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1. • Journal article

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   D175 discriminates between NADH and NADPH in the coenzyme binding site of Lactobacillus delbrueckii subsp. bulgaricus D-lactate dehydrogenase.

   Bernard, N. Johnsen, K Holbrook, J J Delcour, Jean[UCL] (1995) Biochemical and biophysical research communications — Vol. 208, no. 3, p. 895-900 (1995)
2. • Journal article

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   Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.

   Assink, Karin Schiphorst, Rikke Allford, Sarah Karpman, Diana Etzioni, Amos Brichard, Bénédicte[UCL] van de Kar, Nicole Monnens, Leo van den Heuvel, Lambertus (2003) Kidney international — Vol. 63, no. 6, p. 1995-9 (2003)
3. • Journal article

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   Prevalence and mechanisms of resistance to fluoroquinolones in Helicobacter pylori strains from patients living in Belgium.

   Bogaerts, Pierre Berhin, Catherine Nizet, Henri Glupczynski, Gerald[UCL] (2006) Helicobacter — Vol. 11, no. 5, p. 441-5 (2006)
4. • Journal article

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   Hyperhomocysteinemia and venous thromboembolism: a risk factor more prevalent in the elderly and in idiopathic cases.

   Hainaut, Philippe[UCL] Jaumotte, Carine Verhelst, David Wallemacq, Pierre[UCL] Gala, Jean-Luc[UCL] Lavenne, Edith Heusterspreute, Michel Zech, Francis[UCL] Moriau, Maurice[UCL] (2002) Thrombosis research — Vol. 106, no. 2, p. 121-5 (2002)
5. • Journal article

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   Sulphate removal induces a major conformational change in Leishmania mexicana pyruvate kinase in the crystalline state

   Tulloch, Lindsay B. Morgan, Hugh P. Hannaert, Véronique[UCL] Michels, Paulus[UCL] Fothergill-Gilmore, Linda A. Walkinshaw, Malcolm D. (2008) Journal of Molecular Biology — Vol. 383, no. 3, p. 615-626 (2008)
6. • Journal article

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   Single point mutations in various domains of a plant plasma membrane H(+)-ATPase expressed in Saccharomyces cerevisiae increase H(+)-pumping and permit yeast growth at low pH.

   Morsomme, Pierre[UCL] de Kerchove d'Exaerde, A De Meester, S Thinès, D Goffeau, André[UCL] Boutry, Marc[UCL] (1996) The EMBO journal — Vol. 15, no. 20, p. 5513-26 (1996)
7. • Journal article

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   A CASP-8 mutation recognized by cytolytic T lymphocytes on a human head and neck carcinoma

   Mandruzzato, Susanna Brasseur, Francis[UCL] Andry, Guy Boon-Falleur, Thierry[UCL] Van Der Bruggen, Pierre[UCL] (1997) The Journal of Experimental Medicine — Vol. 186, no. 5, p. 785-793 (1997)
8. • Journal article

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   Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy

   Lehtokari, Vilma-Lotta Pelin, Katarina Sandbacka, Maria Ranta, Salla Donner, Kati Muntoni, Francesco Sewry, Caroline Angelini, Corrado Bushby, Kate Van den Bergh, Peter[UCL] Iannaccone, Susan Laing, Nigel G. Wallgren-Pettersson, Carina (2006) Human Mutation — Vol. 27, no. 9, p. 946-56 (2006)
9. • Journal article

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   Genetic screening in Saccharomyces cerevisiae for large numbers of mitochondrial point mutations which affect structure and function of catalytic subunits of cytochrome-c oxidase.

   Meunier, B. Lemarre, P Colson, A M (1993) European journal of biochemistry / FEBS — Vol. 213, no. 1, p. 129-35 (1993)
10. • 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)
11. • Journal article

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    Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

    Carle, Thomas Lhuillier, Loïc Luce, Sandrine Sternberg, Damien Devuyst, Olivier[UCL] Fontaine, Bertrand Tabti, Nacira (2006) Biochemical and biophysical research communications — Vol. 348, no. 2, p. 653-61 (2006)
12. • Journal article

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    An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor.

    Staerk, Judith[UCL] Lacout, Catherine Sato, Takeshi Smith, Steven O. Vainchenker, William Constantinescu, Stefan N.[UCL] (2006) Blood — Vol. 107, no. 5, p. 1864-71 (2006)
13. • Journal article

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    Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency

    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Dahan, Karin[UCL] Hermans, Cédric[UCL] (2009) Haemophilia — Vol. 15, no. 3, p. 797-801 (2009)
14. • Journal article

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    Expression of prostate-specific antigen and prostate-specific membrane antigen transcripts in blood cells: implications for the detection of hematogenous prostate cells and standardization.

