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See detailIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter, L.; Ghassibe, M.; Revencu, N. et al

in Molecular Syndromology (2010), 1(2), 67-74

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 clefts. Therefore, we ... [more ▼]

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 clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance. [less ▲]

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See detailFormation of polyamide 12-polyisoprene core-shell particles in polystyrene by reactive blending
Koulic, Christian; François, G.; Jérôme, Robert ULg

in Macromolecules (2004), 37(14), 5317-5322

Polyamide 12 (PA12)-polyisoprene (PIP) particles with a thermoplastic core and a rubbery shell have been prepared in a thermoplastic matrix (PS) by reactive blending. For this purpose, an anhydride-end ... [more ▼]

Polyamide 12 (PA12)-polyisoprene (PIP) particles with a thermoplastic core and a rubbery shell have been prepared in a thermoplastic matrix (PS) by reactive blending. For this purpose, an anhydride-end-capped PS-b-PIP diblock (PS-b-PIP-anh) has been reacted with PA12 chains end-capped (50% of them) by a primary amine and dispersed in PS. A PS-b-PIP-PA12 triblock has been formed at the interface between the PS matrix and the dispersed PA12 microdomains. Thus, the phase morphology consists of PA12 core-PIP shell particles dispersed in PS. The nonreacted PA12 with respect to PS-b-PIP-anh dictates the size of the polyamide (core) domains, and the reactive diblock (mainly the molecular weight of the PIP block) imposes the shell thickness and modulates the core size by its capacity to compatibilize PA12 and the thermoplastic matrix. [less ▲]

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See detailInfluence du 'sense of coherence' dans l'adaptation aux conséquences aversives du traumatisme
François, G.; Brouette, Béatrice ULg; Etienne, Anne-Marie ULg et al

in Revue Francophone de Clinique Comportementale et Cognitive (2000), V(1), 20-27

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