Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.

Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains.

We report the characterisation of 27 cardiovascular-related traits in 23 inbred mouse strains. Mice were phenotyped either in response to chronic administration of a single dose of the beta-adrenergic receptor blocker atenolol or under a low and a high dose of the beta-agonist isoproterenol and compared to baseline condition. The robustness of our data is supported by high trait heritabilities (typically H(2)>0.7) and significant correlations of trait values measured in baseline condition with independent multistrain datasets of the Mouse Phenome Database. We then focused on the drug-, dose-, and strain-specific responses to beta-stimulation and beta-blockade of a selection of traits including heart rate, systolic blood pressure, cardiac weight indices, ECG parameters and body weight. Because of the wealth of data accumulated, we applied integrative analyses such as comprehensive bi-clustering to investigate the structure of the response across the different phenotypes, strains and experimental conditions. Information extracted from these analyses is discussed in terms of novelty and biological implications. For example, we observe that traits related to ventricular weight in most strains respond only to the high dose of isoproterenol, while heart rate and atrial weight are already affected by the low dose. Finally, we observe little concordance between strain similarity based on the phenotypes and genotypic relatedness computed from genomic SNP profiles. This indicates that cardiovascular phenotypes are unlikely to segregate according to global phylogeny, but rather be governed by smaller, local differences in the genetic architecture of the various strains.

Changes in cannabis and tobacco use trajectories from age 17 to age 23

Much like the first volume published in 2011, the second volume of this anthology series gathers a selection of analyses which are empirically based on the data of the Swiss panel study TREE (Transitions from Education to Employment). The contributions of this volume carry on the investigation of the critical transitions during youth and young adulthood, drawing on sociological, economic, psychological and pedagogical research questions and thus highlighting the analytic and pluri-disciplinary research potential of the TREE data. One of the topical foci is the long-term influence of social origin on education and labour market pathways, particularly with regard to access to higher education.

23/3/20, hydroglisseur Despujols [record de vitesse, sur la Seine, près de l'île de la Jatte] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 58614

[23/3/20, équipage du canot Despujols, record de vitesse, sur la Seine, près de l'île de la Jatte] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 58616

23/3/20, hydroglisseur Nieuport [près de l'île de la Jatte] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 58619

Saint-Cloud, 23/5/20, Mlle Amblard-Decugis contre Mlle Speranza-Shimitzu [i. e. Shimizu, 2ème journée du championnat du monde] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59408

Equipe du Racing, [football] association, stade Bergeyre [23 mai 1920] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59383

Stade Bergeyre, 23/5/20, équipe [du Club athlétique de la] Société générale [football] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59384

23/5/20, stade Bergeyre, [football] association, [match du] Racing [club de France] contre [le Club athlétique de la Société] générale : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59385