Département de médecine génétique et développement

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2018

Scientific Articles

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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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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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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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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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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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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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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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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.

Doctoral Thesis

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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;

2017

Scientific Articles

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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayAnsar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos E
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Comparative secretome of ovarian serous carcinoma: Gelsolin in the spotlightPierredon, Sandra; Ribaux, Pascale Garlonne; Tille, Jean-Christophe; Petignat, Patrick; Cohen, Marie-Benoîte
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Converting Adult Pancreatic Islet α Cells into β Cells by Targeting Both Dnmt1 and ArxChakravarthy, Harini; Gu, Xueying; Enge, Martin; Dai, Xiaoqing; ... Kim, Seung K.
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Dnmt1 activity is dispensable in δ-cells but is essential for α-cell homeostasisDamond, Nicolas; Thorel, Fabrizio; Kim, Seung K.; Herrera, Pedro Luis;
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Does differential visual exploration contribute to visual memory impairments in 22q11.2 microdeletion syndrome?Bostelmann, Mathilde; Glaser, Bronwyn; Zaharia, Alexandra; Eliez, Stéphan; Schneider, Maude
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Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerizationAmri, Y; Jouini, H; Becheur, M; Dabboubi, R; ... Toumi, N E H
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Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutationCasini, Alessandro; Brungs, T; Lavenu-Bombled, C; Vilar, R; ... De Moerloose, Philippe
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Genomic Features of the Damselfly Calopteryx splendens Representing a Sister Clade to Most Insect OrdersIoannidis, Panagiotis; Simao Neto, Felipe; Waterhouse, Robert; Manni, Mose; ... Zdobnov, Evgeny
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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumorsAndrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich
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Insulin and Glucagon: Partners for LifeHolst, Jens Juul; Holland, William; Gromada, Jesper; Lee, Young; ... Herrera, Pedro Luis
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Kinetics of functional beta cell mass decay in a diphtheria toxin receptor mouse model of diabetesvan Krieken, Pim P; Dicker, Andrea; Eriksson, Maria; Herrera, Pedro Luis; ... Ilegems, Erwin
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Mafa Enables Pdx1 to Effectively Convert Pancreatic Islet Progenitors and Committed Islet α-Cells into β-Cells in VivoMatsuoka, Taka-aki; Kawashima, Satoshi; Miyatsuka, Takeshi; Sasaki, Shugo; ... Shimomura, Iichiro
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Metagenomics analysis of red blood cell and fresh-frozen plasma unitsLau, Pierre; Cordey, Samuel; Brito, Francisco; Tirefort, Diderik; ... Preynat-Seauve, Olivier
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New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputationFabbri, C; Tansey, K E; Perlis, R H; Hauser, J; ... Lewis, C M
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No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patientsGuipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos
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OrthoDB v9.1: cataloging evolutionary and functional annotations for animal, fungal, plant, archaeal, bacterial and viral orthologsZdobnov, Evgeny; Tegenfeldt, Fredrik; Kuznetsov, D; Waterhouse, Robert; ... Kriventseva, Evgenia
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Pancreatic alpha cell-selective deletion of Tcf7l2 impairs glucagon secretion and counter-regulatory responses to hypoglycaemia in miceda Silva Xavier, Gabriela; Mondragon, Angeles; Mourougavelou, Vishnou; Cruciani-Guglielmacci, Céline; ... Rutter, Guy A
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Pancreatic α Cell-Derived Glucagon-Related Peptides Are Required for β Cell Adaptation and Glucose HomeostasisTraub, Shuyang; Meier, Daniel T.; Schulze, Friederike; Dror, Erez; ... Donath, Marc Y.
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Patient-derived anti-β2GP1 antibodies recognize a peptide motif pattern and not a specific sequence of residuesDe Moerloose, Philippe; Fickentscher, Céline; Boehlen, Françoise; Tiercy, Jean-Marie; ... Brandt, Karim J
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Pectus excavatum et carinatum chez l’enfant et l’adolescent : que dire, que faire ?Lascombes, Pierre François Marie; Ruchonnet, Isabelle; Beghetti, Maurice; Bottani, Armand; Wilde, James Carl Henri
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Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panelKherra, Sakina; Blouin, Jean-Louis; Santoni, Federico; Schwitzgebel Luscher, Valérie;
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Propagation of respiratory viruses in human airway epithelia reveals persistent virus-specific signaturesEssaidi, Manel; Brito, Francisco; Benaoudia, Sacha; Royston, Lena; ... Tapparel, Caroline
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Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemiaCasini, Alessandro; Vilarino, Raquel; Beauverd, Yan; Aslan, D; ... Neerman Arbez, Marguerite
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Quantifying indices of short- and long-range white matter connectivity at each cortical vertexPadula, Maria; Schaer, Marie; Scariati Jaussi, Elisa; Mutlu, Aytac Kadir; ... Eliez, Stéphan
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Rapid evolution of female-biased genes among four species of Anopheles malaria mosquitoesPapa, Francesco; Windbichler, Nikolai; Waterhouse, Robert; Cagnetti, Alessia; ... Papathanos, Philippos Aris
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Reactive oxygen species and NOX enzymes are emerging as key players in cutaneous wound repairLévigne, Dominik; Modarressi Ghavami, Seyed Ali; Pepper, Michael Sean; Pittet Cuenod, Brigitte Maud;
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyRanza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian
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Sertoli Cell Number Defines and Predicts Germ and Leydig Cell Population Sizes in the Adult Mouse TestisRebourcet, Diane; Darbey, Annalucia; Monteiro, Ana; Soffientini, Ugo; ... O'Shaughnessy, Peter J
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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotesKherraf, Zine-Eddine; Christou-Kent, Marie; Karaouzene, Thomas; Amiri-Yekta, Amir; ... Arnoult, Christophe
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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cellsLiu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi
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Testicular Dysgenesis Syndrome and Long-Lasting Epigenetic Silencing of Mouse Sperm Genes Involved in the Reproductive System after Prenatal Exposure to DEHP.Stenz, Ludwig; Escoffier Breancon, Jessica; Rahban, Rita; Nef, Serge; Giacobino, Ariane
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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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Understanding key features of bacterial restriction-modification systems through quantitative modelingRodic, Andjela; Blagojevic, Bojana; Zdobnov, Evgeny; Djordjevic, Magdalena; Djordjevic, Marko

