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    • Article de périodique
    A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
    Hildebrand, Joanne M Kauppi, Maria Majewski, Ian J Liu, Zikou Cox, Allison J Miyake, Sanae Petrie, Emma J Silk, Michael A Li, Zhixiu Tanzer, Maria C Brumatti, Gabriela Young, Samuel N Hall, Cathrine Garnish, Sarah E Corbin, Jason Stutz, Michael D Di Rago, Ladina Gangatirkar, Pradnya Josefsson, Emma C Rigbye, Kristin Anderton, Holly Rickard, James A Tripaydonis, Anne Sheridan, Julie Scerri, Thomas S Jackson, Victoria E Czabotar, Peter E Zhang, Jian-Guo Varghese, Leila[UCL] Allison, Cody C Pellegrini, Marc Tannahill, Gillian M Hatchell, Esme C Willson, Tracy A Stockwell, Dina de Graaf, Carolyn A Collinge, Janelle Hilton, Adrienne Silke, Natasha Spall, Sukhdeep K Chau, Diep Athanasopoulos, Vicki Metcalf, Donald Laxer, Ronald M Bassuk, Alexander G Darbro, Benjamin W Fiatarone Singh, Maria A Vlahovich, Nicole Hughes, David Kozlovskaia, Maria Ascher, David B Warnatz, Klaus Venhoff, Nils Thiel, Jens Biben, Christine Blum, Stefan Reveille, John Hildebrand, Michael S Vinuesa, Carola G McCombe, Pamela Brown, Matthew A Kile, Benjamin T McLean, Catriona Bahlo, Melanie Masters, Seth L Nakano, Hiroyasu Ferguson, Polly J Murphy, James M Alexander, Warren S Silke, John (2020) Nature communications — Vol. 11, no.1, p. 3150 [1-16] (2020)
    • Article de périodique
    The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
    Maystadt, Isabelle[UCL] Rezsohazy, René[UCL] Barkats, Martine Duque, Sandra Vannuffel, Pascal Remacle, Sophie[UCL] Lambert, Barbara[UCL] Najimi, Mustapha[UCL] Sokal, Etienne[UCL] Munnich, Arnold Viollet, Louis Dumoulin, Christine[UCL] (2007) American Journal of Human Genetics — Vol. 81, no. 1, p. 67-76 (2007)
    • Article de périodique
    Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
    Marie, S. Race, V Nassogne, Marie-Cécile[UCL] Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (2002) American journal of human genetics — Vol. 71, no. 1, p. 14-21 (2002)
    • Article de périodique
    Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
    Race, V Marie, S.[UCL] Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (2000) Human molecular genetics — Vol. 9, no. 14, p. 2159-65 (2000)
    • Article de périodique
    Blau syndrome associated with a CARD15/NOD2 mutation.
    Snyers, Bernadette[UCL] Dahan, Karin[UCL] (2006) American journal of ophthalmology — Vol. 142, no. 6, p. 1089-92 (2006)
    • Article de périodique
    Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie, S. Cuppens, Harry[UCL] Heuterspreute, M Jaspers, Martine[UCL] Tola, E Z Gu, X X Legius, Eric[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. Cassiman, J J Van den Berghe, Georges[UCL] (1999) Human mutation — Vol. 13, no. 3, p. 197-202 (1999)
    • Article de périodique
    Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
    Baguette, Christel Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] Louis, Jacques Dahan, Karin[UCL] Vincent, Marie-Françoise[UCL] Cornu, Guy[UCL] (2002) Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology — Vol. 24, no. 1, p. 69-71 (2002)
    • Article de périodique
    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
    • Article de périodique
    Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
    Irrthum, Alexandre[UCL] Devriendt, Koenraad Chitayat, David Matthijs, Gert Glade, Conrad Steijlen, Peter M Fryns, Jean-Pierre Van Steensel, Maurice A M Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 72, no. 6, p. 1470-1478 (2003)
    • Article de périodique
    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
    Betsalel, Ofir T Pop, Ana Rosenberg, Efraim H Fernandez-Ojeda, Matilde Jakobs, Cornelis Salomons, Gajja S (2012) Molecular genetics and metabolism — Vol. 105, no.4, p. 596-601 (2012)
    • Article de périodique
    Mass spectrometry studies of demetallation of haemin by recombinant horse L chain apoferritin and its mutant (E 53,56,57,60 Q).
    de Val, Natalia Herschbach, Haiko Potier, Noëlle Dorsselaer, Alain Van Crichton, Robert[UCL] (2006) FEBS letters — Vol. 580, no. 26, p. 6275-80 (2006)
    • Article de périodique
    Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.
