Département de médecine génétique et développement

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2020

Scientific Articles

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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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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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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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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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Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotypeSimurda, Tomas; Casini, Alessandro; Stasko, Jan; Hudecek, Jan; ... Kubisz, Peter
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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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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

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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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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Cellular circadian period length inversely correlates with HbA1c levels in individuals with type 2 diabetesSinturel, Flore; Makhlouf, Anne-Marie; Meyer, Patrick; Tran, Christel; ... Dibner, Charna
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Characterizing the bipotential mammalian gonadNef, Serge; Stevant, Isabelle; Greenfield, Andy;
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Chimeric NANOG repressors inhibit glioblastoma growth in vivo in a context-dependent mannerKuciak, Monika; Mas, Christophe; Borges Grazina, Ana Isabel; Sánchez-Gómez, Pilar; Ruiz Altaba, Ariel
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Chromatin topology in development and diseaseBompadre, Olimpia; Andrey, Guillaume;
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Detection of dicistroviruses RNA in blood of febrile Tanzanian childrenCordey, Samuel; Laubscher, Florian; Hartley, Mary-Anne; Junier, Thomas; ... Kaiser, Laurent
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Diabetes relief in mice by glucose-sensing insulin-secreting human α-cellsFuruyama, Kenichiro; Chera, Simona; Van Gurp, Léon; Oropeza, Daniel; ... Herrera, Pedro Luis
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Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell TranscriptomicsStevant, Isabelle; Kuhne, Françoise; Greenfield, Andy; Chaboissier, Marie-Christine; ... Nef, Serge
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetesStekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie
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Expression of the DNA-binding factor TOX promotes the encephalitogenic potential of microbe-induced autoreactive CD8+ T cellsPage, Nicolas; Klimek, Bogna; De Roo, Mathias; Steinbach, Karin; ... Merkler, Doron
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Fate of systemically and locally administered adipose-derived mesenchymal stromal cells and their effect on wound healingKallmeyer, Karlien; Lévigne, Dominik; Baquie, Mathurin; Krause, Karl-Heinz; ... Modarressi Ghavami, Seyed Ali
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Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial eventsTreliński, Jacek; Witkowski, Michał; Chojnowski, Krzysztof; Neerman Arbez, Marguerite; ... Undas, Anetta
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Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH diseaseLito, Silvin; Burda, Patricie; Baumgartner, Matthias; Sloan Bena, Frédérique; ... Marteyn, Antoine
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Genetic Control of Gonadal Sex Determination and DevelopmentStevant, Isabelle; Nef, Serge;
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Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipientsQuteineh, Lina; Wójtowicz, Agnieszka; Bochud, Pierre-Yves; Crettol, Séverine; ... Eap, Chin Bin
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Genetic resistance to DEHP-induced transgenerational endocrine disruptionStenz, Ludwig; Rahban, Rita; Prados, Julien; Nef, Serge; Giacobino, Ariane
