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1. • Journal article

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   Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

   Flex, Elisabetta Petrangeli, Valentina Stella, Lorenzo Chiaretti, Sabina Hornakova, Tekla[UCL] Knoops, Laurent[UCL] Ariola, Cristina Fodale, Valentina Clappier, Emmanuelle Sanchez, Massimo Tavolaro, Simona Messina, Monica Cazzaniga, Giovanni Camera, Andrea Pizzolo, Giovanni Tornesello, Assunta Vignetti, Marco Battistini, Angela Cavé, Hélène Gelb, Bruce, D Renauld, Jean-Christophe[UCL] Biondi, Andrea Constantinescu, Stefan N.[UCL] Foa, Robin Tartaglia, Marco (2008) The Journal of Experimental Medicine — Vol. 205, no. 4, p. 751-8 (2008)
2. • Journal article

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   Regulation of HIF-1 alpha stability through S-nitrosylation

   Li, Fang Sonveaux, Pierre[UCL] Rabbani, Zahid N. Liu, Shanling Yan, Bin Huang, Qian Vujaskovic, Zeljko Dewhirst, Mark W. Li, Chuan-Yuan (2007) Molecular Cell — Vol. 26, no. 1, p. 63-74 (2007)
3. • Journal article

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   In vivo p53 response and immune reaction underlie highly effective low-dose radiotherapy in follicular lymphoma

   Knoops, Laurent[UCL] Haas, Rick de Kemp, Sanne Majoor, Donne Broeks, Annegien Eldering, Eric de Boer, Jan Paul Verheij, Marcel van Ostrom, Conny de Vries, Annemieke van't Veer, Laura de Jong, Daphne (2007) Blood — Vol. 110, no. 4, p. 1116-22 (2007)
4. • Journal article

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   A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

   Hermans, Cédric[UCL] Wittevrongel, Christine[UCL] Thys, Chantal Smethurst, Peter A. Van Geet, Christel Freson, Kathleen (2009) Journal of Thrombosis and Haemostasis — Vol. 7, no. 8, p. 1356-63 (2009)
5. • Journal article

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   Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

   Vuillaumier-Barrot, S. Van den Bergh, Peter[UCL] Quijano-Roy, S. Bouchet-Seraphin, C. Maugenre, S. Peudenier, S. Marcorelles, P. Avila-Smirnow, D. Chelbi, M. Romero, N. B. Carlier, R. Y. Estournet, B. Guicheney, P. Seta, N. (2009) Neuromuscular Disorders — Vol. 19, no. 3, p. 182-188 (2009)
6. • Journal article

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   Apolipoprotein E receptors are required for Reelin-induced proteasomal degradation of the neuronal adaptor protein Disabled-1

   Bock, HH Jossin, Yves[UCL] May, P J[UCL] Bergner, O Herz, J (2004) Journal of Biological Chemistry — Vol. 279, no. 32, p. 33471-9 (2004)
7. • Journal article

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   Mutations in SACS cause atypical and late-onset forms of ARSACS

   Baets, J. Van den Bergh, Peter[UCL] Deconinck, T. Smets, K. Goossens, D. Dahan, Karin[UCL] Schmedding, E. Santens, P. Rasic, V. Milic Van Damme, Patricia[UCL] Robberecht, Wim[UCL] De Meirleir, L. Michielsens, B. Del-Favero, J. Jordanova, A. De Jonghe, P. (2010) Neurology — Vol. 75, no. 13, p. 1181-8 (2010)
8. • Journal article

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   ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon

   Hornakova, Tekla[UCL] Chiaretti, Sabina Lemaire, Muriel[UCL] Foa, Robin Ben Abdelali, Raouf Asnafi, Vahid Tartaglia, Marco Renauld, Jean-Christophe[UCL] Knoops, Laurent[UCL] (2010) Blood — Vol. 115, no. 16, p. 3287-95 (2010)
9. • Journal article

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   Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus

   Tissir, Fadel[UCL] Qu, Yibo[UCL] Montcouquiol, Mireille Zhou, Libing[UCL] Komatsu, Kouji Shi, Dongbo Fujimori, Toshihiko Labeau, Jason[UCL] Tyteca, Donatienne[UCL] Courtoy, Pierre J.[UCL] Poumay, Yves Uemura, Tadashi Goffinet, André[UCL] (2010) Nature Neuroscience — Vol. 13, no. 6, p. 700-707 (2010)
10. • Journal article

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    Flowering response of the uniflora:blind:self pruning and jointless:uniflora:self pruning tomato (Solanum lycopersicum) triple mutants.

    Quinet, Muriel[UCL] Kinet, Jean-Marie[UCL] Lutts, Stanley[UCL] (2011) Physiologia plantarum — Vol. 141, no. 2, p. 166-76 (2011)
11. • Journal article

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    The protein disulfide isomerase DsbC cooperates with SurA and DsbA in the assembly of the essential beta-barrel protein LptD.

    Denoncin, Katleen[UCL] Vertommen, Didier[UCL] Paek, Eunok Collet, Jean-François[UCL] (2010) Journal of Biological Chemistry — Vol. 285, no. 38, p. 29425-29433 (2010)
12. • Journal article

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    Functional and morphological adaptation to peptidoglycan precursors alteration in Lactococcus lactis.

    Deghorain, Marie[UCL] Fontaine, Laetitia[UCL] David, Blandine[UCL] Mainardi, Jean-Luc Courtin, Pascal Daniel, Richard Errington, Jeff Sorokin, Alexei Bolotin, Alexander Chapot-Chartier, Marie-Pierre Hallet, Bernard[UCL] Hols, Pascal[UCL] (2010) The Journal of biological chemistry — Vol. 285, no. 31, p. 24003-13 (2010)
13. • Journal article

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    Fluoroquinolones induce the expression of patA and patB, which encode ABC efflux pumps in Streptococcus pneumoniae.

