Menu utilisateur

Accès à distance ? S'identifier sur le proxy UCLouvain

Rechercher

Affichage: 1 - 25 sur 117 résultats.

Pages

    • Article de périodique
    Délétion du bras long du chromosome 18, hypothyroïdie primaire, anémie de Biermer et hypogammaglobulinémie de type IgM.
    Henrot, B. Ninane, J. Mercenier, C.[UCL] Vermylen, Christiane[UCL] Dumoulin, Christine[UCL] Cornu, Guy[UCL] Malvaux, Paul[UCL] (1989) Archives françaises de pédiatrie — Vol. 46, no. 10, p. 729-732 (1989)
    • Article de périodique
    The value of interphase fluorescence in situ hybridization for the detection of translocation t(12;21) in childhood acute lymphoblastic leukemia.
    Ameye, Geneviève[UCL] Jacquy, C Zenebergh, A. Stul, M. Vaerman, Jean-Pierre[UCL] Bilhou-Nabera, C. Libouton, Jeanne-Marie[UCL] Deneys, Véronique[UCL] Martiat, P. Hagemeijer, Anne[UCL] Cornu, Guy[UCL] Dumoulin, Christine[UCL] Michaux, Lucienne[UCL] (2000) Annals of hematology — Vol. 79, no. 5, p. 259-68 (2000)
    • Article de périodique
    Leiomyoma of the suprarenal gland in a child with ataxia-telangiectasia.
    Mouchet, F Ninane, J. Gosseye, Serge[UCL] Dumoulin, Christine[UCL] Bonnier, Christine Evrard, Philippe[UCL] Vermylen, Christiane[UCL] Scheiff, Jean-Marie[UCL] Cornu, Guy[UCL] (1991) Pediatric hematology and oncology — Vol. 8, no. 3, p. 235-41 (1991)
    • Article de périodique
    Réanimation postopératoire et tratiement diététique au long cours dans un cas de résection étendue de l'intestin chez l'enfant
    Otte, Jean-Bernard[UCL] Fiasse, René[UCL] Cornu, Guy[UCL] Dumoulin, Christine[UCL] (1974) Acta paediatrica Belgica — Vol. 28, no. 1, p. 40-8 (1974)
    • 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)
    • 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
    Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds
    Walon, Corinne[UCL] Kartheuser, Alex[UCL] Michils, Geneviève[UCL] Smaers, Michèle[UCL] Lannoy, Nathalie[UCL] Ngounou, Patrick[UCL] Mertens, Guy[UCL] Dumoulin, Christine[UCL] (1997) Human Genetics — Vol. 100, no. 5-6, p. 601-605 (1997)
    • Article de périodique
    Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management
    Sluysmans, Thierry[UCL] Tuerlinckx, David[UCL] Hubinont, Corinne[UCL] Dumoulin, Christine[UCL] Brivet, M. Vianey-Saban, C. (1997) The Journal of Pediatrics — Vol. 131, no. 3, p. 444-446 (1997)
    • Article de périodique
    Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique
    Jeandidier, E Michaux, Lucienne[UCL] Dastugue, N. Mugneret, Francine Lafage-Pochitaloff, M. Mozziconacci, Marie-Joëlle Herens, C. Dumoulin, Christine[UCL] Talmant, P. Cornillet-Lefebvre, P. Luquet, I. Charrin, C. Barin, C. Collonge-Rame, MA Perot, C. Van den Akker, J. Gregoire, MJ Jonveaux, P. Baranger, L. Eclache-Saudreau, V Pages, MP. Cabrol, C. Terre, C. Berger, R. (2006) Cancer Genetics and Cytogenetics — Vol. 166, no. 1, p. 1-11 (2006)
    • 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
    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)
    • 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
    Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.
    Marchand, Eric[UCL] Dumoulin, Christine[UCL] Mairesse, M. Delaunois, Luc[UCL] Brancaleone, P Rahier, Jean-François[UCL] Vandenplas, Olivier[UCL] (2001) Chest : the cardiopulmonary and critical care journal — Vol. 119, no. 3, p. 762-767 (2001)
    • 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)
    • Article de périodique
