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ArticlesPeer ReviewedFull Text
Strong medicine for French research: the medical-research adviser to France's president aims to shift power and money to universities
Author / Creator:Butler, Declan
Publisher:Nature Publishing Group
Journal title:Nature (London), 2010-07, Vol.466 (7302), p.20
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The CLDN5 gene at the blood-brain barrier in health and disease
Author / Creator:Hashimoto, Yosuke ; Greene, Chris ; Munnich, Arnold ; Campbell, Matthew
Publisher:England: BioMed Central Ltd
Journal title:Fluids and barriers of the CNS, 2023-03, Vol.20 (1), p.22-22, Article 22
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ArticlesPeer ReviewedFull Text
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Author / Creator:Marrakchi, Slaheddine ; Guigue, Philippe ; Renshaw, Blair R ; Puel, Anne ; Pei, Xue-Yuan ; Fraitag, Sylvie ; Zribi, Jihen ; Bal, Elodie ; Cluzeau, Céline ; Chrabieh, Maya ; Towne, Jennifer E ; Douangpanya, Jason ; Pons, Christian ; Mansour, Sourour ; Serre, Valérie ; Makni, Hafedh ; Mahfoudh, Nadia ; Fakhfakh, Faiza ; Bodemer, Christine ; Feingold, Josué ; Hadj-Rabia, Smail ; Favre, Michel ; Genin, Emmanuelle ; Sahbatou, Mourad ; Munnich, Arnold ; Casanova, Jean-Laurent ; Sims, John E ; Turki, Hamida ; Bachelez, Hervé ; Smahi, Asma
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2011-08, Vol.365 (7), p.620-628
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ArticlesPeer ReviewedFull Text
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Author / Creator:Barcia, Giulia ; Fleming, Matthew R ; Deligniere, Aline ; Gazula, Valeswara-Rao ; Brown, Maile R ; Langouet, Maeva ; Chen, Haijun ; Kronengold, Jack ; Abhyankar, Avinash ; Cilio, Roberta ; Nitschke, Patrick ; Kaminska, Anna ; Boddaert, Nathalie ; Casanova, Jean-Laurent ; Desguerre, Isabelle ; Munnich, Arnold ; Dulac, Olivier ; Kaczmarek, Leonard K ; Colleaux, Laurence ; Nabbout, Rima
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-11, Vol.44 (11), p.1255-1259
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ArticlesPeer ReviewedFull Text
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
Author / Creator:Kong, Xiao-Fei ; Worley, Lisa ; Rinchai, Darawan ; Bondet, Vincent ; Jithesh, Puthen Veettil ; Goulet, Marie ; Nonnotte, Emilie ; Rebillat, Anne Sophie ; Conte, Martine ; Mircher, Clotilde ; Gürtler, Nicolas ; Liu, Luyan ; Migaud, Mélanie ; Elanbari, Mohammed ; Habib, Tanwir ; Ma, Cindy S. ; Bustamante, Jacinta ; Abel, Laurent ; Ravel, Aimé ; Lyonnet, Stanislas ; Munnich, Arnold ; Duffy, Darragh ; Chaussabel, Damien ; Casanova, Jean-Laurent ; Tangye, Stuart G ; Boisson-Dupuis, Stéphanie ; Puel, Anne
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-08, Vol.40 (6), p.807-819
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ArticlesPeer ReviewedFull Text
Nuclear Outsourcing of RNA Interference Components to Human Mitochondria
Author / Creator:Bandiera, Simonetta ; Rüberg, Silvia ; Girard, Muriel ; Cagnard, Nicolas ; Hanein, Sylvain ; Chrétien, Dominique ; Munnich, Arnold ; Lyonnet, Stanislas ; Henrion-Caude, Alexandra
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-06, Vol.6 (6), p.e20746-e20746
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ArticlesPeer ReviewedFull Text
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Author / Creator:de Pontual, Loïc ; Yao, Evelyn ; Callier, Patrick ; Faivre, Laurence ; Drouin, Valérie ; Cariou, Sandra ; Van Haeringen, Arie ; Geneviève, David ; Goldenberg, Alice ; Oufadem, Myriam ; Manouvrier, Sylvie ; Munnich, Arnold ; Vidigal, Joana Alves ; Vekemans, Michel ; Lyonnet, Stanislas ; Henrion-Caude, Alexandra ; Ventura, Andrea ; Amiel, Jeanne
