Département de médecine génétique et développement

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2022

Scientific Articles

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Aberrant developmental patterns of gamma-band response and long-range communication disruption in youths with 22q11.2 deletion syndromeMancini, Valentina; Rochas, Vincent; Seeber, Martin; Roehri, Nicolas; ... Michel, Christoph
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Adult pancreatic islet endocrine cells emerge as fetal hormone-expressing cellsPerez Frances, Marta; Abate, Maria Valentina; Baronnier Caffe, Delphine; Scherer, Philipp E.; ... Herrera, Pedro Luis
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Back to basics: Optimization of DNA and RNA transfer in muscle cells using recent transfection reagentsCocchiararo, Ilaria; Cornut Matthey-Doret, Mélanie; Soldati, Hadrien; Bonavoglia, Alessandro; Castets, Perrine
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Characterizing daily‐life social interactions in adolescents and young adults with neurodevelopmental disorders: a comparison between individuals with autism spectrum disorders and 22q11.2 deletion syndromeFeller, Clémence; Ilen, Laura; Eliez, Stéphan; Schneider, Maude;
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Comprehensive mouse microbiota genome catalog reveals major difference to its human counterpartKieser, Silas; Zdobnov, Evgeny; Trajkovski, Mirko;
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Context-dependent enhancer function revealed by targeted inter-TAD relocationBolt, Christopher Chase; Lopez-Delisle, Lucille; Hintermann, Aurélie; Mascrez, Bénédicte; ... Duboule, Denis
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Deciphering the origins and fates of steroidogenic lineages in the mouse testisAdemi, Herta; Djari, Cyril Claude Michel; Mayere, Chloé; Neirijnck, Yasmine; ... Nef, Serge
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Epigenomic changes after acupuncture treatment in patients suffering from burnoutPetitpierre, Marc; Stenz, Ludwig; Giacobino, Ariane;
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Generation of human islet cell type-specific identity genesetsVan Gurp, Léon; Fodoulian, Leon; Oropeza, Daniel; Furuyama, Kenichiro; ... Herrera, Pedro Luis
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GnRH replacement rescues cognition in Down syndromeManfredi-Lozano, Maria; Leysen, Valerie; Adamo, Michela; Paiva, Isabel; ... Prevot, Vincent
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Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene clusterCouzens, Alexander James; Lebreton, Aurélien; Masclaux, Frédéric; Guipponi, Michel; ... Neerman Arbez, Marguerite
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Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signalingKutaish, Halah; Bengtsson Del Barrio, Laura; Tscholl, Philippe; Marteyn, Antoine; ... Tieng, Vannary
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Immunodeficiency and lymphoma in Jacobsen syndromeNigolian, Haig; Nieke, Jan Philipp; Chevallier, Marion; Stathaki, E; ... Jandus, Peter
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Impact of fibrinogen infusion on thrombin generation and fibrin clot structure in patients with inherited afibrinogenemiaKhayat, Claudia; Marchi Cappelletti, Rita; Durual, Stéphane; Lecompte, Thomas Pierre; ... Casini, Alessandro
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Islet cell replacement and transplantation immunology in a mouse strain with inducible diabetesBhagchandani, Preksha; Chang, Charles A.; Zhao, Weichen; Ghila, Luiza; ... Kim, Seung K.
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Loss of NEDD4 causes complete XY gonadal sex reversal in miceWindley, Simon P; Mayere, Chloé; McGovern, Alice E; Harvey, Natasha L; ... Wilhelm, Dagmar
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Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrityStekelenburg, Caroline; Blouin, Jean-Louis; Santoni, Federico; Zaghloul, Norann; ... Schwitzgebel Luscher, Valérie
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MAZ regulates chromatin domain insulation and genome architectureDarbellay, Fabrice; Rouco, Raquel; Andrey, Guillaume;
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Oligogenic heterozygous inheritance of sperm abnormalities in mouseMartinez, Guillaume; Coutton, Charles; Loeuillet, Corinne; Cazin, Caroline; ... Arnoult, Christophe
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On the origin of metastases: Induction of pro-metastatic states after impending cell death via ER stress, reprogramming, and a cytokine stormConod, Arwen; Silvano, Marianna; Ruiz Altaba, Ariel;
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Optimization of thymidine kinase-based safety switch for neural cell therapyLocatelli, Manon; Delhaes, Flavien; Cherpin, Ophelie; Black, Margaret E.; ... Krause, Karl-Heinz
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Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonadMayere, Chloé; Regard, Violaine; Perea-Gomez, Aitana; Bunce, Corey; ... Nef, Serge
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Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumorsGraf, Monika; Interlandi, Marta; Moreno, Natalia; Holdhof, Dörthe; ... Kerl, Kornelius
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The relationship of maternal and child methylation of the glucocorticoid receptor NR3C1 during early childhood and subsequent child psychopathology at school-age in the context of maternal interpersonal violence-related post-traumatic stress disorderCordero, María I; Stenz, Ludwig; Moser, Dominik A; Rusconi Serpa, Sandra; ... Schechter, Daniel Scott
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TRIM28-dependent SUMOylation protects the adult ovary from activation of the testicular pathwayRossitto, Moïra; Déjardin, Stephanie; Rands, Christopher; Le Gras, Stephanie; ... Poulat, Francis