    El Garch, Farid[UCL] Lismond, Ann[UCL] Piddock, Laura J. V. Courvalin, Patrice Tulkens, Paul M.[UCL] Van Bambeke, Françoise[UCL] (2010) Journal of Antimicrobial Chemotherapy — Vol. 65, no. 10, p. 2076-2082 (2010)
14. • Journal article

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    Molecular identification of NAT8 as the enzyme that acetylates cysteine-S-conjugates to mercapturic acids

    Veiga da Cunha, Maria[UCL] Tyteca, Donatienne[UCL] Stroobant, Vincent[UCL] Courtoy, Pierre J.[UCL] Opperdoes, Frederik[UCL] Van Schaftingen, Emile[UCL] (2010) Journal of Biological Chemistry — Vol. 285, no. 24, p. 18888-18898 (2010)
15. • Journal article

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    Mutagenic study of the structure, function and biogenesis of the yeast plasma membrane H+-ATPase

    Morsomme, Pierre[UCL] Slayman, CW. Goffeau, André[UCL] (2000) BBA - Reviews on Biomembranes — Vol. 1469, no. 3, p. 133-157 (2000)
16. • Journal article

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    SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

    Bennett, CL Shirk, AJ Huynh, HM Street, VA Nelis, E. Van Maldergem, L. De Jonghe, P. Jordanova, A. Guergueltcheva, V Tournev, I Van den Bergh, Peter[UCL] Seeman, P Mazanec, R Prochazka, T Kremensky, I[UCL] Haberlova, J Weiss, MD Timmerman, V Bird, TD Chance, PF (2004) Annals of Neurology — Vol. 55, no. 5, p. 713-20 (2004)
17. • Journal article

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    The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

    Irobi, J Van den Bergh, Peter[UCL] Merlini, L Dumoulin, Christine[UCL] Van Maldergem, L. Dierick, I Verpoorten, N Jordanova, A. Windpassinger, C De Vriendt, E Van Gerwen, V Auer-Grumbach, M Wagner, K. Timmerman, V De Jonghe, P. (2004) Brain : a journal of neurology — Vol. 127, no. Pt 9, p. 2124-30 (2004)
18. • Journal article

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    New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation

    Yanagisawa, A. Boucher, C. Van den Bergh, Peter[UCL] Cuisset, J. -M.[UCL] Viollet, L. Leturcq, F. Romero, N. B. Quijano-Roy, S. Fardeau, M. Sera, N. Guicheney, P. (2007) Neurology — Vol. 69, no. 12, p. 1254-60 (2007)
19. • Journal article

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    Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6

    Matthews, Randolph P Plumb-Rudewiez, Nicolas[UCL] Lorent, Kristin Gissen, Paul Johnson, Colin A Lemaigre, Frédéric[UCL] Pack, Michael (2005) Development (Cambridge) — Vol. 132, no. 23, p. 5295-5306 (2005)
20. • Journal article

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    Renal phenotype of the cystinosis mouse model is dependent upon genetic background

    Nevo, Nathalie Chol, Marie Bailleux, Anne Kalatzis, Vasiliki Morisset, Ludivine Devuyst, Olivier[UCL] Gubler, Marie-Claire Antignac, Corinne (2010) Nephrology, Dialysis, Transplantation — Vol. 25, no. 4, p. 1059-1066 (2010)
21. • Journal article

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    The paradoxical association between inherited factor VII deficiency and venous thrombosis

    Marty, S. Barro, C. Chatelain, Bernard[UCL] Fimbel, B. Tribout, B. Reynaud, J. Schved, J. -F. Giansily-Blaizot, M. (2008) Haemophilia — Vol. 14, no. 3, p. 564-70 (2008)
22. • Journal article

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    Dent's disease

    Devuyst, Olivier[UCL] Thakker, Rajesh V. (2010) Orphanet Journal of Rare Diseases — Vol. 5, p. 28 (2010)
23. • Journal article

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    Genotypic evaluation of etravirine sensitivity of clinical human immunodeficiency virus type 1 (HIV-1) isolates carrying resistance mutations to nevirapine and efavirenz.

    Oumar, A A Jnaoui, Karima[UCL] Kabamba-Mukadi, Benoît[UCL] Yombi, Jean Cyr[UCL] Vandercam, Bernard[UCL] Goubau, Patrick[UCL] Ruelle, Jean[UCL] (2010) Acta Clinica Belgica (Multilingual Edition) — Vol. 65, no. 4, p. 242-444 (2010)
24. • Journal article

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    Prenatal diagnosis in CDG1 families: beware of heterogeneity

    Matthijs, G. Schollen, E. Cassiman, JJ. Cormier-Daire, V Jaeken, J. Van Schaftingen, Emile[UCL] (1998) European Journal of Human Genetics — Vol. 6, no. 2, p. 99-104 (1998)
25. • Journal article

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    Identification of Mutations in the Alpha3(IV) and Alpha4(IV) Collagen Genes in Autosomal Recessive Alport Syndrome

    Mochizuki, Toshio Lemmink, Henny H. Mariyama, Mariko Antignac, Corinne Gubler, Marie-Claire Pirson, Yves[UCL] Dumoulin, Christine[UCL] Chan, Belinda Schroder, Cornelis H. Smeets, Hubert J. Reeders, Stephen T. (1994) Nature Genetics — Vol. 8, no. 1, p. 77-81 (1994)

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