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-10, Vol.43 (10), p.1026-1030
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ArticlesPeer ReviewedFull Text
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Author / Creator:Bourdon, Alice ; Minai, Limor ; Serre, Valérie ; Jais, Jean-Philippe ; Sarzi, Emmanuelle ; Aubert, Sophie ; Chrétien, Dominique ; de Lonlay, Pascale ; Paquis-Flucklinger, Véronique ; Arakawa, Hirofumi ; Nakamura, Yusuke ; Munnich, Arnold ; Rötig, Agnès
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-06, Vol.39 (6), p.776-780
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ArticlesPeer ReviewedFull Text
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Author / Creator:Bal, Elodie ; Park, Hyun-Sook ; Belaid-Choucair, Zakia ; Kayserili, Hülya ; Naville, Magali ; Madrange, Marine ; Chiticariu, Elena ; Hadj-Rabia, Smail ; Cagnard, Nicolas ; Kuonen, Francois ; Bachmann, Daniel ; Huber, Marcel ; Le Gall, Cindy ; Côté, Francine ; Hanein, Sylvain ; Rosti, Rasim Özgür ; Aslanger, Ayca Dilruba ; Waisfisz, Quinten ; Bodemer, Christine ; Hermine, Olivier ; Morice-Picard, Fanny ; Labeille, Bruno ; Caux, Frédéric ; Mazereeuw-Hautier, Juliette ; Philip, Nicole ; Levy, Nicolas ; Taieb, Alain ; Avril, Marie-Françoise ; Headon, Denis J ; Gyapay, Gabor ; Magnaldo, Thierry ; Fraitag, Sylvie ; Crollius, Hugues Roest ; Vabres, Pierre ; Hohl, Daniel ; Munnich, Arnold ; Smahi, Asma
Publisher:New York: Nature Publishing Group US
Journal title:Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233
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ArticlesPeer ReviewedFull Text
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
Author / Creator:Demily, Caroline ; Lesca, Gaétan ; Poisson, Alice ; Till, Marianne ; Barcia, Giulia ; Chatron, Nicolas ; Sanlaville, Damien ; Munnich, Arnold
Publisher:New York: Springer US
Journal title:Journal of autism and developmental disorders, 2018-08, Vol.48 (8), p.2886-2889
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ArticlesPeer ReviewedFull Text
Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis
Author / Creator:Allanore, Yannick ; Saad, Mohamad ; Dieudé, Philippe ; Avouac, Jérôme ; Distler, Jorg H. W. ; Amouyel, Philippe ; Matucci-Cerinic, Marco ; Riemekasten, Gabriella ; Airo, Paolo ; Melchers, Inga ; Hachulla, Eric ; Cusi, Daniele ; Wichmann, H.-Erich ; Wipff, Julien ; Lambert, Jean-Charles ; Hunzelmann, Nicolas ; Tiev, Kiet ; Caramaschi, Paola ; Diot, Elisabeth ; Kowal-Bielecka, Otylia ; Valentini, Gabriele ; Mouthon, Luc ; Czirják, László ; Damjanov, Nemanja ; Salvi, Erika ; Conti, Costanza ; Müller, Martina ; Müller-Ladner, Ulf ; Riccieri, Valeria ; Ruiz, Barbara ; Cracowski, Jean-Luc ; Letenneur, Luc ; Dupuy, Anne Marie ; Meyer, Oliver ; Kahan, André ; Munnich, Arnold ; Boileau, Catherine ; Martinez, Maria
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2011-07, Vol.7 (7), p.e1002091-e1002091
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ArticlesPeer ReviewedFull Text