    Gala, Jean-Luc[UCL] Heusterspreute, M. Loric, S Hanon, F. Tombal, Bertrand[UCL] Van Cangh, Paul[UCL] De Nayer, Philippe[UCL] Philippe, Marianne[UCL] (1998) Clinical chemistry — Vol. 44, no. 3, p. 472-81 (1998)
15. • Journal article

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    Single point mutations distributed in 10 soluble and membrane regions of the Nicotiana plumbaginifolia plasma membrane PMA2 H+-ATPase activate the enzyme and modify the structure of the C-terminal region.

    Morsomme, Pierre[UCL] Dambly, S Maudoux, O Boutry, Marc[UCL] (1998) The Journal of biological chemistry — Vol. 273, no. 52, p. 34837-42 (1998)
16. • Journal article

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    An antigen recognized by autologous CTLs on a human bladder carcinoma

    Guéguen, Maryse[UCL] Patard, Jean-Jacques[UCL] Gaugler, Béatrice[UCL] Brasseur, Francis[UCL] Renauld, Jean-Christophe[UCL] Van Cangh, Paul[UCL] Boon, Thierry[UCL] Van den Eynde, Benoît[UCL] (1998) Journal of Immunology — Vol. 160, no. 12, p. 6188-6194 (1998)
17. • Journal article

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    Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.

    Suomalainen, A. Kollmann, P. Octave, Jean-Noël[UCL] Söderlund, H. Syvänen, A. C. (1993) European journal of human genetics : EJHG — Vol. 1, no. 1, p. 88-95 (1993)
18. • Journal article

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    Promoter function of the human glucose-6-phosphate dehydrogenase gene depends on two GC boxes that are cell specifically controlled

    Philippe, Marianne[UCL] Larondelle, Yvan[UCL] Lemaigre, Frédéric[UCL] Mariamé, Bernard Delhez, Huguette[UCL] Mason, Philip Luzzatto, Lucio Rousseau, Guy[UCL] (1994) European Journal of Biochemistry — Vol. 226, no. 2, p. 377-384 (1994)
19. • Journal article

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    Existe-t-il un lien entre hémochromatose secondaire et génétique? A propos de deux cas.

    Paris, Isabelle[UCL] Dahan, Karin[UCL] van Ypersele, M[UCL] Rahier, Jacques[UCL] Michaux, Lucienne[UCL] Buysschaert, Martin[UCL] (1999) Acta clinica Belgica — Vol. 54, no. 1, p. 26-9 (1999)
20. • Journal article

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    The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

    De Jonghe, P Timmerman, V Ceuterick, C Nelis, E De Vriendt, E Löfgren, A Vercruyssen, A Dumoulin, Christine[UCL] Van Maldergem, L Martin, J J Van Broeckhoven, C (1999) Brain : a journal of neurology — Vol. 122, p. 281-290 (1999)
21. • Journal article

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    Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits.

    Van Heetvelde, Mattias Van Bockstal, Mieke[UCL] Poppe, Bruce Lambein, Kathleen Rosseel, Toon Atanesyan, Lilit Deforce, Dieter Van Den Berghe, Ivo De Leeneer, Kim Van Dorpe, Jo Vral, Anne Claes, Kathleen B M (2018) Cancer letters — Vol. 425, p. 125-133 (2018)
22. • Journal article

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    Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

    Nuytinck, Lieve Wettinck, Karen Freund, Margarida[UCL] Van Maldergem, Lionel Fabry, Guy De Paepe, Anne (1997) European Journal of Human Genetics — Vol. 5, no. 3, p. 161-167 (1997)
23. • 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)
24. • Journal article

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    Precore mutant chronic hepatitis B in an autochthonous Belgian population: a study of ten patients.

    Kanyinda, J M Horsmans, Yves[UCL] Cornu, C. Geubel, André[UCL] (1995) Acta clinica Belgica — Vol. 50, no. 3, p. 144-8 (1995)
25. • Journal article

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    Le syndrome d'Alport à l'heure de la génétique moléculaire.

    Pirson, Yves[UCL] (1996) Bulletin et mémoires de l'Académie royale de médecine de Belgique — Vol. 151, no. 10-11, p. 447-52; discussion 452-3 (1996)

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