Doctoral Thesis

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Characterising the Development of Major Steroidogenic Organs Using Single-Cell RNA SequencingSararols, Pauline;
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Gene expression and its relationship to disease and evolutionary pressureSartori, Ambra;
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Impact of genetic variation on gene expression and cellular phenotypesReal, Aline;
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Microbial life in a Proterozoic ocean analogue (Meromictic Lake Cadagno)Saini, Jaspreet Singh;
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New insight into insulin secretion and blood glucose homeostasis in mice lacking islet non-β-cellsAbate, Maria Valentina;
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The non-coding genome and its impact on gene expressionLykoskoufis, Nikolaos Michail Rafail;

2021

Scientific Articles

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A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish familyGuipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
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A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9Sirokha, Dmytro; Gorodna, Olexandra; Vitrenko, Yakov; Zelinska, Nataliya; ... Livshits, Ludmila
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Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literatureZdziarska, Joanna; Wypasek, Ewa; Iwaniec, Teresa; Ferreira Vilar Da Silva, Rui Filipe; ... Undas, Anetta
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Afibrinogenemia with two compound heterozygous mutations in FGA geneFeugray, Guillaume; Billoir, Paul; Casini, Alessandro; Neerman Arbez, Marguerite; ... Le Cam Duchez, Véronique
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Age-related improvements in executive functions and focal attention in 22q11.2 deletion syndrome vary across domain and taskMaeder, Johanna; Zuber, Sascha; Schneider, Maude; Kliegel, Matthias; Eliez, Stéphan
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BAF subunit switching regulates chromatin accessibility to control cell cycle exit in the developing mammalian cortexBraun, Simon; Petrova, Ralitsa; Tang, Jiong; Krokhotin, Andrey; ... Crabtree, Gerald R.
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Benefits of exome sequencing in children with suspected isolated hearing lossVan Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; ... Giacobino, Ariane
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Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisMarconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv
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Cell heterogeneity and paracrine interactions in human islet function: a perspective focused in β-cell regeneration strategiesBru Tari, Eva Maria; Oropeza, Daniel; Herrera, Pedro Luis;
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Cell-specific alterations in Pitx1 regulatory landscape activation caused by the loss of a single enhancerRouco, Raquel; Bompadre, Olimpia; Rauseo, Antonella; Fazio, Olivier; ... Andrey, Guillaume
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Chemical modulators of fibrinogen production and their impact on venous thrombosisFerreira Vilar Da Silva, Rui Filipe; Lukowski, Samuel; Garieri, Marco; Di Sanza, Corinne; ... Fish, Richard
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Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6BCazin, Caroline; Neirijnck, Yasmine; Loeuillet, Corinne; Wehrli, Lydia; ... Kherraf, Zine-Eddine
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Comparison of different activators of coagulation by turbidity analysis of hereditary dysfibrinogenemia and controlsMarchi Cappelletti, Rita; Neerman Arbez, Marguerite; Gay, Valérie; Mourey, Guillaume; ... Casini, Alessandro
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Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion SyndromeDelavari, Farnaz; Sandini, Corrado; Zoeller, Daniela; Mancini, Valentina; ... Eliez, Stéphan
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Enterovirus D: a small but versatile speciesCordeiro Filipe, Inès; Da Rocha Soares Guedes, Mariana; Zdobnov, Evgeny; Tapparel, Caroline;
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Episodic future thinking in autism spectrum disorder and 22q11.2 deletion syndrome: association with anticipatory pleasure and social functioningFeller, Clémence; Dubois, Charlotte; Eliez, Stéphan; Schneider, Maude;
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Ether lipids, sphingolipids and toxic 1-deoxyceramides as hallmarks for lean and obese type 2 diabetic patientsHannich, Joerg Thomas; Loizides-Mangold, Ursula Elfriede; Sinturel, Flore; Harayama, Takeshi; ... Dibner, Charna
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Exploring associations between diurnal cortisol, stress, coping and psychopathology in adolescents and young adults with 22q11.2 deletion syndromeIlen, Laura; Feller, Clémence; Eliez, Stéphan; Micol, Eva; ... Schneider, Maude
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Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutationsMarchi Cappelletti, Rita; Ferreira Vilar Da Silva, Rui Filipe; Durual, Stéphane; Goodyer, Matthew; ... Casini, Alessandro
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From learning to memory: a comparison between verbal and non-verbal skills in 22q11.2 deletion syndromeMaeder, Johanna; Bostelmann, Mathilde; Schneider, Maude; Bortolin, Karin; ... Eliez, Stéphan