    Tang, Tzu-Chun Kienlen-Campard, Pascal[UCL] Hu, Yi Perrin, Florian Opsomer, Rémi[UCL] Octave, Jean-Noël[UCL] Constantinescu, Stefan N.[UCL] Smith, Steven O (2019) The Journal of biological chemistry — Vol. 294, no. 15, p. 5854-5866 (2019)
    • Article de périodique
    Autosomal dominant von Willebrand disease type 2M.
    Hermans, Cédric[UCL] Batlle, Javier (2009) Acta haematologica — Vol. 121, no. 2-3, p. 139-44 (2009)
    • Article de périodique
    Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
    Cuesta-Muñoz, Antonio L Huopio, Hanna Otonkoski, Timo Gomez-Zumaquero, Juan M Näntö-Salonen, Kirsti Rahier, Jacques[UCL] López-Enriquez, Soledad García-Gimeno, Maria A Sanz, Pascual Soriguer, Federico C Laakso, Markku (2004) Diabetes — Vol. 53, no. 8, p. 2164-8 (2004)
    • Article de périodique
    Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
    De Leeneer, Kim Van Bockstal, Mieke[UCL] De Brouwer, Sara Swietek, Natalia Schietecatte, Peter Sabbaghian, Nelly Van den Ende, Jenneke Willocx, Sandra Storm, Katrien Blaumeiser, Bettina Van Asperen, Christi J Wijnen, Juul T Leunen, Karin Legius, Eric Michils, Geneviève Matthijs, Geert Blok, Marinus J Gómez-García, Encarna De Paepe, An Tischkowitz, Marc Poppe, Bruce Claes, Kathleen (2012) Breast cancer research and treatment — Vol. 133, no. 1, p. 393-398 (2012)
    • Article de périodique
    Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms.
    Mambet, Cristina[UCL] Babosova, Olga Defour, Jean-Philippe[UCL] Leroy, Emilie[UCL] Necula, Laura Stanca, Oana Tatic, Aurelia Berbec, Nicoleta Coriu, Daniel Belickova, Monika Kralova, Barbora Lanikova, Lucie Vesela, Jitka Pecquet, Christian[UCL] Saussoy, Pascale[UCL] Havelange, Violaine[UCL] Diaconu, Carmen C Divoky, Vladimir Constantinescu, Stefan N.[UCL] (2018) Blood — Vol. 132, no. 25, p. 2695-2699 (2018)
    • Article de périodique
    Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux, Cyril Ceballos-Picot, Irène Marie, Sandrine[UCL] Valayannopoulos, Vassili Rio, Marlène Verrieres, Séverine Benoist, Jean François Vincent, Marie-Françoise[UCL] Desguerre, Isabelle Bahi-Buisson, Nadia (2009) European journal of human genetics : EJHG — Vol. 17, no. 1, p. 133-6 (2009)
    • Article de périodique
    Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
    Van den Bergh, Peter[UCL] Gerard, Jean-Marc[UCL] Elosegi, J A Manto, M U Kubisch, C. Schoser, B G H (2004) Journal of neurology, neurosurgery, and psychiatry — Vol. 75, no. 9, p. 1349-51 (2004)
    • Article de périodique
    The JAK2V617F mutation can occur in a hematopoietic stem cell that exhibits no proliferative advantage: a case of human allogeneic transplantation.
    Van Pelt, Kristien Nollet, Friedel Selleslag, Dominik Knoops, Laurent[UCL] Constantinescu, Stefan N.[UCL] Criel, Arnold Billiet, Johan (2008) Blood — Vol. 112, no.3, p. 921-922 (2008)
    • Article de périodique
    Clinical spectrum of -related epileptic disorders.
