Search Results - Patrick Nitschké

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  1. 1
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 by Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    Published 2014
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  2. 2
    The human gene connectome as a map of short cuts for morbid allele discovery

    The human gene connectome as a map of short cuts for morbid allele discovery by Yuval Itan, Shen‐Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschké, Dror Fried, Lluís Quintana‐Murci, Laurent Abel, Jean‐Laurent Casanova

    Published 2013
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  3. 3
    A human immunodeficiency caused by mutations in the PIK3R1 gene

    A human immunodeficiency caused by mutations in the PIK3R1 gene by Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez, Christine Bôle‐Feysot, Patrick Nitschké, Marina Cavazzana, Capucine Pïcard, Anne Durandy, Alain Fischer, Sven Kracker

    Published 2014
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  4. 4
    Antitumour activity of an inhibitor of miR-34a in liver cancer with β-catenin-mutations

    Antitumour activity of an inhibitor of miR-34a in liver cancer with β-catenin-mutations by Angélique Gougèlet, Chiara Sartor, Laura Bachelot, Cécile Godard, Carmen Marchiol, Gilles Renault, Frédéric Torès, Patrick Nitschké, Catherine Cavard, Benoît Terris, Christine Perret, Sabine Colnot

    Published 2015
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  5. 5
    Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

    Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders by Lam Son Nguyen, Julien Fregeac, Christine Bôle‐Feysot, Nicolas Cagnard, Anand M. Iyer, Jasper J. Anink, Eleonora Aronica, Olivier Alibeu, Patrick Nitschké, Laurence Colleaux

    Published 2018
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  6. 6
    A human immunodeficiency caused by mutations in the PIK3R1 gene

    A human immunodeficiency caused by mutations in the PIK3R1 gene by Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez, Christine Bole‐Feysot, Patrick Nitschké, Marina Cavazzana, Capucine Pïcard, Anne Durandy, Alain Fischer, Sven Kracker

    Published 2015
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  7. 7
    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance by Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschké, Lluı́s Quintana-Murci, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    Published 2014
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  8. 8
    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation by Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bôle‐Feysot, Patrick Nitschké, Asma Smahi, Arnold Münnich, Laurence Colleaux

    Published 2009
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  9. 9
    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man by Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jéléna Martinovic, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

    Published 2012
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  10. 10
    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome by Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire

    Published 2014
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  11. 11
    MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

    MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival by Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André‐Schmutz, Apiradee Lim, Patrick Nitschké, Frédéric Rieux‐Laucat, Patrick Lutz, Capucine Pïcard, Nizar Mahlaoui, Alain Fischer, Geneviève de Saint Basile

    Published 2011
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  12. 12
    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency by Vanessa Vedrenne, Gowher Ali, Pascale de Lonlay, Patrick Nitschké, Valérie Serre, Nathalie Boddaert, Cécilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Münnich, Ivan Tarassov, Agnès Rötig

    Published 2012
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  13. 13
    SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation

    SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation by C. Moretti, Maria‐Elisabetta Serrentino, Côme Ialy‐Radio, Marion Delessard, Tatiana Soboleva, Frédéric Torès, Marjorie Leduc, Patrick Nitschké, Joël R. Drevet, David J. Tremethick, Daniel Vaiman, Ayhan Kocer, Julie Cocquet

    Published 2017
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  14. 14
    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis by Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait

    Published 2018
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  15. 15
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders by Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim

    Published 2018
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  16. 16
    Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect

    Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect by Julien Carvelli, Christelle Pipéroglou, Catherine Farnarier, Frédéric Vely, K. Mazodier, Sandra Audonnet, Patrick Nitschké, Christine Bôle‐Feysot, Mohamed Boucékine, Audrey Cambon, M. Hamidou, Jean‐Robert Harlé, Geneviève de Saint Basile, Gilles Kaplanski

    Published 2020
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  17. 17
    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing by Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Saïd Lebbah, Alexandra Topa, Christine Bôle‐Feysot, Solenn Pruvost, Patrick Nitschké, Emmanuelle Plaisier, Bertrand Knebelmann, Marie‐Alice Macher, Laure‐Hélène Noël, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    Published 2014
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  18. 18
    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis by Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunès, Dominique Valeyre, J.-F. Cordier, Isabelle Callebaut, Cathérine Boileau, Vincent Cottin, Bernard Grandchamp, Patrick Revy, Bruno Crestani

    Published 2015
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  19. 19
    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation by Anthony Drecourt, Joël Babdor, Michaël Dussiot, Floriane Petit, Nicolas Goudin, Meriem Garfa-Traoré, Florence Habarou, Christine Bôle‐Feysot, Patrick Nitschké, Chris Ottolenghi, Metodi D. Metodiev, Valérie Serre, I. Desguerre, Nathalie Boddaert, Olivier Hermine, Arnold Münnich, Agnès Rötig

    Published 2018
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  20. 20
    CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

    CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation by Emmanuel Martin, Noé Palmic, Sylvia Sanquer, Christelle Lenoir, Fabian Hauck, Cédric Mongellaz, Sylvie Fabrega, Patrick Nitschké, Mauro Degli Esposti, Jeremy Schwartzentruber, Naomi Taylor, Jacek Majewski, Nada Jabado, Robert Wynn, Capucine Pïcard, Alain Fischer, Peter D. Arkwright, Sylvain Latour

    Published 2014
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