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Genomic signatures accompanying the dietary shift to phytophagy in polyphagan beetlesSeppey, Mathieu; Ioannidis, Panagiotis; Emerson, Brent C; Pitteloud, Camille; ... Alvarez, Nadir
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GPR40 activation initiates store-operated Ca2+ entry and potentiates insulin secretion via the IP3R1/STIM1/Orai1 pathway in pancreatic β-cellsUsui, Ryota; Yabe, Daisuke; Fauzi, Muhammad; Goto, Hisanori; ... Inagaki, Nobuya
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Impaired factor XIII activation in patients with congenital afibrinogenemiaBridey, Françoise; Négrier, Claude; Duval, Cedric; Ariëns, Robert; ... Casini, Alessandro
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Modeling single-molecule conformations of the HoxD region in mouse embryonic stem and cortical neuronal cellsBianco, Simona; Annunziatella, Carlo; Andrey, Guillaume; Chiariello, Andrea M; ... Nicodemi, Mario
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Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genomePanfilio, Kristen A; Vargas Jentzsch, Iris M; Benoit, Joshua B; Erezyilmaz, Deniz; ... Richards, Stephen
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Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: a systematic literature reviewValiton, Vivian; Hugon-Rodin, Justine; Fontana, Pierre; Neerman Arbez, Marguerite; Casini, Alessandro
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OrthoDB v10: sampling the diversity of animal, plant, fungal, protist, bacterial and viral genomes for evolutionary and functional annotations of orthologsKriventseva, Evgenia; Kouznetsov, Dimitri; Tegenfeldt, Fredrik; Manni, Mose; ... Zdobnov, Evgeny
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeMcElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; ... Bashamboo, Anu
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Positive psychotic symptoms are associated with divergent developmental trajectories of hippocampal volume during late adolescence in patients with 22q11DSMancini, Valentina; Sandini, Corrado; Padula, Maria; Zoeller, Daniela; ... Eliez, Stéphan
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Prevalence, course and psychosis-predictive value of negative symptoms in 22q11.2 deletion syndromeSchneider, Maude; Armando, Marco; Schultze-Lutter, Frauke; Pontillo, Maria; ... Eliez, Stéphan
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Semen quality of young men in Switzerland: a nationwide cross‐sectional population‐based studyRahban, Rita; Priskorn, L.; Senn, Alfred Paul; Stettler, Eric; ... Nef, Serge
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The insulin/IGF system in mammalian sexual development and reproductionNeirijnck, Yasmine; Papaioannou, Maria-Eleni; Nef, Serge;
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The protein secretion modulator TMED9 drives CNIH4/TGFα/GLI signaling opposing TMED3-WNT-TCF to promote colon cancer metastasesMishra, Sonakshi; Bernal Zamora, Carolina; Silvano, Marianna; Anand, Santosh; Ruiz Altaba, Ariel
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The ReproGenomics Viewer: a multi-omics and cross-species resource compatible with single-cell studies for the reproductive science communityDarde, Thomas A; Lecluze, Estelle; Lardenois, Aurélie; Stevant, Isabelle; ... Chalmel, Frédéric
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Tissue repair brakes: a common paradigm in the biology of regenerationCigliola, Valentina; Ghila, Luiza; Chera, Simona; Herrera, Pedro Luis;
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Tumor Suppressor PTEN Regulates Negatively Sertoli Cell Proliferation, Testis Size, and Sperm Production In VivoNeirijnck, Yasmine; Kuhne, Françoise; Mayere, Chloé; Pavlova, Ekaterina; ... Nef, Serge
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Using BUSCO to Assess Insect Genomic ResourcesWaterhouse, Robert M; Seppey, Mathieu; Simao Neto, Felipe; Zdobnov, Evgeny;
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Viral sequences detection by high-throughput sequencing in cerebrospinal fluid of individuals with and without central nervous system diseaseSchibler, Manuel; Brito, Francisco; Zanella, Marie-Céline; Zdobnov, Evgeny; ... Kaiser, Laurent