Doctoral Thesis

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Functional dissection of TMED proteins in colon cancer metastasisMishra, Sonakshi;
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Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 casRanza, Emmanuelle Nathalie;
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Omics profiling to dissect complex diseasePanousis, Nikolaos;

2016

Scientific Articles

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A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disordersSimeoni, Ilenia; Neerman Arbez, Marguerite;
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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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Adiposity-Dependent Regulatory Effects on Multi-tissue TranscriptomesGlastonbury, Craig A.; Viñuela, Ana; Buil Demur, Alfonso Alberto; Halldorsson, Gisli H.; ... Small, Kerrin S.
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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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Astrovirus VA1 identified by next-generation sequencing in a nasopharyngeal specimen of a febrile Tanzanian child with acute respiratory disease of unknown etiologyCordey, Samuel; Brito, Francisco; Vu Cantero, Diem-Lan; Turin, Lara; ... Kaiser, Laurent
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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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Divergent JAM-C Expression Accelerates Monocyte-Derived Cell Exit from Atherosclerotic PlaquesBradfield, Paul; Menon, Arjun; Licina, Marijana; Lee, Boris; ... Imhof, Beat
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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; Delaneau, Olivier; Dermitzakis, Emmanouil; Antonarakis, Stylianos;
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Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interfaceMcKenna, Duane D; Scully, Erin D; Pauchet, Yannick; Hoover, Kelli; ... Richards, Stephen
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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; Fish, Richard; ... 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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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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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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Long-Lasting WNT-TCF Response Blocking and Epigenetic Modifying Activities of Withanolide F in Human Cancer CellsSeth, Chandan; Mas, Christophe; Conod, Arwen; Mueller, Jens; ... Ruiz Altaba, Ariel
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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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Multivalent glibenclamide to generate islet specific imaging probesBabic, Andréj; Lamprianou, Smaragda; Vinet, Laurent; Stransky-Heilkron, Nathalie Martine; ... Lange, Norbert
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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 ?Vu 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, 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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