Département de médecine génétique et développement

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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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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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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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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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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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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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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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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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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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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 L1-dependant and Pol III transcribed Alu retrotransposon, from its discovery to innate immunityStenz, Ludwig;
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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

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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Genetic ablation of MiR-22 fosters diet-induced obesity and NAFLD developmentGjorgjieva, Monika; Sobolewski, Cyril; Ay Berthomieu, Anne-Sophie; Abegg, Daniel; ... Foti, Michelangelo
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionCleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; ... Bassett, Anne S
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Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D.Vinuela Rodriguez, Ana; Brown, Andrew Anand; Howald, Cédric; Panousis, Nikolaos; ... McCarthy, Mark I
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Goal-Directed-Behavior in 22q11.2 Deletion Syndrome: Implication for Social Dysfunctions and the Emergence of Negative SymptomsDubourg, Lydia; Maeder, Johanna; Pouillard, Virginie; Eliez, Stéphan; Schneider, Maude
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Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitisFraga, Montserrat; Moradpour, Darius; Artru, Florent; Romailler, Elodie; ... Sempoux, Christine
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Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and managementCasini, Alessandro; Neerman Arbez, Marguerite; De Moerloose, Philippe;
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsHuin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; ... Le Ber, Isabelle
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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseLuczkowska, Karolina; Stekelenburg, Caroline; Sloan Bena, Frédérique; Ranza, Emmanuelle Nathalie; ... Maechler, Pierre
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Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A.Ferreira Vilar Da Silva, Rui Filipe; Casini, Alessandro; Fournel, Alexandra; Mourey, Guillaume; Neerman Arbez, Marguerite
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Immunologic clearance of a BK virus-associated metastatic renal allograft carcinomaMeier, Raphael; Muller, Yannick; Dietrich, Pierre-Yves; Tille, Jean-Christophe; ... Berney, Thierry
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LARS2-Perrault syndrome: a new case report and literature reviewCarminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane
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LEMMI: a continuous benchmarking platform for metagenomics classifiersSeppey, Mathieu; Manni, Mose; Zdobnov, Evgeny;
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MCF2 is linked to a complex perisylvian syndrome and affects cortical laminationMolinard-Chenu, Aude; Fluss, Joël Victor; Laurent, Sacha; Laurent, Meryle; ... Dayer, Alexandre
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Meiosis occurs normally in the fetal ovary of mice lacking all retinoic acid receptorsVernet, Nadège; Condrea, Diana; Mayere, Chloé; Féret, Betty; ... Ghyselinck, Norbert B
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Methods to investigate miRNA function: focus on platelet reactivityGarcia, Alix; Geindre, Sylvie Françoise; Fish, Richard; Neerman Arbez, Marguerite; ... Fontana, Pierre
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MicroRNA-126 is a regulator of platelet-supported thrombin generationZapilko, Veronika; Fish, Richard; Garcia, Alix; Reny, Jean-Luc; ... Fontana, Pierre
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Pantoprazole, a proton-pump inhibitor, impairs human sperm motility and capacitation in vitroEscoffier Breancon, Jessica; Arnaud, Bastien; Kaba, Mayis; Hograindleur, Jean Pascal; ... Nef, Serge
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Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotypeSimurda, Tomas; Casini, Alessandro; Stasko, Jan; Hudecek, Jan; ... Kubisz, Peter
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Phigaro: high-throughput prophage sequence annotationStarikova, Elizaveta V; Tikhonova, Polina O; Prianichnikov, Nikita A; Rands, Christopher; ... Govorun, Vadim M
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Pituitary dysmaturation affects psychopathology and neurodevelopment in 22q11.2 Deletion SyndromeSandini, Corrado; Chambaz, Maëlle; Schneider, Maude; Armando, Marco; ... Eliez, Stéphan
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Protection against XY gonadal sex reversal by a variant region on mouse chromosome 13Livermore, Catherine; Simon, Michelle; Reeves, Richard; Stevant, Isabelle; ... Greenfield, Andy
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Regional difference in semen quality of young men: a review on the implication of environmental and lifestyle factors during fetal life and adulthoodRahban, Rita; Nef, Serge;
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Retinoic acid synthesis by ALDH1A proteins is dispensable for meiosis initiation in the mouse fetal ovaryChassot, Anne-Amandine; Le Rolle, Morgane; Jolivet, Geneviève; Stevant, Isabelle; ... Chaboissier, Marie-Christine
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Sawfly genomes reveal evolutionary acquisitions that fostered the mega-radiation of parasitoid and eusocial HymenopteraOeyen, Jan Philip; Zdobnov, Evgeny; Niehuis, Oliver;
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SCN8A heterozygous variants are associated with anoxic-epileptic seizuresRanza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian
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Semen endocannabinoids are correlated to sperm quality in a cohort of 200 young Swiss menZufferey, Fanny; Donzé, Nicolas; Rahban, Rita; Senn, Alfred Paul; ... Rossier, Michel
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SGLT2 is not expressed in pancreatic α- and β-cells, and its inhibition does not directly affect glucagon and insulin secretion in rodents and humansChae, Heeyoung; Augustin, Robert; Gatineau, Eva; Mayoux, Eric; ... Gilon, Patrick
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Statin-induced autoimmune necrotizing myopathy with pharyngeal muscles involvementMirlesse, Nicolas; Egervari, Kristof Levente; Bornand, Aurélie; Lecluse, Julien; ... Cuvelier, Clémence
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Steroid profile analysis by LC-HRMS in human seminal fluidOlesti, Eulalia; Garcia, Arnaud; Rahban, Rita; Rossier, Michel; ... Rudaz, Serge
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Systematic genetic study of diabetic youth in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapyStankute, Ingrida; Verkauskiene, Rasa; Blouin, Jean-Louis; Klee, Philippe; ... Schwitzgebel Luscher, Valérie
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyAnsar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos
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The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in miceBagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar
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The genome of the blind soil-dwelling and ancestrally wingless dipluran campodea augens: a key reference hexapod for studying the emergence of insect innovationsManni, Mose; Simao Neto, Felipe; Robertson, Hugh M; Gabaglio, Marco Aurelio; ... Zdobnov, Evgeny
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Tissue-plasma TMB comparison and plasma TMB monitoring in patients with metastatic non-small cell lung cancer receiving immune checkpoint inhibitorsFriedlaender, Alex; Nouspikel, Thierry; Christinat, Yann; Ho-Mohrle, Liza Kwok-Fung; ... Addeo, Alfredo

