Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
ISSN: 1098-3600

hal-01134364
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134364
DOI : 10.1038/gim.2015.29
PUBMED : 25790162

Éditeur(s) : HAL CCSD
Résumé : Un dispositif expérimental a été élaboré pour effectuer l'étude systématiquue d'un écoulement d'air en convection naturelle en canal ouvert. Ce travail s'intéresse à l'étude de l'influence du nombre de Rayleigh, du rapport d'allongement et de l'inclinaison du canal par apport au champ de pesanteur sur les valeurs du nombre de Nusselt. Les premiers résultats sont comparés à ceux de la littérature.
Actes du Congrès SFT 2007
Ile des Embiez, France

hal-00293318
https://hal.archives-ouvertes.fr/hal-00293318

Éditeur(s) : HAL CCSD American Geophysical Union
Résumé : International audience
After the January 12, 2010, Haiti earthquake, we deployed a mainly offshore temporary network of seismologic stations around the damaged area. The distribution of the recorded aftershocks, together with morphotectonic observations and mainshock analysis, allow us to constrain a complex fault pattern in the area. Almost all of the aftershocks have a N‐S compressive mechanism, and not the expected left‐lateral strike‐slip mechanism. A first‐order slip model of the mainshock shows a N264°E north‐dipping plane, with a major left‐lateral component and a strong reverse component. As the aftershock distribution is sub‐parallel and close to the Enriquillo fault, we assume that although the cause of the catastrophe was not a rupture along the Enriquillo fault, this fault had an important role as a mechanical boundary. The azimuth of the focal planes of the aftershocks are parallel to the north‐dipping faults of the Transhaitian Belt, which suggests a triggering of failure on these discontinuities. In the western part, the aftershock distribution reflects the triggering of slip on similar faults, and/or, alternatively, of the south‐dipping faults, such the Trois‐Baies submarine fault. These observations are in agreement with a model of an oblique collision of an indenter of the oceanic crust of the Southern Peninsula and the sedimentary wedge of the Transhaitian Belt: the rupture occurred on a wrench fault at the rheologic boundary on top of the under‐thrusting rigid oceanic block, whereas the aftershocks were the result of the relaxation on the hanging wall along pre‐existing discontinuities in the frontal part of the Transhaitian Belt.
ISSN: 0094-8276

insu-00643489
https://hal-insu.archives-ouvertes.fr/insu-00643489
https://hal-insu.archives-ouvertes.fr/insu-00643489/document
https://hal-insu.archives-ouvertes.fr/insu-00643489/file/GRL-haiti.2011.pdf
DOI : 10.1029/2011GL049799