検索結果 - Guipponi, Michel

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice 著者: Hanifa, Syazana, Scott, Hamish S, Crewther, Pauline, Guipponi, Michel, Tan, Justin

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Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33 著者: Moulard, Bruno, Guipponi, Michel, Chaigne, Denys, Mouthon, Dominique, Buresi, Catherine, Malafosse, Alain

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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm 著者: De Iaco, Alberto, Santoni, Federico, Vannier, Anne, Guipponi, Michel, Antonarakis, Stylianos, Luban, Jeremy

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MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination 著者: Molinard‐Chenu, Aude, Fluss, Joël, Laurent, Sacha, Laurent, Méryle, Guipponi, Michel, Dayer, Alexandre G.

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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster 著者: Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.

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Next generation diagnostics on cardiomyopathy 著者: Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree 著者: Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

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LARS2-Perrault syndrome: a new case report and literature review 著者: Carminho-Rodrigues, Maria Teresa, Klee, Phillipe, Laurent, Sacha, Guipponi, Michel, Abramowicz, Marc, Cao-van, Hélène, Guinand, Nils, Paoloni-Giacobino, Ariane

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Mice Deficient for the Type II Transmembrane Serine Protease, TMPRSS1/hepsin, Exhibit Profound Hearing Loss 著者: Guipponi, Michel, Tan, Justin, Cannon, Ping Z.F., Donley, Lauren, Crewther, Pauline, Clarke, Maria, Wu, Qingyu, Shepherd, Robert K., Scott, Hamish S.

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A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family 著者: Belhedi, Nejla, Bena, Frédérique, Mrabet, Amel, Guipponi, Michel, Souissi, Chiraz Bouchlaka, Mrabet, Hela Khiari, Elgaaied, Amel Benammar, Malafosse, Alain, Salzmann, Annick

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Chromosome Conformation Capture Uncovers Potential Genome-Wide Interactions between Human Conserved Non-Coding Sequences 著者: Robyr, Daniel, Friedli, Marc, Gehrig, Corinne, Arcangeli, Mélanie, Marin, Marilyn, Guipponi, Michel, Farinelli, Laurent, Barde, Isabelle, Verp, Sonia, Trono, Didier, Antonarakis, Stylianos E.

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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 family 著者: Guipponi, Michel, Masclaux, Frédéric, Sloan-Béna, Frédérique, Di Sanza, Corinne, Özbek, Namik, Peyvandi, Flora, Menegatti, Marzia, Casini, Alessandro, Malbora, Baris, Neerman-Arbez, Marguerite

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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells 著者: Letourneau, Audrey, Cobellis, Gilda, Fort, Alexandre, Santoni, Federico, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Vannier, Anne, Guipponi, Michel, Carninci, Piero, Borel, Christelle, Antonarakis, Stylianos E.

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance 著者: Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 著者: Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Sailani, M Reza, Dahoun, Sophie, Santoni, Federico A, Gimelli, Stefania, Guipponi, Michel, Pelte, Marie Françoise, Béna, Frédérique, Antonarakis, Stylianos E, Feki, Anis

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Biased Allelic Expression in Human Primary Fibroblast Single Cells 著者: Borel, Christelle, Ferreira, Pedro G., Santoni, Federico, Delaneau, Olivier, Fort, Alexandre, Popadin, Konstantin Y., Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Guipponi, Michel, Padioleau, Ismael, Carninci, Piero, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E.

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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss 著者: Van Heurck, Roxane, Carminho-Rodrigues, Maria Teresa, Ranza, Emmanuelle, Stafuzza, Caterina, Quteineh, Lina, Gehrig, Corinne, Hammar, Eva, Guipponi, Michel, Abramowicz, Marc, Senn, Pascal, Guinand, Nils, Cao-Van, Helene, Paoloni-Giacobino, Ariane

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Extrachromosomal driver mutations in glioblastoma and low grade glioma 著者: Nikolaev, Sergey, Santoni, Federico, Garieri, Marco, Makrythanasis, Periklis, Falconnet, Emilie, Guipponi, Michel, Vannier, Anne, Radovanovic, Ivan, Bena, Frederique, Forestier, Françoise, Schaller, Karl, Dutoit, Valerie, Clement-Schatlo, Virginie, Dietrich, Pierre-Yves, Antonarakis, Stylianos E

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Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing 著者: Fasquelle, Lydie, Scott, Hamish S., Lenoir, Marc, Wang, Jing, Rebillard, Guy, Gaboyard, Sophie, Venteo, Stéphanie, François, Florence, Mausset-Bonnefont, Anne-Laure, Antonarakis, Stylianos E., Neidhart, Elizabeth, Chabbert, Christian, Puel, Jean-Luc, Guipponi, Michel, Delprat, Benjamin

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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins 著者: Sailani, M. Reza, Santoni, Federico A., Letourneau, Audrey, Borel, Christelle, Makrythanasis, Periklis, Hibaoui, Youssef, Popadin, Konstantin, Bonilla, Ximena, Guipponi, Michel, Gehrig, Corinne, Vannier, Anne, Carre-Pigeon, Frederique, Feki, Anis, Nizetic, Dean, Antonarakis, Stylianos E.

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