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Author / Creator:Putoux, Audrey ; Thomas, Sophie ; Coene, Karlien L M ; Davis, Erica E ; Alanay, Yasemin ; Ogur, Gönül ; Uz, Elif ; Buzas, Daniela ; Gomes, Céline ; Patrier, Sophie ; Bennett, Christopher L ; Elkhartoufi, Nadia ; Frison, Marie-Hélène Saint ; Rigonnot, Luc ; Joyé, Nicole ; Pruvost, Solenn ; Utine, Gulen Eda ; Boduroglu, Koray ; Nitschke, Patrick ; Fertitta, Laura ; Thauvin-Robinet, Christel ; Munnich, Arnold ; Cormier-Daire, Valérie ; Hennekam, Raoul ; Colin, Estelle ; Akarsu, Nurten Ayse ; Bole-Feysot, Christine ; Cagnard, Nicolas ; Schmitt, Alain ; Goudin, Nicolas ; Lyonnet, Stanislas ; Encha-Razavi, Férechté ; Siffroi, Jean-Pierre ; Winey, Mark ; Katsanis, Nicholas ; Gonzales, Marie ; Vekemans, Michel ; Beales, Philip L ; Attié-Bitach, Tania
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-06, Vol.43 (6), p.601-606
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ArticlesPeer ReviewedFull Text
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Author / Creator:Fountain, Michael D. ; Oleson, David S. ; Rech, Megan E. ; Segebrecht, Lara ; Hunter, Jill V. ; McCarthy, John M. ; Lupo, Philip J. ; Holtgrewe, Manuel ; Moran, Rocio ; Rosenfeld, Jill A. ; Isidor, Bertrand ; Le Caignec, Cédric ; Saenz, Margarita S. ; Pedersen, Robert C. ; Morgan, Thomas M. ; Pfotenhauer, Jean P. ; Xia, Fan ; Bi, Weimin ; Kang, Sung-Hae L. ; Patel, Ankita ; Krantz, Ian D. ; Raible, Sarah E. ; Smith, Wendy ; Cristian, Ingrid ; Torti, Erin ; Juusola, Jane ; Millan, Francisca ; Wentzensen, Ingrid M. ; Person, Richard E. ; Küry, Sébastien ; Bézieau, Stéphane ; Uguen, Kévin ; Férec, Claude ; Munnich, Arnold ; van Haelst, Mieke ; Lichtenbelt, Klaske D. ; van Gassen, Koen ; Hagelstrom, Tanner ; Chawla, Aditi ; Perry, Denise L. ; Taft, Ryan J. ; Jones, Marilyn ; Masser-Frye, Diane ; Dyment, David ; Venkateswaran, Sunita ; Li, Chumei ; Escobar, Luis F. ; Horn, Denise ; Spillmann, Rebecca C. ; Peña, Loren ; Wierzba, Jolanta ; Strom, Tim M. ; Parenti, Ilaria ; Kaiser, Frank J. ; Ehmke, Nadja ; Schaaf, Christian P.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807
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ArticlesPeer ReviewedFull Text
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Author / Creator:Mircsof, Dennis ; Langouët, Maéva ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Cagnard, Nicolas ; Nitschke, Patrick ; Gaspar, Ludmila ; Žnidarič, Matej ; Alibeu, Olivier ; Fritz, Ann-Kristina ; Wolfer, David P ; Schröter, Aileen ; Bosshard, Giovanna ; Rudin, Markus ; Koester, Christina ; Crestani, Florence ; Seebeck, Petra ; Boddaert, Nathalie ; Prescott, Katrina ; Hines, Rochelle ; Moss, Steven J ; Fritschy, Jean-Marc ; Munnich, Arnold ; Amiel, Jeanne ; Brown, Steven A ; Tyagarajan, Shiva K ; Colleaux, Laurence
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2015-12, Vol.18 (12), p.1731-1736
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Author / Creator:Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine ; Sonntag, Stephan ; Tüysüz, Beyhan ; Mihci, Ercan ; Gordon, Christopher T. ; Steichen-Gersdorf, Elisabeth ; Amiel, Jeanne ; Nur, Banu ; Stolte-Dijkstra, Irene ; van Eerde, Albertien M. ; van Gassen, Koen L. ; Breugem, Corstiaan C. ; Stegmann, Alexander ; Lekszas, Caroline ; Maroofian, Reza ; Karimiani, Ehsan Ghayoor ; Bruneel, Arnaud ; Seta, Nathalie ; Munnich, Arnold ; Papy-Garcia, Dulce ; De La Dure-Molla, Muriel ; Cormier-Daire, Valérie
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-08, Vol.9 (1), p.3087-15, Article 3087
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ArticlesPeer ReviewedFull Text
