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Affichage: 24 résultats.
    • 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
    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)
    • 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
    Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.
    Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2020) Haemophilia — Vol. 26, no.3, p. 375-383 (2020)
    • Article de périodique
    Inhibitor epidemiology and genetic-related risk factors in people with haemophilia from Côte d'Ivoire.
    Lambert, Catherine[UCL] Lannoy, Nathalie[UCL] Meité, N'Dogomo Sanogo, Ibrahima Eeckhoudt, Stéphane[UCL] Hermans, Cédric[UCL] (2020) Haemophilia — Vol. 26, no. 1, p. 79-85 (2020)
    • Article de périodique
    Incidental finding of unreported large duplication in F8 gene during prenatal analysis: Which management for genetic counselling?
    Lannoy, Nathalie[UCL] Lambert, Catherine[UCL] Van Damme, An[UCL] Hermans, Cédric[UCL] (2019) Thrombosis Research — Vol. 182, p. 39-42 (2019)
    • Article de périodique
    Accessibility and visibility of genetic testing for haemophilia across Europe: Where do we stand?
    Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2023) Haemophilia — Vol. 29, no.1, p. 256-273 (2023)
    • Article de périodique
    Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
    Lannoy, Nathalie[UCL] Lambert, Catherine[UCL] Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2015) Thrombosis Research : vascular obstruction, hemorrhage and hemostasis — Vol. 135, no. 6, p. 1057-1063 (2015)
    • Communication
    Proposition for a multi-step mutation detection in haemophilia A
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Verellen-Dumoulin, Christine[UCL] Vermylen, Christiane[UCL] Hermans, Cédric[UCL] Dahan, Karin[UCL] (2007) XXI Congress of the International Society on Thrombosis and Haemostasis — (Switzerland) Geneva
    • Article de périodique
    Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B.
    Boban, Ana Lambert, Catherine[UCL] Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2017) Haemophilia — Vol. 23, no.5, p. e471-e473 (2017)
    • Communication
    Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and B
    Boban, Ana Lannoy, Nathalie[UCL] Lambert, Catherine[UCL] Hermans, Cédric[UCL] (2015) XXV Congress of the International Society on Thrombosis and Haemostasis, June 20–25, 2015 — (Canada) Toronto
    • Communication
    Mutations screening in Belgium patients with haemophilia A: identification of 28 new genetic alterations and study of causal effect of 15 unreported missense mutations
    Lannoy, Nathalie Lambert, Catherine[UCL] Vermylen, Christiane[UCL] Hermans, Cédric[UCL] (2011) 4th Annual Congress of the European Association for Haemophilia and Allied Disorders — (Switzerland) Geneva
    • Article de périodique
    Usual and unusual mutations in a cohort of Belgian patients with hemophilia B.
    Lannoy, Nathalie[UCL] Lambert, Catherine[UCL] Farrugia, Albert Van Damme, An[UCL] Hermans, Cédric[UCL] (2017) Thrombosis Research : vascular obstruction, hemorrhage and hemostasis — Vol. 149, p. 25-28 (2017)
    • Communication
    Efficiency of haemophilia carrier detection: a single centre retrospective study
    Vantilborgh, Anna Lannoy, Nathalie[UCL] Dahn, K.[UCL] Lambert, Catherine[UCL] Hermans, Cédric[UCL] (2008) XXVIIIth International Congress of the World Federation of Hemophilia — (Turkey ) Istanbul
    • Communication
    Detection of large rearrangements by MLPA in severe hemophilia A patients
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Lambert, Catherine[UCL] Vermylen, Christiane[UCL] Dahan, Karin[UCL] Hermans, Cédric[UCL] (2009) XXII Congress of the International Society of Thrombosis and Haemostasis — (United States) Boston, MA
    • Article de périodique
    Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Bosmans, Arnaud[UCL] Lambert, Catherine[UCL] Vermylen, Christiane[UCL] Hermans, Cédric[UCL] (2012) Haemophilia : the official journal of the World Federation of Hemophilia — Vol. 18, no. 3, p. e331-e339 (2012)
    • Article de périodique
    Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.
    Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2018) Haemophilia : the official journal of the World Federation of Hemophilia — Vol. 24, no.5, p. 711-719 (2018)
    • Article de périodique
    Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
    Lannoy, Nathalie[UCL] Grisart, Bernard Eeckhoudt, Stéphane[UCL] Dumoulin, Christine[UCL] Lambert, Catherine[UCL] Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2013) European Journal of Human Genetics — Vol. 21, no. 9, p. 970–976 (2013)
    • Article de périodique
    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)
    • Article de périodique
    Thérapie génique en 2017 : état des lieux et perspectives
    Lannoy, Nathalie[UCL] Hermans, Cédric[UCL] (2017) Louvain médical — Vol. 136, no.1, p. 1-8 (2017)
    • Thèse
    Molecular analysis of simple and complex genetic variants in a cohort of patients with hemophilia A : mechanisms and diagnostic implications
    Lannoy, Nathalie[UCL] (2015)
    • Article de périodique
    Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.
    Lannoy, Nathalie[UCL] Ravoet, Marie[UCL] Grisart, Bernard Fretigny, Mathilde Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2016) Thrombosis Research : vascular obstruction, hemorrhage and hemostasis — Vol. 137, no. 1, p. 224-227 (2016)
    • Article de périodique
    Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.
    Lannoy, Nathalie[UCL] Bandelier, Claude[UCL] Grisart, Bernard Reginster, Michel Ronge-Collard, Elisabeth Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2015) Haemophilia — Vol. 21, no. 4, p. 516-522 (2015)
    • Article de périodique
    Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update
    Persu, Alexandre[UCL] Lannoy, Nathalie[UCL] Maiter, Dominique[UCL] Mendola, Antonella[UCL] Montigny, Pauline[UCL] Oriot, Philippe Vinck, W. Garin, Pierre[UCL] Hamoir, Marc[UCL] Vikkula, Miikka[UCL] (2012) Hormone and Metabolic Research — Vol. 44, no. 5, p. 349-353 (2012)