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Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studiesCarmeli, Cristian; Kutalik, Zoltán; Mishra, Pashupati P.; Porcu, Eleonora; ... Stringhini, Silvia
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Genome-wide epigenomic analyses in patients with nociceptive and neuropathic chronic pain subtypes reveals alterations in methylation of genes involved in the neuro-musculoskeletal systemStenz, Ludwig; Carré, Joane Le; Luthi, François; Vuistiner, Philippe; ... Léger, Bertrand
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Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centreFehlmann, Aurore; Benkortbi, Khadidja; Rosseel, Ginette; Meyer-Hamme, Ulrike; ... Undurraga Malinverno, Manuela Stefania
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High throughput screening identifies SOX2 as a super pioneer factor that inhibits DNA methylation maintenance at its binding sitesVanzan, Ludovica; Soldati, Hadrien; Ythier, Victor; Anand, Santosh; ... Murr, Rabih
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Illustrated state-of-the-art capsules of the ISTH 2020 congressKrishnaswamy, Sriram; Ageno, Walter; Arabi, Yaseen; Barbui, Tiziano; ... Undas, Anetta
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Long-term effects of early treatment with SSRIs on cognition and brain development in individuals with 22q11.2 deletion syndromeMancini, Valentina; Maeder, Johanna; Bortolin, Karin; Schneider, Maude; ... Eliez, Stephan
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Maternal occupational exposure to endocrine-disrupting chemicals during pregnancy and semen parameters in adulthood: results of a nationwide cross-sectional study among Swiss conscriptsIstvan, M; Rahban, Rita; Dananche, B; Senn, Alfred Paul; ... Garlantézec, R
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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsLaurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel
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mSWI/SNF promotes Polycomb repression both directly and through genome-wide redistributionWeber, Christopher M; Hafner, Antonina; Kirkland, Jacob G; Braun, Simon; ... Crabtree, Gerald R
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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorAllou, Lila; Andrey, Guillaume; Superti-Furga, Andrea;
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Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemiaBartolo, Raquel; Arbez, Maxime; Ferreira Vilar Da Silva, Rui Filipe; Szanto, Timea; ... Neerman Arbez, Marguerite
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Pancreatic Ppy-expressing γ-cells display mixed phenotypic traits and the adaptive plasticity to engage insulin productionPerez Frances, Marta; Van Gurp, Léon; Abate, Maria Valentina; Cigliola, Valentina; ... Herrera, Pedro Luis
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Psychotic experiences in daily-life in adolescents and young adults with 22q11.2 deletion syndrome: An Ecological Momentary Assessment studyFeller, Clémence; Ilen, Laura; Eliez, Stéphan; Schneider, Maude;
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RB608, RB609, RB610, RB611 and RB612 antibodies recognize murine pancreatic polypeptide by ELISAPerez Frances, Marta; Thorel, Fabrizio; Herrera, Pedro Luis;
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Single-cell transcriptomics reveal temporal dynamics of critical regulators of germ cell fate during mouse sex determinationMayere, Chloé; Neirijnck, Yasmine; Sararols, Pauline; Rands, Christopher; ... Nef, Serge
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Specific transcriptomic signatures and dual regulation of steroidogenesis between fetal and adult mouse leydig cellsSararols, Pauline; Stevant, Isabelle; Neirijnck, Yasmine; Rebourcet, Diane; ... Nef, Serge
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Stage-specific transcriptomic changes in pancreatic α-cells after massive β-cell lossOropeza, Daniel; Cigliola, Valentina; Romero, Agustín; Chera, Simona; ... Herrera, Pedro Luis
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The analysis of GSTA1 promoter genetic and functional diversity of human populationsMlakar, Vid; Curtis, Patricia; Armengol, Marc; Ythier, Victor; ... Ansari Djaberi, Marc Georges
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The antidepressant Sertraline inhibits CatSper Ca2+ channels in human spermRahban, Rita; Rehfeld, Anders; Schiffer, Christian; Brenker, Christoph; ... Nef, Serge
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The L1-dependant and Pol III transcribed Alu retrotransposon, from its discovery to innate immunityStenz, Ludwig;
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The RB611 recombinant antibody recognizes human and murine pancreatic polypeptide by immunofluorescencePerez Frances, Marta; Thorel, Fabrizio; Herrera, Pedro Luis;
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Ultrafast pulse shaping modulates perceived visual brightness in living animalsGaulier, Geoffrey; Dietschi, Quentin; Bhattacharyya, Swarnendu; Schmidt, Cédric; ... Wolf, Jean-Pierre
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Whole blood thromboelastometry by ROTEM and thrombin generation by genesia according to the genotype and clinical phenotype in congenital fibrinogen disordersSzanto, Timea; Lassila, Riitta; Lemponen, Marja; Lehtinen, Elina; ... Casini, Alessandro