Book Chapters

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Detection of proteoforms using top-down mass spectrometry and diagnostic ionsCoelho Graca, Didia; Hartmer, Ralf; Jabs, Wolfgang; Scherl, Alexander; ... Lescuyer, Pierre

Doctoral Thesis

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Mechanisms of pro-metastatic state inductionConod, Arwen;
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Super pioneer transcription factors: a new class of transcription factors that can induce DNA demethylationVanzan, Ludovica;

2018

Scientific Articles

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A brief history of sex determinationStevant, Isabelle; Papaioannou, Marilena D; Nef, Serge;
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A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X ChromosomeIlaslan, Erkut; Calvel, Pierre; Nowak, Dominika; Szarras-Czapnik, Maria; ... Kusz-Zamelczyk, Kamila
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A triad of infantile spasms, nystagmus and a focal tonic seizureGarcia Tarodo, Stephanie; Nguyen, Thu; Ranza, Emmanuelle Nathalie; Vulliemoz, Serge; Korff, Christian
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ACI-1 beta-lactamase is widespread across human gut microbiomes in Negativicutes due to transposons harboured by tailed prophagesRands, Christopher; Starikova, Elizaveta V; Brüssow, Harald; Kriventseva, Evgenia; ... Zdobnov, Evgeny
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Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking LymphomaBaleydier, Frederic; Ranza, Emmanuelle Nathalie; Schäppi, Michela; Rougemont-Pidoux, Anne-Laure; ... Blanchard Rohner, Géraldine
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Age-dependent changes in mean and variance of gene expression across tissues in a twin cohortVinuela Rodriguez, Ana; Brown, Andrew Anand; Buil Demur, Alfonso Alberto; Tsai, Pei-Chien; ... Small, Kerrin S
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Angiogenin and osteoprotegerin are type II muscle specific myokines protecting pancreatic beta-cells against proinflammatory cytokinesRutti Roch, Sabine; Dusaulcy, Rodolphe; Hansen, Jakob S.; Howald, Cédric; ... Bouzakri, Karim
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Antithrombotiques dans le syndrome des anticorps antiphospholipides thrombotiqueChrysafi, Maria; Casini, Alessandro;
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Clinical Consequences and Molecular Bases of Low Fibrinogen LevelsNeerman Arbez, Marguerite; Casini, Alessandro;
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Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related DiabetesKlee, Philippe; Dirlewanger, Mijam; Lavallard, Vanessa; Mclin, Valérie Anne; ... Schwitzgebel Luscher, Valérie
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Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancerKondelin, Johanna; Salokas, Kari; Saarinen, Lilli; Ovaska, Kristian; ... Aaltonen, Lauri A
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative DisorderVarvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv
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Contribution of allelic imbalance to colorectal cancerPalin, Kimmo; Pitkänen, Esa; Turunen, Mikko; Sahu, Biswajyoti; ... Aaltonen, Lauri A.
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Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosisPadula, Maria; Schaer, Marie; Armando, Marco; Sandini, Corrado; ... Eliez, Stéphan
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Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibilityKherraf, Zine-Eddine; Conne, Béatrice; Amiri-Yekta, Amir; Kent, Marie Christou; ... Ray, Pierre F
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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA SequencingStevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge
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Development of Structural Covariance From Childhood to Adolescence: A Longitudinal Study in 22q11.2DS.Sandini, Corrado; Zoeller, Daniela; Scariati Jaussi, Elisa; Padula, Maria; ... Eliez, Stéphan
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Expression of the DNA-binding factor TOX promotes the encephalitogenic potential of microbe-induced autoreactive CD8+ T cellsPage, Nicolas; Klimek, Bogna; De Roo, Mathias; Steinbach, Karin; ... Merkler, Doron
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Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case reportKurian, Mary; Korff, Christian; Ranza, Emmanuelle Nathalie; Bernasconi, Andrea; ... Bast, Thomas
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Human pegivirus persistence in the human blood virome after allogeneic haematopoietic stem cell transplantationVu Cantero, Diem-Lan; Cordey, Samuel; Simonetta, Federico; Brito, Francisco; ... Kaiser, Laurent
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In silico Analysis Suggests Common Appearance of scaRNAs in Type II Systems and Their Association With Bacterial VirulenceGuzina, Jelena; Chen, Wei-Hua; Stankovic, Tamara; Djordjevic, Magdalena; ... Djordjevic, Marko
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Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMoysés-Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard; Rosenfeld, Jill A; ... Reymond, Alexandre
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Insulin and IGF1 receptors are essential for the development and steroidogenic function of adult Leydig cellsNeirijnck, Yasmine; Calvel, Pierre; Kilcoyne, Karen R; Kuhne, Françoise; ... Nef, Serge
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Insulin/IGF1 signalling regulates the mitochondrial biogenesis markers in steroidogenic cells of prepubertal testis, but not ovaryRadovic, Sava M; Starovlah, Isidora M; Cap, Ivan; Miljkovic, Dejan; ... Andric, Silvana A
