Search Results - "Gagnebin, M"

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients by Guipponi, M, Santoni, F, Schneider, M, Gehrig, C, Bustillo, X B, Kates, W R, Morrow, B, Armando, M, Vicari, S, Sloan-Béna, F, Gagnebin, M, Shashi, V, Hooper, S R, Eliez, S, Antonarakis, S E

“…The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent…”
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature by Béna, Frédérique, Bruno, Damien L., Eriksson, Mats, van Ravenswaaij-Arts, Conny, Stark, Zornitza, Dijkhuizen, Trijnie, Gerkes, Erica, Gimelli, Stefania, Ganesamoorthy, Devika, Thuresson, Ann Charlotte, Labalme, Audrey, Till, Marianne, Bilan, Frédéric, Pasquier, Laurent, Kitzis, Alain, Dubourgm, Christele, Rossi, Massimiliano, Bottani, Armand, Gagnebin, Maryline, Sanlaville, Damien, Gilbert-Dussardier, Brigitte, Guipponi, Michel, van Haeringen, Arie, Kriek, Marjolein, Ruivenkamp, Claudia, Antonarakis, Stylianos E., Anderlid, Britt Marie, Slater, Howard R., Schoumans, Jacqueline

“…This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest…”
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Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance by Prandini, Paola, Deutsch, Samuel, Lyle, Robert, Gagnebin, Maryline, Vivier, Celine Delucinge, Delorenzi, Mauro, Gehrig, Corinne, Descombes, Patrick, Sherman, Stephanie, Bricarelli, Franca Dagna, Baldo, Chiara, Novelli, Antonio, Dallapiccola, Bruno, Antonarakis, Stylianos E.

“…Down syndrome (DS) is characterized by extensive phenotypic variability, with most traits occurring in only a fraction of affected individuals. Substantial…”
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Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes by Deutsch, Samuel, Lyle, Robert, Dermitzakis, Emmanouil T., Attar, Homa, Subrahmanyan, Lakshman, Gehrig, Corinne, Parand, Leila, Gagnebin, Maryline, Rougemont, Jacques, Jongeneel, C. Victor, Antonarakis, Stylianos E.

“…Inter-individual differences in gene expression are likely to account for an important fraction of phenotypic differences, including susceptibility to common…”
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Mapping of Small RNAs in the Human ENCODE Regions by Borel, Christelle, Gagnebin, Maryline, Gehrig, Corinne, Kriventseva, Evgenia V., Zdobnov, Evgeny M., Antonarakis, Stylianos E.

“…The elucidation of the largely unknown transcriptome of small RNAs is crucial for the understanding of genome and cellular function. We report here the results…”
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Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3' Untranslated Region: A Mechanism for Functional Single-Nucieotide Polymorphisms Related to Phenotypes by Sethupathy, P, Borel, C, Gagnebin, M, Grant, G R, Deutsch, S, Elton, T S, Hatzigeorglou, A G, Antonarakis, SE

“…Animal microRNAs (miRNAs) regulate gene expression through base pairing to their targets within the 3' untranslated region (UTR) of protein-coding genes…”
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Défense et illustration de la notion de « greffe métaphorisante: Après l'analyse by GAGNEBIN, M

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De l'essentielle falsification des perceptions : voyage à travers l'art: Percevoir by GAGNEBIN, M

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Escher ou la fascination du sans fond by Gagnebin, Murielle

“…Résumé A travers l'oeuvre du graveur M. C. Escher (1898-1972), considérée du point de vue de la stratégie défensive et de son inévitable infiltration par la…”
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Le Printemps: L'Hécatombe à Diane d'Agrippa d'Aubigné by Benoit, Leroy J.

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Mort de la mémoire, mémoire de la mort : De l'écriture chez Platon: Philosophie ancienne by GAGNEBIN, J.-M

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Histoire, mémoire et oubli chez Walter Benjamin: Philosophies allemandes by GAGNEBIN, J.-M

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