检索结果 - Michel Guipponi

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  1. 1
    The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

    The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro 由 Michel Guipponi

    出版 2002
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  2. 2
    Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

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

    出版 1999
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  3. 3
    TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm

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

    出版 2013
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  4. 4
    Mice Deficient for the Type II Transmembrane Serine Protease, TMPRSS1/hepsin, Exhibit Profound Hearing Loss

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

    出版 2007
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  5. 5
    Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

    Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q 由 Michel Guipponi, François Rivier, Federico Vigevano, Christian Beck, Arielle Crespel, Bernard Échenne, P. Lucchini, R. Sebastianelli, M Baldy-Moulinier, Alain Malafosse

    出版 1997
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  6. 6
    Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations

    Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations 由 Sergey I. Nikolaev, Marco Garieri, Federico Santoni, Emilie Falconnet, Pascale Ribaux, Michel Guipponi, Aoife Murray, Jürgen Groet, Emanuela Giarin, Giuseppe Basso, Dean Nižetić, Stylianos E. Antonarakis

    出版 2014
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  7. 7
    Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

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

    出版 2019
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  8. 8
    Modelling and rescuing neurodevelopmental defect of <scp>D</scp>own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

    Modelling and rescuing neurodevelopmental defect of <scp>D</scp>own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 由 Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M. Reza Sailani, Sophie Dahoun, Federico Santoni, Stefania Gimelli, Michel Guipponi, Marie Françoise Pelte, Frédérique Béna, Stylianos E. Antonarakis, Anis Féki

    出版 2013
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  9. 9
    Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

    Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin 由 Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, György Kosztolányi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjørn R. Olsen, Stylianos E. Antonarakis, Michel Guipponi

    出版 2003
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  10. 10
    Biased Allelic Expression in Human Primary Fibroblast Single Cells

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

    出版 2014
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  11. 11
    A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

    A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas 由 Sergey I. Nikolaev, Sotirios K. Sotiriou, Ioannis S. Pateras, Federico Santoni, Stavros Sougioultzis, Henrik Edgren, Henrikki Almusa, Daniel Robyr, Michel Guipponi, Janna Saarela, Vassilis G. Gorgoulis, Stylianos E. Antonarakis, Thanos D. Halazonetis

    出版 2012
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  12. 12
    DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

    DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins 由 M. Reza Sailani, Federico Santoni, Audrey Letourneau, Christelle Borel, Periklis Makrythanasis, Youssef Hibaoui, Konstantin Popadin, Ximena Bonilla, Michel Guipponi, Corinne Gehrig, Anne Vannier, F. Carré‐Pigeon, Anis Féki, Dean Nižetić, Stylianos E. Antonarakis

    出版 2015
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  13. 13
    Extrachromosomal driver mutations in glioblastoma and low-grade glioma

    Extrachromosomal driver mutations in glioblastoma and low-grade glioma 由 Sergey I. Nikolaev, Federico Santoni, Marco Garieri, Periklis Makrythanasis, Emilie Falconnet, Michel Guipponi, Anne Vannier, Ivan Radovanovic, Frédérique Béna, F Forestier, Karl Schaller, Valérie Dutoit, Virginie Clément‐Schatlo, Pierre‐Yves Dietrich, Stylianos E. Antonarakis

    出版 2014
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  14. 14
    Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

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

    出版 2011
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  15. 15
    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 由 Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, L Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

    出版 2015
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  16. 16
    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies 由 Heather C. Mefford, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, André Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A. Gurnett, Stefan Schreiber, Alexander G. Bassuk, Michel Guipponi, Ulrich Stephani, Katherine L. Helbig, Evan E. Eichler

    出版 2010
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  17. 17
    Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

    Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing 由 María Gutiérrez‐Arcelus, Halit Ongen, Tuuli Lappalainen, Stephen B. Montgomery, Alfonso Buil, Alisa Yurovsky, Julien Bryois, Ismaël Padioleau, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Thomas Giger, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis

    出版 2015
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  18. 18
    An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

    An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss 由 Michel Guipponi, Min-Yen Toh, Justin Tan, Daeho Park, Kelly Hanson, Ester Ballana, David Kwong, Ping Cannon, Qingyu Wu, Alex Gout, Mauro Delorenzi, Terence P. Speed, Richard J. Smith, Henrik Dahl, Michael B. Petersen, Rohan D. Teasdale, Xavier Estivill, Woo Jin Park, Hamish S. Scott

    出版 2007
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  19. 19
    Passive and active DNA methylation and the interplay with genetic variation in gene regulation

    Passive and active DNA methylation and the interplay with genetic variation in gene regulation 由 María Gutiérrez‐Arcelus, Tuuli Lappalainen, Stephen B. Montgomery, Alfonso Buil, Halit Ongen, Alisa Yurovsky, Julien Bryois, Thomas Giger, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Ismaël Padioleau, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis

    出版 2013
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  20. 20
    Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

    Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes 由 Michel Guipponi, Federico Santoni, Vincent Setola, Corinne Gehrig, Maud Rothärmel, Macarena Cuenca, Olivier Guillin, Dimitris Dikeos, Georgios Georgantopoulos, George N. Papadimitriou, Logos Curtis, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Dimitri Avramopoulos, Marion Leboyer, Dan Rujescu, Ann E. Pulver, Dominique Campion, David P. Siderovski, Stylianos E. Antonarakis

    出版 2014
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