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Intergenerational Transmission of DNA Methylation Signatures Associated with Early Life StressStenz, Ludwig; Schechter, Daniel; Rusconi Serpa, Sandra; Giacobino, Ariane;
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisGueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre
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Local chromatin interactions contribute to expression of the fibrinogen gene clusterEspitia Jaimes, Cindy; Fish, Richard; Neerman Arbez, Marguerite;
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Metagenomics analysis of the virome of 300 concentrates from a Swiss platelet bankBrito, Francisco; Cordey, Samuel; Delwart, Eric; Deng, Xutao; ... Preynat-Seauve, Olivier
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MRPL53, a new candidate gene for orofacial clefting, identified using an eQTL approachMasotti, C.; Brito, L.A.; Nica, A.C.; Ludwig, K.U.; ... Passos-Bueno, M.R.
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Mutational epidemiology of congenital fibrinogen disordersCasini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite
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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and humanCoutton, Charles; Conne, Béatrice; Escoffier Breancon, Jessica; Nef, Serge;
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherLambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane
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NRG1 signalling regulates the establishment of Sertoli cell stock in the mouse testisGregoire, Elodie P; Stevant, Isabelle; Chassot, Anne-Amandine; Martin, Luc; ... Chaboissier, Marie-Christine
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Pancreatic islet-autonomous insulin and smoothened-mediated signalling modulate identity changes of glucagon+ α-cellsCigliola, Valentina; Ghila, Luiza Mihaela; Thorel, Fabrizio; Van Gurp, Léon; ... Herrera, Pedro Luis
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PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and miceChristou-Kent, Marie; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; Le Blévec, Emilie; ... Arnoult, Christophe
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Recipient rs1045642 Polymorphism Is Associated With Office Blood Pressure at 1-Year Post Kidney Transplantation: A Single Center Pharmacogenetic Cohort Pilot StudyBouatou, Yassine; Stenz, Ludwig; Ponte, Belen; Ferrari, Serge Livio; ... Hadaya, Karine
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Responsiveness to anti-PD-1 and anti-CTLA-4 immune checkpoint blockade in SB28 and GL261 mouse glioma modelsGenoud, Vassilis; Marinari, Eliana; Nikolaev, Sergey Igorievich; Castle, John C; ... Walker, Paul Richard
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Similarities and differences in the regulation of HoxD genes during chick and mouse limb developmentYakushiji-Kaminatsui, Nayuta; Lopez-Delisle, Lucille; Bolt, Christopher Chase; Andrey, Guillaume; ... Duboule, Denis
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Single cell transcriptome sequencing: A new approach for the study of mammalian sex determinationStevant, Isabelle; Nef, Serge;
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Steroid profiles in both blood serum and seminal plasma are not correlated and do not reflect sperm quality: Study on the male reproductive health of fifty young Swiss menZufferey, Fanny; Rahban, Rita; Garcia, Arnaud; Gagnebin, Yoric; ... Rossier, Michel F
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The impact of new technologies in our understanding of testis formation and functionNef, Serge; Wilhelm, Dagmar;
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Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal musclePerrin, Laurent; Loizides-Mangold, Ursula; Chanon, Stéphanie; Gobet, Cédric; ... Dibner, Charna
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variationGamazon, Eric R.; Segrè, Ayellet V.; van de Bunt, Martijn; Wen, Xiaoquan; ... Ardlie, Kristin G.
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ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signalingHarris, Abigail; Siggers, Pam; Corrochano, Silvia; Warr, Nick; ... Greenfield, Andy
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α-cell glucokinase suppresses glucose-regulated glucagon secretionBasco, Davide; Zhang, Quan; Salehi, Albert; Tarasov, Andrei; ... Thorens, Bernard
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β Cell-Specific Deletion of the IL-1 Receptor Antagonist Impairs β Cell Proliferation and Insulin SecretionBöni-Schnetzler, Marianne; Häuselmann, Stéphanie P.; Dalmas, Elise; Meier, Daniel T.; ... Donath, Marc Y.

Professional Articles

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Handicap intellectuel : apport de la génétique pour le diagnostic étiologiqueJouan, Chrystel; Kosel, Markus Mathaus; Abramowicz, Marc; Giacobino, Ariane;

Doctoral Thesis

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De novo genomics of non-model arthropodsSimao Neto, Felipe;
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Dissecting the variability of molecular phenotypes in population cell lines and single cellsGarieri, Marco;
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Monitoring gonadal somatic cell differentiation during sex determination using single-cell RNA sequencingStevant, Isabelle;
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Regulation of the human fibrinogen gene cluster through chromatin interactionsEspitia Jaimes, Cindy;
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