    Trisomy 16 as the sole anomaly in hematological malignancies. Three new cases and a short review.
    Guillaume, Benoît[UCL] Ameye, Geneviève[UCL] Dierlamm, J. Verhoef, G. Duhem, C Ferrant, Augustin[UCL] Hagemeijer, Anne[UCL] Dumoulin, Christine[UCL] Michaux, Lucienne[UCL] (2001) Cancer genetics and cytogenetics — Vol. 128, no. 2, p. 168-71 (2001)
    • Article de périodique
    Autosomal dominant polycystic kidney disease in the first year of life. Report of a case with no family history.
    Stalens, J P Sokal, Etienne[UCL] Walon, C. Dumoulin, Christine[UCL] Clapuyt, Philippe[UCL] Wese, François-Xavier[UCL] (1993) Acta urologica Belgica — Vol. 61, no. 4, p. 25-8 (1993)
    • Article de périodique
    High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient
    Daumerie, Chantal[UCL] Lannoy, Nathalie[UCL] Squifflet, Jean-Paul[UCL] Verellen, Gaston[UCL] Dumoulin, Christine[UCL] (1994) Journal of Medical Genetics — Vol. 31, no. 11, p. 891-892 (1994)
    • Article de périodique
    Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case report.
    De Vos, M Nuytinck, L. Dumoulin, Christine[UCL] De Paepe, A. (1999) Fetal Diagnosis and Therapy : clinical advances and basic research — Vol. 14, no. 4, p. 244-247 (1999)
    • Article de périodique
    Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies : identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function
    van Scherpenzeel Thim, Virginie Remacle, Sophie[UCL] Picard, Jacques[UCL] Cornu, Guy[UCL] Gofflot, Françoise Rezsohazy, René[UCL] Dumoulin, Christine[UCL] (2005) Human Mutation — Vol. 25, no. 4, p. 384-95 (2005)
    • Article de périodique
    New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector.
    Roest, P A Bakker, E Fallaux, F J Dumoulin, Christine[UCL] Murry, C E den Dunnen, J T (1999) Lancet (London, England) — Vol. 353, no.9154, p. 727-728 (1999)
    • Article de périodique
    A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease.
    Almqvist, Elisabeth W. Bloch, Maurice Brinkman, Ryan Craufurd, David Hayden, Michael R. Huntington disease collaborative group Dumoulin, Christine[UCL] (1999) American Journal of Human Genetics — Vol. 64, no.5, p. 1293-1304 (1999)
    • Article de périodique
    Hypodiploidy is a major prognostic factor in multiple myeloma.
    Smadja, N V Bastard, C Brigaudeau, C Leroux, D Fruchart, C Groupe Français de Cytogénétique Hématologique Michaux, Lucienne[UCL] Libouton, J.M.[UCL] Dumoulin, Christine[UCL] Scheiff, Jean-Marie[UCL] Deneys, Véronique[UCL] Ferrant, Augustin[UCL] (2001) Blood — Vol. 98, no.7, p. 2229-2238 (2001)
    • Article de périodique
    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)
    • Article de périodique
    Very-long-chain acyl-CoA dehydrogenase deficiency in two siblings : good evolution after prenatal diagnosis and prompt management
    Sluysmans, Thierry[UCL] Tuerlinckx, David[UCL] Hubinont, Corinne[UCL] Dumoulin, Christine[UCL] Brivet, M. Vianey-Saban, C. (1997) Mini Acta — Vol. 29, no.3, p. 183-188 (1997)
    • Article de périodique
    Chorea-acanthocytosis: genetic linkage to chromosome 9q21
    Rubio, Justin P. Danek, Adrian Stone, Caroline Chalmers, Richard Wood, Nicholas Dumoulin, Christine[UCL] Ferrer, Xavier Malandrini, Alessandro Fabrizi, Gian M. Manfredi, Michela Vance, Jefferey Pericak-Vance, Margaret Brown, Robert Rudolf, Gabrielle Picard, Fabienne Alonso, Elisa Brin, Mitchell Németh, Andrea H. Farrall, Martin Monaco, Anthony P. (1997) American Journal of Human Genetics — Vol. 61, no.4, p. 899-908 (1997)

Pages