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1. • Journal article

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   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)
2. • Journal article

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   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)
3. • Journal article

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   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)
4. • Journal article

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   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)
5. • Journal article

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   Ligand-independent Homomeric and Heteromeric Complexes between Interleukin-2 or-9 Receptor Subunits and the gamma Chain

   Malka, Yaniv Knoops, Laurent[UCL] Hornakova, Tekla[UCL] Royer, Yohan[UCL] Renauld, Jean-Christophe[UCL] Constantinescu, Stefan N.[UCL] Henis, Yoav I. (2008) Journal of Biological Chemistry — Vol. 283, no. 48, p. 33569-77 (2008)
6. • Journal article

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   Autosomal dominant von Willebrand disease type 2M.

   Hermans, Cédric[UCL] Batlle, Javier (2009) Acta haematologica — Vol. 121, no. 2-3, p. 139-44 (2009)
7. • Journal article

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   Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

   Gutierrez-Roelens, Ilse[UCL] Sluysmans, Thierry[UCL] Gewillig, Marc Devriendt, Koen Vikkula, Miikka[UCL] (2002) Human Mutation — Vol. 20, no. 1, p. 75-81 (2002)
8. • Journal article

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   Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2.

   Ghalamkarpour, Arash Debauche, Christian[UCL] Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) The Journal of pediatrics — Vol. 155, no. 1, p. 90-3 (2009)
9. • Journal article

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   Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor {alpha} Homodimers.

   Hornakova, Tekla[UCL] Staerk, Judith Royer, Yohan Flex, Elisabetta Tartaglia, Marco Constantinescu, Stefan N.[UCL] Knoops, Laurent Renauld, Jean-Christophe[UCL] (2009) The Journal of biological chemistry — Vol. 284, no. 11, p. 6773-81 (2009)
10. • Journal article

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    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)
11. • Journal article

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    miR-28 is a thrombopoietin receptor targeting microRNA detected in a fraction of myeloproliferative neoplasm patient platelets

    Girardot, Michaël[UCL] Pecquet, Christian[UCL] Boukour, Siham Knoops, Laurent[UCL] Ferrant, Augustin[UCL] Vainchenker, William Giraudier, Stephane Constantinescu, Stefan N.[UCL] (2010) Blood — Vol. 116, no. 3, p. 437-45 (2010)
12. • Journal article

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    Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion

    Møller, A M Ek, J Durviaux, S M[UCL] Urhammer, SA Clausen, J O Eiberg, H Hansen, T Rousseau, Guy[UCL] Lemaigre, Frédéric[UCL] Pedersen, O (1999) Diabetologia : clinical and experimental diabetes and metabolism — Vol. 42, no. 8, p. 1011-1016 (1999)
13. • Journal article

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    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)
14. • Journal article

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    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)
15. • Journal article

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    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)
16. • Journal article

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    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)
17. • Journal article

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    No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

    Baradaran-Heravi, Yalda Dillen, Lubina Nguyen, Hung Phuoc Van Mossevelde, Sara Baets, Jonathan De Jonghe, Peter Engelborghs, Sebastiaan De Deyn, Peter P Vandenbulcke, Mathieu Vandenberghe, Rik Van Damme, Philip Cras, Patrick Salmon, Eric Synofzik, Matthis Heutink, Peter Wilke, Carlo Simon-Sanchez, Javier Rojas-Garcia, Ricard Turon-Sans, Janina Lleó, Alberto Illán-Gala, Ignacio Clarimón, Jordi Borroni, Barbara Padovani, Alessandro Pastor, Pau Diez-Fairen, Monica Aguilar, Miquel Gelpi, Ellen Sanchez-Valle, Raquel Borrego-Ecija, Sergi Matej, Radoslav Parobkova, Eva Nacmias, Benedetta Sorbi, Sandro Bagnoli, Silvia de Mendonça, Alexandre Ferreira, Catarina Fraidakis, Matthew J Diehl-Schmid, Janine Alexopoulos, Panagiotis Almeida, Maria Rosário Santana, Isabel Van Broeckhoven, Christine van der Zee, Julie BELNEU Consortium EU EOD Consortium Ivanoiu, Adrian[UCL] (2018) Neurobiology of aging — Vol. 69, p. 293.e9-293.e11 (2018)
18. • Journal article

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    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)
19. • Journal article

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    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)
20. • Journal article

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    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)
21. • Journal article

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    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)
22. • Journal article

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    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)
23. • Journal article

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    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

    Dierick, Ines Baets, Jonathan Irobi, Joy Jacobs, An De Vriendt, Els Deconinck, Tine Merlini, Luciano Van den Bergh, Peter[UCL] Rasic, Vedrana Milic Robberecht, Wim Fischer, Dirk Morales, Raul Juntas Mitrovic, Zoran Seeman, Pavel Mazanec, Radim Kochanski, Andrzej Jordanova, Albena Auer-Grumbach, Michaela Helderman-van den Enden, A. T. J. M. Wokke, John H. J. Nelis, Eva De Jonghe, Peter Timmerman, Vincent (2008) Brain : a journal of neurology — Vol. 131, no. Pt 5, p. 1217-1227 (2008)
24. • Journal article

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    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)
25. • Journal article

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    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)

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