Département de médecine génétique et développement

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2016

Scientific Articles

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A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disordersSimeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; ... Turro, Ernest
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A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-CellsCigliola, Valentina; Populaire, Celine; Pierri, Ciro L; Deutsch, Samuel; ... Meda, Paolo
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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replicationSeplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyAssoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien
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Blockade of glucagon signaling prevents or reverses diabetes onset only if residual β-cells persistDamond, Nicolas; Thorel, Fabrizio; Moyers, Julie S; Charron, Maureen J; ... Herrera, Pedro Luis
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Can the phenotype of inherited fibrinogen disorders be predicted?Casini, Alessandro; De Moerloose, Philippe;
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CEGA - a catalog of conserved elements from genomic alignmentsDousse , Aline ; Junier , Thomas ; Zdobnov , Evgeny ;
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Cell type-specific deletion in mice reveals roles for PAS kinase in insulin and glucagon productionSemplici, Francesca; Mondragon, Angeles; Macintyre, Benedict; Madeyski-Bengston, Katja; ... Rutter, Guy A
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Choking Fits During Sleep Related to EpilepsyMakrythanasis, Periklis; Behr, Charles; Baulac, Stéphanie; Hirsch, Edouard; Picard, Fabienne
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Clinical Features and Management of Congenital Fibrinogen DeficienciesCasini, Alessandro; De Moerloose, Philippe; Neerman-Arbez, Marguerite;
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeJoshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James
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Evolutionary Dynamics of Abundant Stop Codon ReadthroughJungreis, Irwin; Chan, Clara S; Waterhouse , Robert ; Fields, Gabriel; ... Kellis, Manolis
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeMakrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersFokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos
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F-actin dampens NLRP3 inflammasome activity via Flightless-I and LRRFIP2Burger, Danielle; Fickentscher, Céline; De Moerloose, Philippe; Brandt, Karim;
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Fast and efficient QTL mapper for thousands of molecular phenotypesOngen, Halit; Buil Demur, Alfonso Alberto; Brown, Andrew Anand; Dermitzakis, Emmanouil; Delaneau, Olivier
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune CellsChen, Lu; Ge, Bing; Casale, Francesco Paolo; Vasquez, Louella; ... Soranzo, Nicole
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Genome Sequencing of the Phytoseiid Predatory Mite Metaseiulus occidentalis Reveals Completely Atomized Hox Genes and Superdynamic Intron EvolutionHoy, Marjorie A; Waterhouse , Robert ; Wu, Ke; Estep, Alden S; ... Richards, Stephen
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Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosisHinds, David A; Buil Demur, Alfonso Alberto; Ziemek, Daniel; Martinez-Perez, Angel; ... Sabater-Lleal, Maria
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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaBonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich
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Genomic insights into the Ixodes scapularis tick vector of Lyme diseaseGulia-Nuss, Monika; Nuss, Andrew B; Meyer, Jason M; Sonenshine, Daniel E; ... Hill, Catherine A
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityLodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Wiszniewski, Wojciech; ... Merla, Giuseppe
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HGVS Recommendations for the Description of Sequence Variants: 2016 Updateden Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M
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Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.Escoffier Breancon, Jessica; Lee, Hoi Chang; Yassine, Sandra; Zouari, Raoudha; ... Arnoult, Christophe
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IL-13 improves beta-cell survival and protects against IL-1beta-induced beta-cell deathRutti Roch, Sabine; Howald, Cédric; Arous, Caroline; Dermitzakis, Emmanouil; ... Bouzakri, Karim
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Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen DisordersNeerman-Arbez, Marguerite; De Moerloose, Philippe; Casini, Alessandro;
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Lack of Prox1 Downregulation Disrupts the Expansion and Maturation of Postnatal Murine β-CellsPaul, Leena; Walker, Emily M; Drosos, Yiannis; Cyphert, Holly A; ... Sosa-Pineda, Beatriz
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Maladie de Rendu-Osler-Weber : importance d’une prise en charge multidisciplinaireBoehlen, Françoise; Landis, Basile Nicolas; Spahr, Laurent François Joséph; Hachulla-Lemaire, Anne-Lise; ... Noble, Stéphane Laurent