Professional Articles

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Triméthylaminurie : un cas pas forcément si rarePedrazzoli, Damien; Giacobino, Ariane;

Doctoral Thesis

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Hemostasis and thrombosis in zebrafish models of human congenital fibrinogen disordersFreire Sanz, Cristina;
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Investigating and modulating the regulation of fibrinogen productionFerreira Vilar Da Silva, Rui Filipe;
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Metagenomic Characterization of the Virome of Clinical SamplesBrito, Francisco;
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Synthetic Activation of Aberrantly Silenced Genes in DiseasesHafner, Nicolas;
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The elusive gamma cell: new insights into the origin, plasticity and identity traits of pancreatic polypeptide-producing cells in mice and menPerez Frances, Marta;
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The Wnt5aTet-ON 3G mouse model reveals new insights on the steroidogenic cell lineageAdemi, Herta;

2019

Scientific Articles

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A 19-month-old boy with refractory cervical adenitisSchneider, Anaïs; Ranza, Emmanuelle Nathalie; Diana, Alessandro; Laurent, Meryle; ... Blanchard Rohner, Géraldine
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A Map of Human Type 1 Diabetes Progression by Imaging Mass CytometryDamond, Nicolas; Engler, Stefanie; Zanotelli, Vito R T; Schapiro, Denis; ... Bodenmiller, Bernd
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Accurate, scalable and integrative haplotype estimationDelaneau, Olivier; Zagury, Jean-François; Robinson, Matthew R; Marchini, Jonathan L; Dermitzakis, Emmanouil
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and MiceCoutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; ... Ray, Pierre F
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BUSCO: assessing genome assembly and annotation completenessSeppey, Mathieu; Manni, Mose; Zdobnov, Evgeny;
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