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1. • Journal article

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   The gene encoding rat 3-phosphoglycerate dehydrogenase.

   Robbi, Mariette[UCL] Achouri, Younes[UCL] Szpirer, C. Van Schaftingen, Emile[UCL] (2000) Mammalian genome : official journal of the International Mammalian Genome Society — Vol. 11, no. 11, p. 1034-6 (2000)
2. • Journal article

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   Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.

   Salerno, Teresa Peca, Donatella Menchini, Laura Schiavino, Alessandra Petreschi, Francesca Occasi, Francesca Cogo, Paola Danhaive, Olivier[UCL] Cutrera, Renato (2014) Pediatric pulmonology — Vol. 49, no.3, p. E42-E44 (2014)
3. • Journal article

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   Absence of cross-toxicity between MET inhibitors in a non-small-cell lung cancer with a MET exon 14 skipping mutation.

   Vanderick, Ariane[UCL] Colinet, Benoît (2024) Acta clinica Belgica — Vol. 79, no.2, p. 148-151 (2024)
4. • Journal article

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   A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

   Rampoldi, L Dobson-Stone, C Rubio, J P Danek, A Chalmers, R M Wood, N W Dumoulin, Christine[UCL] Ferrer, X Malandrini, A Fabrizi, G M Brown, R Vance, J Pericak-Vance, M Rudolf, G Carrè, S Alonso, E Manfredi, M Németh, A H Monaco, A P (2001) Nature genetics — Vol. 28, no.2, p. 119-120 (2001)
5. • Journal article

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   Alternative promoters of gene MAGE4a

   De Plaen, Etienne[UCL] Naerhuyzen, Bénédicte De Smet, Charles[UCL] Szikora, Jean-Pierre[UCL] Boon-Falleur, Thierry[UCL] (1997) Genomics — Vol. 40, no. 2, p. 305-313 (1997)
6. • Journal article

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   Structure of the gene of tum- transplantation antigen P35B: presence of a point mutation in the antigenic allele.

   Szikora, J P Van Pel, A Brichard, V André, M van Baren, Nicolas[UCL] Henry, P De Plaen, E Boon, T (1990) The EMBO journal — Vol. 9, no.4, p. 1041-50 (1990)
7. • Journal article

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   Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

   Bollée, Guillaume Dahan, Karin[UCL] Flamant, Martin Morinière, Vincent Pawtowski, Audrey Heidet, Laurence Lacombe, Didier Devuyst, Olivier[UCL] Pirson, Yves[UCL] Antignac, Corinne Knebelmann, Bertrand (2011) Clinical Journal of the American Society of Nephrology — Vol. 6, no. 10, p. 2429-38 (2011)
8. • 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)
9. • Journal article

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   Structure of the gene mutated in glycogen storage disease type Ib.

   Gerin, Isabelle[UCL] Veiga da Cunha, Maria[UCL] Noël, Gaëtane[UCL] Van Schaftingen, Emile[UCL] (1999) Gene — Vol. 227, no. 2, p. 189-195 (1999)
10. • Journal article

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    Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

    Verkarre, V Fournet, J C de Lonlay, P Gross-Morand, M S Devillers, Martine[UCL] Rahier, Jacques[UCL] Brunelle, F Robert, J J Nihoul-Fékété, C Saudubray, J M Junien, C. (1998) The Journal of clinical investigation — Vol. 102, no. 7, p. 1286-91 (1998)
11. • Journal article

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    Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.

    Eerola, Iiro[UCL] McIntyre, Brendan[UCL] Vikkula, Miikka[UCL] (2001) Biochimica et biophysica acta — Vol. 1517, no. 3, p. 464-7 (2001)
12. • Journal article

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    Characterization of distinct mRNAs coding for putative isozymes of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.

    Crepin, K M Darville, M I Hue, Louis[UCL] Rousseau, Guy[UCL] (1989) European journal of biochemistry / FEBS — Vol. 183, no. 2, p. 433-40 (1989)
13. • 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)
14. • Journal article

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    Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

    Ghalamkarpour, Arash[UCL] Morlot, S Raas-Rothschild, A Utkus, A Mulliken, J B Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2006) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 70, no. 4, p. 330-335 (2006)
15. • Journal article

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    The gene encoding disabled-1 (DAB1), the intracellular adaptor of the Reelin pathway, reveals unusual complexity in human and mouse.