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Maladies génétiques rénales : perspectives diagnostiquesBouatou, Yassine; Giacobino, Ariane; Parvex, Paloma Maria; De Seigneux Matthey, Sophie;
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Metastases and Colon Cancer Tumor Growth Display Divergent Responses to Modulation of Canonical WNT SignalingSeth, Chandan; Ruiz Altaba, Ariel;
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Methylation of Serotonin Receptor 3a in ADHD, Borderline Personality, and Bipolar Disorders: Link with Severity of the Disorders and Childhood MaltreatmentPerroud, Nader Ali; Zewdie Wondimu, Seblewongel; Stenz, Ludwig; Adouan, Wafae; ... Dayer, Alexandre
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MPC1-like Is a Placental Mammal-specific Mitochondrial Pyruvate Carrier Subunit Expressed in Postmeiotic Male Germ CellsVanderperre, Benoît; Cermakova, Kristina; Escoffier Breancon, Jessica; Kaba, Mayis; ... Martinou, Jean-Claude
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Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sextaKanost, Michael R; Arrese, Estela L; Cao, Xiaolong; Chen, Yun-Ru; ... Blissard, Gary W
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New molecular insights into modulation of platelet reactivity in aspirin-treated patients using a network-based approachZufferey Bakos, Anne; Ibberson, Mark; Reny, Jean-Luc; Nolli, Severine; ... Fontana, Pierre
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Novel human astroviruses: novel human diseases ?Given Cantero , Diem Lan ; Cordey , Samuel ; Brito , Francisco ; Kaiser , Laurent ;
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaMakrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko
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Pioneering Activity of the C-Terminal Domain of EBF1 Shapes the Chromatin Landscape for B Cell ProgrammingBoller, Sören; Ramamoorthy, Senthilkumar; Akbas, Duygu; Nechanitzky, Robert; ... Grosschedl, Rudolf
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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) MutationNicastro, Nicolas; Ranza Boscardin, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit;
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Regeneration of pancreatic insulin-producing cells by in situ adaptive cell conversionChera, Simona; Herrera, Pedro Luis;
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processingFerreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael
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Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortexTelley, Ludovic; Govindan, Subashika; Prados, Julien; Stevant, Isabelle; ... Jabaudon, Denis
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Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good OutcomeFluss, Joel Victor; Pellegrinelli, Jean-Marie; Fokstuen, Siv; Moutard, Marie-Laure; ... Hanquinet, Sylviane
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Stress-activated miR-21/miR-21* in hepatocytes promotes lipid and glucose metabolic disorders associated with high-fat diet consumptionCalo, Nicolas Virgile; Ramadori, Pierluigi; Sobolewski, Cyril; Romero, Yannick; ... Foti, Michelangelo
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Stress-impaired transcription factor expression and insulin secretion in transplanted human isletsDai, Chunhua; Kayton, Nora S; Shostak, Alena; Poffenberger, Greg; ... Powers, Alvin C
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Stress-induced adaptive islet cell identity changesCigliola, Valentina; Thorel, Fabrizio; Chera, S; Herrera, Pedro Luis;
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tfec controls the hematopoietic stem cell vascular niche during zebrafish embryogenesisMahony, Christopher; Fish, Richard; Pasche, Corentin; Bertrand, Julien;
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The association of serotonin receptor 3A methylation with maternal violence exposure, neural activity, and child aggressionSchechter, Daniel; Moser, Dominik; Pointet, Virginie; Aue Seil, Tatjana; ... Dayer, Alexandre
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The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and DiscoveryStunnenberg, Hendrik G; Hirst, Martin; Antonarakis, Stylianos;
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The SIB Swiss Institute of Bioinformatics' resources: focus on curated databasesZdobnov , Evgeny ;
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Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic reviewNagler, Michael; Kremer Hovinga, Johanna A; Alberio, Lorenzo; Peter-Salonen, Kristiina; ... Lämmle, Bernhard
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Tick Genome Assembled: New Opportunities for Research on Tick-Host-Pathogen Interactionsde la Fuente, José; Waterhouse, Robert; Sonenshine, Daniel E; Roe, R Michael; ... Hill, Catherine A
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Unique features of a global human ectoparasite identified through sequencing of the bed bug genomeBenoit, Joshua B; Adelman, Zach N; Reinhardt, Klaus; Dolan, Amanda; ... Richards, Stephen

