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    • Article de périodique
    Mutations in GDAP1 - Autosomal recessive CMT with demyelination and axonopathy
    Nelis, E. Erdem, S Van den Bergh, Peter[UCL] Belpaire-Dethiou, MC[UCL] Ceuterick, C. Van Gerwen, V Cuesta, A Pedrola, L Palau, F Gabreels-Festen, AAWM Dumoulin, Christine[UCL] Tan, E Demirci, M Van Broeckhoven, C De Jonghe, P. Topaloglu, H Timmerman, V (2002) Neurology — Vol. 59, no. 12, p. 1865-1872 (2002)
    • 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
    Implications psychologiques des études familiales en biologie moléculaire. Un exemple: la myopathie de Duchenne.
    Hayez, Jean-Yves[UCL] Dumoulin, Christine[UCL] (1989) Journal de génétique humaine — Vol. 37, no. 1, p. 29-38 (1989)
    • Rapport de recherche
    Direct-to-consumer genetic testing services
    Borry, Pascal Poirel, Hélène[UCL] Baatout, Sarah Blaumeiser, Bettina Cassiman, Jean-Jacques de Thibault de Boesinghe, Léopold Fondu, Michel Godderis, Lode Haufroid, Vincent[UCL] Hulstaert, Frank Kirsch-Volders, Micheline Liebaers, Inge Loeys, Bart Poppe, Bruce Schamps, Geneviève[UCL] Van Larebeke, Nicolas Van Nerom, Anne Van Oyen, Herman Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2012)
    • Article de périodique
    Autosomal-dominant chronic interstitial nephritis with early hyperuricemia.
    Pirson, Yves[UCL] Loute, G. Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Dumoulin, Christine[UCL] (2000) Advances in nephrology from the Necker Hospital — Vol. 30, p. 357-369 (2000)
    • Chapitre
    Empreintes génétiques et recherche de paternité
    Dumoulin, Christine[UCL] Walon, C. Freund-Moldan, M. (1997) L'analyse génétique à des fins de preuve et les droits de l'homme : Aspects médico-scientifique, éthique et juridique — [ISBN : 2-8027-1034-6]
    • Article de périodique
    Polymicrogyria in chromosome 22q11 deletion syndrome.
    Ghariani, Sophie[UCL] Dahan, Karin[UCL] Saint-Martin, Christine[UCL] Kadhim, Hazim[UCL] Morsomme, Françoise[UCL] Moniotte, Stéphane[UCL] Dumoulin, Christine[UCL] Sébire, Guillaume[UCL] (2002) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society — Vol. 6, no. 1, p. 73-77 (2002)
    • Article de périodique
    CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.
    Persu, Alexandre[UCL] Devuyst, Olivier[UCL] Lannoy, N. Materne, R Brosnahan, G Gabow, P A Pirson, Yves[UCL] Dumoulin, Christine[UCL] (2000) Journal of the American Society of Nephrology : JASN — Vol. 11, no. 12, p. 2285-96 (2000)
    • Article de périodique
    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
    Ferreira de Lima, Renata Hoper, Sarah Ghassibé, Michella[UCL] Cooper, Margaret Rorick, Nicholas Kondo, Shinji Katz, Lori Marazita, Mary Compton, John Bale, Sherri Hehr, Ute Dixon, Michael Daack-Hirsch, Sandra Boute, Odile Bayet, Bénédicte[UCL] Revencu, Nicole[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] Richieri-Costa, Antônio Moretti-Ferreira, Danilo Murray, Jeffrey Schutte, Brian (2009) Genetics in Medicine — Vol. 11, no. 4, p. 241-247 (2009)
    • Communication
    Cytogenetic Findings in Primary Breast-cancer
    Dumoulin, Christine[UCL] Hamer, C. Demeyer, R. Dehemptinne, B. Fievet, C. Maisin, Henri[UCL] (1989) —
    • Article de périodique
    Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation.
    Kartheuser, Alex[UCL] Walon, Corinne[UCL] West, Sarah Breukel, Cor Detry, Roger[UCL] Gribomont, Anne-Catherine[UCL] Hamzehloei, Tayebeh Hoang, Pierre[UCL] Maiter, Dominique[UCL] Pringot, Jacques[UCL] Rahier, Jacques[UCL] Khan, Meera P. Curtis, Ann Burn, John Fodde, Riccardo Dumoulin, Christine[UCL] (1999) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 36, no. 1, p. 65-67 (1999)
    • Communication
    Mutations in the UMOD gene lead to abnormal expression of uromodulin in familial juvenile hyperuricemic nephropathy.
    Devuyst, Olivier[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] Cosyns, Jean-Pierre[UCL] Dumoulin, Christine[UCL] (2003) 36th Annual Meeting of the American-Society-of-Nephrology — SAN DIEGO (California)
    • Article de périodique
    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)
    • Communication
    Homozygous myotonic dystrophy clinical evaluation, molecular analyses and genetic counseling.