    Bar, Isabelle Tissir, Fadel[UCL] Lambert de Rouvroit, Catherine De Backer, Olivier Goffinet, André[UCL] (2003) Journal of Biological Chemistry — Vol. 278, no.8, p. 5802-12 (2003)
16. • Journal article

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    5' flanking sequence and structure of a gene encoding rat 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.

    Darville, M I Crepin, K M Hue, Louis[UCL] Rousseau, Guy[UCL] (1989) Proceedings of the National Academy of Sciences of the United States of America — Vol. 86, no. 17, p. 6543-7 (1989)
17. • Journal article

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    Increased protein glycation in fructosamine 3-kinase-deficient mice

    Veiga da Cunha, Maria[UCL] Jacquemin, Patrick[UCL] Delpierre, Ghislain[UCL] Godfraind, Catherine[UCL] Théate, Ivan[UCL] Vertommen, Didier[UCL] Clotman, Frédéric[UCL] Lemaigre, Frédéric[UCL] Devuyst, Olivier[UCL] Van Schaftingen, Emile[UCL] (2006) The Biochemical Journal — Vol. 399, no. 2, p. 257-64 (2006)
18. • Journal article

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    Tibial muscular dystrophy in a Belgian family.

    Van den Bergh, Peter[UCL] Bouquiaux, Olivier Dumoulin, Christine[UCL] Marchand, Sylvie Richard, Isabelle Hackman, P Udd, Bjarne (2003) Annals of neurology — Vol. 54, no. 2, p. 248-51 (2003)
19. • Journal article

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    Human peroxiredoxin 5 gene organization, initial characterization of its promoter and identification of alternative forms of mRNA.

    Nguyên-Nhu, Nhu Tiên Berck, Jehanne Clippe, André[UCL] Duconseille, Elee Cherif, Hanane Boone, Christophe Van der Eecken, Valérie[UCL] Bernard, Alfred[UCL] Banmeyer, Ingrid[UCL] Knoops, Bernard[UCL] (2007) Biochimica et biophysica acta — Vol. 1769, no. 7-8, p. 472-83 (2007)
20. • Journal article

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    The 'royal disease'- haemophilia A or B? A haematological mystery is finally solved

    Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2010) Haemophilia — Vol. 16, no. 6, p. 843-847 (2010)
21. • Journal article

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    Structural analyses of the polymorphic area in type II collagen gene.

    Vikkula, Miikka[UCL] Peltonen, L (1989) FEBS letters — Vol. 250, no.2, p. 171-4 (1989)
22. • Journal article

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    Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.

    Vikkula, Miikka[UCL] Palotie, A Ritvaniemi, P Ott, J Ala-Kokko, L Sievers, U Aho, K Peltonen, L (1993) Arthritis and rheumatism — Vol. 36, no.3, p. 401-9 (1993)
23. • Journal article

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    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

    Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves[UCL] Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride (2019) Genetics in medicine — Vol. 21, no.8, p. 1761-1771 (2019)
24. • Journal article

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    A gene expressed exclusively in acute B lymphoblastic leukemias.

    Vialle-Castellano, Alexandra Dupont, Sophie[UCL] Michaux, Lucienne[UCL] Laduron, Sandra De Plaen, Etienne[UCL] Jost, Edgar Ameye, Geneviève[UCL] Coulie, Pierre G.[UCL] Olive, Daniel Boon, Thierry[UCL] van Baren, Nicolas[UCL] (2004) Genomics — Vol. 83, no. 1, p. 85-94 (2004)
25. • Journal article

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    Characterization of the GAGE genes that are expressed in various human cancers and in normal testis

    De Backer, Olivier[UCL] Arden, Karen C. Boretti, Mauro[UCL] Vantomme, Valérie[UCL] De Smet, Charles[UCL] Czekay, Suzanne Viars, Carrie S. De Plaen, Etienne[UCL] Brasseur, Francis[UCL] Chomez, Patrick[UCL] Van den Eynde, Benoît[UCL] Boon-Falleur, Thierry[UCL] van der Bruggen, Pierre[UCL] (1999) Cancer Research — Vol. 59, no. 13, p. 3157-3165 (1999)

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