Doctoral Thesis

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Computational identification and analysis of conserved non-coding vertebrate elementsDousse, Aline;
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Differentiation dynamics, postnatal fate and plasticity potential of murine embryonic pancreatic endocrine cellsBaronnier Caffe, Delphine;
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Genomic characterization of basal cell carcinoma of the skinBonilla Bustillo, Ximena;
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Pancreatic islet cell signaling in homeostatic conditions and in regeneration during diabetesCigliola, Valentina;

Privat-docent Thesis

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Research of pathogenic mutations in the human genome through the study of consanguineous familiesMakrythanasis, Periklis;
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Structure and function of the human genomeBorel, Christelle;

2015

Scientific Articles

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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisCalvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga
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A depauperate immune repertoire precedes evolution of sociality in beesBarribeau, Seth M; Sadd, Ben M; du Plessis, Louis; Brown, Mark JF; ... Schmid-Hempel, Paul
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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; ... Brusco, Alfredo
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A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructorZhao, Chaoyang; Escalante, Lucio Navarro; Chen, Hang; Benatti, Thiago R; ... Richards, Stephen
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A standardized method for in vivo mouse pancreas imaging and semiquantitative β cell mass measurement by dual isotope SPECT.Mathijs, Iris; Xavier, Catarina; Peleman, Cindy; Caveliers, Vicky; ... Bouwens, Luc
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Alternative Splicing QTLs in European and African PopulationsOngen, Halit; Dermitzakis, Emmanouil;
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Aspirin-mediated acetylation of haemoglobin increases in presence of high glucose concentration and decreases protein glycationFinamore, Francesco; Priego-Capote, Feliciano; Nolli, Severine; Fontana, Pierre; Sanchez, Jean-Charles
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Assessing allele-specific expression across multiple tissues from RNA-seq read dataPirinen, Matti; Lappalainen, Tuuli Emilia; Zaitlen, Noah A; Dermitzakis, Emmanouil; ... Rivas, Manuel A
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Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic InterventionsPule, Gift Dineo; Ngo Bitoungui, Valentina Josiane; Chetcha Chemegni, Bernard; Kengne, Andre Pascal; ... Wonkam, Ambroise
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Autocrine Action of IGF2 Regulates Adult β-Cell Mass and FunctionModi, Honey; Jacovetti, Cecile; Tarussio, David; Metref, Salima; ... Thorens, Bernard
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BDNF Methylation and Maternal Brain Activity in a Violence-Related SampleMoser, Dominik; Giacobino, Ariane; Stenz, Ludwig; Adouan, Wafae; ... Schechter, Daniel
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BDNF promoter I methylation correlates between post-mortem human peripheral and brain tissuesStenz, Ludwig; Zewdie Wondimu, Seblewongel; Laforge-Escarra, Térèse; Prados, Julien; ... Aubry, Jean-Michel
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Biased allelic expression in human primary fibroblast single cellsBorel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos
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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegenerationMurray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean
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BUSCO: assessing genome assembly and annotation completeness with single-copy orthologsSimao Neto, Felipe; Waterhouse, Robert; Ioannidis, Panagiotis; Kriventseva, Evgenia; Zdobnov, Evgeny
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CATCHing putative causative variants in consanguineous familiesSantoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos;
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Clinical features and viral kinetics in a rapidly cured patient with Ebola virus disease: a case reportSchibler, Manuel; Vetter, Pauline; Cherpillod, Pascal; Petty, Tom J; ... Kaiser, Laurent
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Connective Tissue Growth Factor Modulates Adult β-Cell Maturity and Proliferation to Promote β-Cell Regeneration in MiceRiley, Kimberly G; Pasek, Raymond C; Maulis, Matthew F; Peek, Jennifer; ... Gannon, Maureen