Posters

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Epigenomic analyses in sub-populations of spermatozoa from infertile men with short anogenital distanceStenz, Ludwig; Beyens, Matthias; Gill, Mark; De Geyter, Christian; Giacobino, Ariane

Doctoral Thesis

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A Phylogenomic Survey of the Epstein-Barr Virus (EBV) in Patients of SwitzerlandLoetscher, Alexis;

2020

Scientific Articles

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A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasisFreire, Cristina; Fish, Richard; Ferreira Vilar Da Silva, Rui Filipe; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
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A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemiaAydin Köker, Sultan; Köker, Alper; Neerman Arbez, Marguerite; Ö Tunçer, Gökçen; ... Coban, Yasemin
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A novel nonsense mutation in FBG (c.1421G>A;p.Trp474Ter) in the beta chain of fibrinogen causing hypofibrinogenemia with bleeding phenotypeSimurda, Tomas; Ferreira Vilar Da Silva, Rui Filipe; Zolkova, Jana; Ceznerova, Eliska; ... Kubisz, Peter
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Ablation of the canonical testosterone production pathway via knockout of the steroidogenic enzyme HSD17B3, reveals a novel mechanism of testicular testosterone productionRebourcet, Diane; Mackay, Rosa; Darbey, Annalucia; Curley, Michael K; ... Smith, Lee B
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Abnormal development and dysconnectivity of distinct thalamic nuclei in patients with 22q11.2 deletion syndrome experiencing auditory hallucinationsMancini, Valentina; Zoeller, Daniela; Schneider, Maude; Schaer, Marie; Eliez, Stéphan
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Altered BDNF methylation in patients with chronic musculoskeletal pain and high biopsychosocial complexityGiacobino, Ariane; Luthi, François; Stenz, Ludwig; Le Carré, Joane; ... Léger, Bertrand
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ATLAS: a snakemake workflow for assembly, annotation, and genomic binning of metagenome sequence dataKieser, Silas; Brown, Joseph; Zdobnov, Evgeny; Trajkovski, Mirko; McCue, Lee Ann
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Beta-cell-specific expression of NOX5 aggravates high fat diet-induced impairment of islet insulin secretion in miceBouzakri, Karim; Veyrat-Durebex, Christelle; Holterman, Chet E; Arous, Caroline; ... Szanto, Ildiko
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Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pestSparks, Michael E; Ioannidis, Panagiotis; Zdobnov, Evgeny; Gundersen-Rindal, Dawn E;
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Case report: a 58 -year -old man with small kidneys and elevated liver enzymesDash, Jonathan; Saudan, Patrick; Giacobino, Ariane; Moll, Solange; De Seigneux Matthey, Sophie
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Case report: unmasked inherited dysfibrinogenemia after everolimus therapyMerkulova, Alona A; Mitchell, Steven C; Merkulov, Sergei; Wolberg, Alisa S; ... Schmaier, Alvin H