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Author / Creator:Le Goff, Carine ; Mahaut, Clémentine ; Abhyankar, Avinash ; Le Goff, Wilfried ; Serre, Valérie ; Afenjar, Alexandra ; Destrée, Anne ; di Rocco, Maja ; Héron, Delphine ; Jacquemont, Sébastien ; Marlin, Sandrine ; Simon, Marleen ; Tolmie, John ; Verloes, Alain ; Casanova, Jean-Laurent ; Munnich, Arnold ; Cormier-Daire, Valérie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-01, Vol.44 (1), p.85-88
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A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
Author / Creator:Steffann, Julie ; Monnot, Sophie ; Magen, Maryse ; Assouline, Zahra ; Gigarel, Nadine ; Ville, Yves ; Salomon, Laurent ; Bessiere, Bettina ; Martinovic, Jelena ; Rötig, Agnès ; Bengoa, Joana ; Borghèse, Roxana ; Munnich, Arnold ; Barcia, Giulia ; Bonnefont, Jean-Paul
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-04, Vol.23 (4), p.720-731
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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology
Author / Creator:Stoupa, Athanasia ; Adam, Frédéric ; Kariyawasam, Dulanjalee ; Strassel, Catherine ; Gawade, Sanjay ; Szinnai, Gabor ; Kauskot, Alexandre ; Lasne, Dominique ; Janke, Carsten ; Natarajan, Kathiresan ; Schmitt, Alain ; Bole‐Feysot, Christine ; Nitschke, Patrick ; Léger, Juliane ; Jabot‐Hanin, Fabienne ; Tores, Frédéric ; Michel, Anita ; Munnich, Arnold ; Besmond, Claude ; Scharfmann, Raphaël ; Lanza, François ; Borgel, Delphine ; Polak, Michel ; Carré, Aurore
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-12, Vol.10 (12), p.1-n/a
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Newsletter articlesFull Text
Munnich Arnold, Spino Michael, Cabantchik Ioav and Apotex Technologies Inc Granted Spanish Patent for Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellu...
Publisher:New Delhi: Pedia Content Solutions Pvt. Ltd
Journal title:Global IP News. Pharmaceutical Patent News, 2014
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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Author / Creator:Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra ; Zangarelli, Coralie ; Roux, Charles-Joris ; de Lonlay, Pascale ; Steffann, Julie ; Desguerre, Isabelle ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Boddaert, Nathalie ; Rötig, Agnès ; Metodiev, Metodi D. ; Ruzzenente, Benedetta
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.533-538
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Showing 1 to 20 of 287 results

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Strong medicine for French research: the medical-research adviser to France's president aims to shift power and money to universities

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The CLDN5 gene at the blood-brain barrier in health and disease

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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

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Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

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Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

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Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

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A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

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Munnich Arnold, Spino Michael, Cabantchik Ioav and Apotex Technologies Inc Granted Spanish Patent for Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellu...

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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

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