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Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapyvon Laer Tschudin, Letizia; Schwitzgebel Luscher, Valérie; von Scheven-Gête, Annette; Blouin, Jean-Louis; ... Phan-Hug, Franziska
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DICER Regulates the Formation and Maintenance of Cell-Cell Junctions in the Mouse Seminiferous EpitheliumKorhonen, Hanna Maria; Yadav, Ram Prakash; Da Ros, Matteo; Chalmel, Frédéric; ... Kotaja, Noora
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsSailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos
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Dysfibrinogenemia: from molecular anomalies to clinical manifestations and managementCasini, Alessandro; Neerman-Arbez, Marguerite; Ariëns, R A; De Moerloose, Philippe;
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E119D Neuraminidase Mutation Conferring Pan-Resistance to Neuraminidase Inhibitors in an A(H1N1)pdm09 Isolate From a Stem-Cell Transplant RecipientL'Huillier, Arnaud; Abed, Yacine; Petty, Tom; Cordey, Samuel; ... Kaiser, Laurent
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Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersFairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; ... Reinholdt, Laura G
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Familial epilepsy in Algeria: Clinical features and inheritance profilesChentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos
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Galanin pathogenic mutations in temporal lobe epilepsyGuipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos
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Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight InfantAnderson De La Llana, Sabrina; Klee, Philippe; Santoni, Federico; Stekelenburg, Caroline; ... Schwitzgebel Luscher, Valérie
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Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twinsBuil Demur, Alfonso Alberto; Brown, Andrew Anand; Lappalainen, Tuuli Emilia; Viñuela, Ana; ... Dermitzakis, Emmanouil
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Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infectionMesquita, Rafael D; Vionette-Amaral, Raquel J; Lowenberger, Carl; Rivera-Pomar, Rolando; ... Oliveira, Pedro L
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Genome sequence of the Asian Tiger mosquito, Aedes albopictus, reveals insights into its biology, genetics, and evolutionChen, Xiao-Guang; Jiang, Xuanting; Gu, Jinbao; Xu, Meng; ... James, Anthony A
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Highly evolvable malaria vectors: The genomes of 16 Anopheles mosquitoesNeafsey, D. E.; Waterhouse, Robert; Abai, M. R.; Aganezov, S. S.; ... Besansky, N. J.
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HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporationRosa, Annachiara; Chande, Ajit; Ziglio, Serena; De Sanctis, Veronica; ... Pizzato, Massimo
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsLetourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos
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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeRivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; ... Antonarakis, Stylianos
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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humansDermitzakis, Emmanouil;
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Human genomics. The human transcriptome across tissues and individualsMelé, Marta; Ferreira, Pedro G; Reverter, Ferran; DeLuca, David S; ... Guigó, Roderic
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Human three-dimensional engineered neural tissue reveals cellular and molecular events following cytomegalovirus infectionCosset Canet, Erika; Martinez, Yannick; Preynat-Seauve, Olivier; Lobrinus, Johannes-Alexander; ... Krause, Karl-Heinz
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Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literatureCasini, Alessandro; Sokollik, C; Lukowski, Samuel; Lurz, E; ... Neerman-Arbez, Marguerite
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Impaired Cell Cycle Regulation in a Natural Equine Model of AsthmaPacholewska, Alicja; Jagannathan, Vidhya; Drögemüller, Michaela; Klukowska-Rötzler, Jolanta; ... Gerber, Vincent
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In vivo epigenetic reprogramming of primary human colon cancer cells enhances metastasesSingovski, Grigori; Bernal Zamora, Carolina; Kuciak, Monika; Siegl-Cachedenier, Irène; ... Ruiz Altaba, Ariel
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