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CatSper: The complex main gate of calcium entry in mammalian spermatozoaRahban, Rita; Nef, Serge;
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Combined inhibition of menin-MLL interaction and TGF-β signaling induces replication of human pancreatic beta cellsPahlavanneshan, Saghar; Behmanesh, Mehrdad; Oropeza, Daniel; Furuyama, Kenichiro; ... Baharvand, Hossein
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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien
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Concordance of tumour characteristics and survival clustering among pairs of first-degree relatives with breast cancerRapiti Aylward, Elisabetta; Tille, Jean-Christophe; Fournier, Evelyne; Saiji, Essia; ... Benhamou, Simone
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De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsyHumbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M
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Deficiency in insulin-like growth factors signalling in mouse Leydig cells increase conversion of testosterone to estradiol because of feminizationRadovic Pletikosic, Sava M; Starovlah, Isidora M; Miljkovic, Dejan; Bajic, Dragana M; ... Andric, Silvana A
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Developmental trajectories of cortical thickness in relation to schizotypy during adolescenceDerome, Melodie; Tonini, Emiliana; Zoeller, Daniela; Schaer, Marie; ... Debbané, Martin
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Developmental trajectories of subcortical structures in relation to dimensional schizotypy expression along adolescenceDerome, Melodie; Zoeller, Daniela; Modinos, Gemma; Schaer, Marie; ... Debbané, Martin
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Enhanced genome assembly and a new official gene set for Tribolium castaneumHerndon, Nicolae; Ioannidis, Panagiotis; Zdobnov, Evgeny; Bucher, Gregor;
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Fibrin(ogen) in human disease: both friend and foeFerreira Vilar Da Silva, Rui Filipe; Fish, Richard; Casini, Alessandro; Neerman Arbez, Marguerite;
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Functional Pro-metastatic Heterogeneity Revealed by Spiked-scRNAseq Is Shaped by Cancer Cell Interactions and Restricted by VSIG1Bernal Zamora, Carolina; Silvano, Marianna; Tapponnier, Yann; Anand, Santosh; ... Ruiz Altaba, Ariel
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Gene content evolution in the arthropodsThomas, Gregg W C; Ioannidis, Panagiotis; Zdobnov, Evgeny; Richards, Stephen;
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Generation and characterization of a novel mouse model that allows spatiotemporal quantification of pancreatic β-cell proliferationTokumoto, Shinsuke; Yabe, Daisuke; Tatsuoka, Hisato; Usui, Ryota; ... Inagaki, Nobuya
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