    Wolking, Stefan May, Patrick Mei, Davide Møller, Rikke S Balestrini, Simona Helbig, Katherine L Altuzarra, Cecilia Desmettre Chatron, Nicolas Kaiwar, Charu Stöhr, Katharina Widdess-Walsh, Peter Mendelsohn, Bryce A Numis, Adam Cilio, Maria-Roberta[UCL] Van Paesschen, Wim Svendsen, Lene L Oates, Stephanie Hughes, Elaine Goyal, Sushma Brown, Kathleen Sifuentes Saenz, Margarita Dorn, Thomas Muhle, Hiltrud Pagnamenta, Alistair T Vavoulis, Dimitris V Knight, Samantha J L Taylor, Jenny C Canevini, Maria Paola Darra, Francesca Gavrilova, Ralitza H Powis, Zöe Tang, Shan Marquetand, Justus Armstrong, Martin McHale, Duncan Klee, Eric W Kluger, Gerhard J Lowenstein, Daniel H Weckhuysen, Sarah Pal, Deb K Helbig, Ingo Guerrini, Renzo Thomas, Rhys H Rees, Mark I Lesca, Gaetan Sisodiya, Sanjay M Weber, Yvonne G Lal, Dennis Marini, Carla Lerche, Holger Schubert, Julian (2019) Neurology — Vol. 92, no.11, p. e1238-e1249 (2019)
    • Article de périodique
    Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
    Panagiotakaki, Eleni Tiziano, Francesco D Mikati, Mohamad A Vijfhuizen, Lisanne S Nicole, Sophie Lesca, Gaetan Abiusi, Emanuela Novelli, Agnese Di Pietro, Lorena I.B.AHC Consortium IAHCRC Consortium Harder, Aster V E Walley, Nicole M De Grandis, Elisa Poulat, Anne-Lise Portes, Vincent Des Lépine, Anne Nassogne, Marie-Cécile[UCL] Arzimanoglou, Alexis Vavassori, Rosaria Koenderink, Jan Thompson, Christopher H George, Alfred L Gurrieri, Fiorella van den Maagdenberg, Arn M J M Heinzen, Erin L (2024) European journal of human genetics — Vol. 32, no.2, p. 224-231 (2024)
    • Article de périodique
    Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
    Struys, Eduard A. Salomons, Gajja S. Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Grosso, Salvatore Craigen, William J. Verhoeven, Nanda M. Jakobs, Cornelis (2005) American Journal of Human Genetics — Vol. 76, no. 2, p. 358-360 (2005)
    • Article de périodique
    Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline.
    Wopperer, Florian J Olinger, Eric[UCL] Wiesener, Antje Broeker, Katharina A E Knaup, Karl X Schaefer, Jan T Galiano, Matthias Schneider, Karen Schiffer, Mario Genomics England Research Consortium Büttner-Herold, Maike Reis, André Schmieder, Roland Pasutto, Francesca Hilgers, Karl F Poglitsch, Marko Ziegler, Christine Shoemaker, Robin Sayer, John A Wiesener, Michael S (2024) Hypertension (Dallas, Tex. : 1979) — Vol. 81, no.9, p. 1857-1868 (2024)
    • Article de périodique
    PTHR1 mutations associated with Ollier disease result in receptor loss of function
    Couvineau, Alain Wouters, Vinciane[UCL] Bertrand, Guylène Rouyer, Christiane Gérard, Bénédicte Boon, Laurence M.[UCL] Grandchamp, Bernard Vikkula, Miikka[UCL] Silve, Caroline (2008) Human Molecular Genetics — Vol. 17, no. 18, p. 2766-75 (2008)
    • Article de périodique
    Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.
    Fournet, J C Mayaud, C de Lonlay, P Verkarre, V Rahier, Jacques[UCL] Brunelle, F Robert, J J Nihoul-Fékété, C Saudubray, J M Junien, C. (2000) Hormone research — Vol. 53 Suppl 1, p. 2-6 (2000)

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