caroline Schluth-Bolard, +9 authors Frédérique Magdinier
- The EMBO journal
- 2009
The localization of genes within the nuclear space is of paramount importance for proper genome functions. However, very little is known on the cis-acting elements determining subnuclear positioning… (More)
- Caroline Schluth-Bolard, Bruno Delobel, +19 authors Joris Loup Andrieux
- European journal of medical genetics
- 2009
Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected… (More)
- Irmina Diala, Nicole Wagner, +14 authors Eric Gilson
- EMBO reports
- 2013
The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/β-catenin signalling pathway in human… (More)
- Caroline Schluth-Bolard, A. Labalme, +10 authors D. Sanlaville
- Journal of medical genetics
- 2013
BACKGROUND
Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances or to the disruption of genes… (More)
- Caroline Schluth-Bolard, Marianne Till, +9 authors D. Sanlaville
- European journal of medical genetics
- 2008
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by… (More)
- Heleen Masset, Matthew S. Hestand, +7 authors Joris Robert Vermeesch
- Human mutation
- 2016
Chromoanagenesis is the process by which a single catastrophic event creates complex rearrangements confined to a single or a few chromosomes. It is usually characterized by the presence of multiple… (More)