    Lannoy, N. Hubinont, Corinne[UCL] Dahan, Karin[UCL] Abinet, I. Freund, M. Van den Berghe, P Dumoulin, Christine[UCL] (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES (California)
    • Communication
    Dual color interphase FISH compared to RT-PCR and Southern blot for the detection of t(12;21) in childhood ALL
    Ameye, Geneviève[UCL] Michaux, Lucienne[UCL] Jacquy, C Zenebergh, A. Libouton, Jeanne-Marie[UCL] Martiat, P. Hagemeijer, Anne[UCL] Cornu, Guy[UCL] Dumoulin, Christine[UCL] (1998) —
    • Article de périodique
    [Study of the Sensitivity To Mutagens and of the Repair Process On Lymphocytes From the Werners Syndrome]
    Deknudt, G. Dumoulin, Christine[UCL] Léonard, Alain[UCL] (1985) Societe de Biologie et de Ses Filiales. Comptes Rendus des Seances — Vol. 179, no. 4, p. 518-521 (1985)
    • Communication
    Comparison of two culture media for routine conventional cytogenetic analysis in multiple myeloma and MGUS.
    Samani, KK Ferrant, Augustin[UCL] Michaux, Lucienne[UCL] Libouton, Jeanne-Marie[UCL] Dumoulin, Christine[UCL] (2000) —
    • Communication
    Mutations of the cystic fibrosis gene in patients with idiopathic chronic pancreatitis.
    Deprez, Pierre Henri[UCL] Hoang, Pierre[UCL] Piessevaux, Hubert[UCL] Geubel, André[UCL] Sokal, Etienne[UCL] Hormans, Y Ferec, C Dumoulin, Christine[UCL] (1999) —
    • Communication
    Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are associated with axonal or demyelinating recessive Charcot-Marie-Tooth disease (CMT).
    Nelis, E. Erdem, S Belpaire-Dethiou, MC Cuesta, A Pedrola, L Dumoulin, Christine[UCL] De Jonghe, P. Palau, F Van den Bergh, Peter[UCL] Tan, E Topaloglu, H Timmerman, V (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
    • Communication
    Phenotype and differential diagnosis of a neonatal Marfan syndrome due to a new FBN-1 exon 25 mutation
    Revencu, Nicole[UCL] Verellen, Gaston[UCL] Quenum, G Thim, VVS Collard, L De Paepe, A. Dumoulin, Christine[UCL] (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG (France)
    • Article de périodique
    Congenital ring-constriction syndrome of the limbs; a report of 19 cases.
    Rossillon, D. Rombouts, Jean-Jacques[UCL] Dumoulin, Christine[UCL] Vanwijck, Romain[UCL] Vincent, André[UCL] de Coninck, A (1988) British journal of plastic surgery — Vol. 41, no. 3, p. 270-7 (1988)
    • Article de périodique
    Eye Anomalies and Ocular Motor Disorders in the Oral-facial-digital Syndrome Type-ii
    Spiritus, Micheline[UCL] Verellen, Gaston[UCL] Waterschoot, MP. Bottu, J. Lepolain, D. Dumoulin, Christine[UCL] (1987) Neuro-Ophthalmology — Vol. 7, no. 4, p. 223-226 (1987)
    • Article de périodique
    The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)
    Claes, Kathleen Dahan, Karin Tejpar, S. De Paepe, Anne Bonduelle, Maryse Abramowicz, Marc Dumoulin, Christine[UCL] Franchimont, Denis Van Cutsem, Eric Kartheuser, Alex[UCL] (2011) Acta Gastro-Enterologica Belgica (Multilingual Edition) — Vol. 74, no. 3, p. 421-426 (2011)
    • Article de périodique
    Evidence for a Relationship Between Ehlers-danlos Type-vii-c in Humans and Bovine Dermatosparaxis
    Nusgens, BV. Dumoulin, Christine[UCL] Hermannsle, T. Depaepe, A. Nuytinck, L. Piérard, G. E. Lapiere, CM. (1992) Nature Genetics — Vol. 1, no. 3, p. 214-217 (1992)
    • Article de périodique
    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Windpassinger, C Van den Bergh, Peter[UCL] Auer-Grumbach, M Irobi, J Patel, H Petek, E Horl, G Malli, R Reed, JA Dierick, I Verpoorten, N Warner, TT Proukakis, C Dumoulin, Christine[UCL] Van Maldergem, L. Merlini, L De Jonghe, P. Timmerman, V Crosby, AH Wagner, K. (2004) Nature Genetics — Vol. 36, no. 3, p. 271-6 (2004)

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