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Affichage: 15 résultats.
    • Article de périodique
    Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies.
    Göhring, Ina Tagariello, Andreas Endele, Sabine Stolt, Claus C Ghassibé, Michella[UCL] Fisher, Malcolm Thiel, Christian T. Trautmann, Udo Vikkula, Miikka[UCL] Winterpacht, Andreas FitzPatrick, David R. Rauch, Anita (2009) Journal of medical genetics — Vol. 47, no. 2, p. 91-8 (2010)
    • Article de périodique
    Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
    Brouillard, Pascal[UCL] Ghassibé, Michella[UCL] Penington, A Boon, Laurence M.[UCL] Dompmartin, Anne[UCL] Temple, I K Cordisco, M Adams, D. Piette, F Harper, J I Syed, S Boralevi, F Taïeb, A Danda, S Baselga, E Enjolras, O Mulliken, J B Vikkula, Miikka[UCL] (2005) Journal of medical genetics — Vol. 42, no. 2, p. e13 (2005)
    • Article de périodique
    Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")
    Brouillard, Pascal[UCL] Boon, Laurence M.[UCL] Mulliken, John B. Enjolras, Odile Ghassibé, Michella[UCL] Warman, Matthew L. Tan, O. T. Olsen, Bjorn R. Vikkula, Miikka[UCL] (2002) American Journal of Human Genetics — Vol. 70, no. 4, p. 866-874 (2002)
    • 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
    An autosomal recessive hypophosphatemic disorder caused by homozygous mutations in dentin matrix protein 1 (DMP1).
    Bastepe, M. Lorenz-Depiereux, B. Bennet-Pages, A. Ghassibé, Michella[UCL] Wagenstaller, J. Mueller-Barth, U. Badenhoop, K. Rittmaster, R. Shlossberg, A. Olivares, J. Ramos, F. Vikkula, Miikka[UCL] Strom, T. Jueppner, H. (2006) 28th Annual Meeting of the American-Society-for-Bone-and-Mineral-Research — Philadelphia(Pa)
    • Article de périodique
    FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
    Ghassibé, Michella[UCL] Desmyter, Laurence Langenberg, Tobias Claes, Filip Boute, Odile Bayet, Bénédicte[UCL] Pellerin, Philippe Hermans, Karlien Backx, Liesbeth Mansilla, Maria Adela Imoehl, Sandra Nowak, Stefanie Ludwig, Kerstin U Baluardo, Carlotta Ferrian, Melissa Mossey, Peter A Noethen, Markus Dewerchin, Mieke François, Geneviève Revencu, Nicole Vanwijck, Romain Hecht, Jacqueline Mangold, Elisabeth Murray, Jeffrey Rubini, Michele Vermeesch, Joris R Poirel, Hélène[UCL] Carmeliet, Peter Vikkula, Miikka (2011) American Journal of Human Genetics — Vol. 88, no. 2, p. 150-161 (2011)
    • Article de périodique
    Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.
    Ghassibé, Michella[UCL] Bayet, Benedicte Revencu, Nicole Dumoulin, Christine[UCL] Gillerot, Yves Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] (2005) European journal of human genetics : EJHG — Vol. 13, no. 11, p. 1239-42 (2005)
    • Article de périodique
    Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
    Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Bayet, Bénédicte[UCL] Gillerot, Yves[UCL] Vanwijck, Romain[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2004) Journal of Medical Genetics — Vol. 41, no. 2, p. 1-5 (2004)
    • Article de périodique
    A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.
    Ghassibé, Michella[UCL] Bernier, Vincent Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2006) European Journal of Pediatrics — Vol. 165, no. 10, p. 734-735 (2006)
    • Article de périodique
    Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.
    Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Bayet, Bénédicte[UCL] Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2003) Human genetics — Vol. 113, no. 6, p. 556-558 (2003)
    • Communication
    Inherited glomuvenous malformations are caused by the combination of a germline and a somatic "second hit" mutation in the glomulin gene
    Brouillard, Pascal[UCL] Boon, Laurence M.[UCL] Ghassibé, Michella[UCL] Enjolras, O Mulliken, J Vikkula, Miikka[UCL] (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG (France)
    • Communication
    Identification of novel glomulin gene mutations responsible for inherited glomuvenous malformations (glomangiomas).
    Brouillard, Pascal[UCL] Ghassibé, Michella[UCL] Boon, Laurence M.[UCL] Penington, A Enjolras, O Mulliken, JB Vikkula, Miikka[UCL] (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE (Maryland)
    • Communication
    Somatic second hit-hypothesis is true for glomuvenous malformations.
    Brouillard, Pascal[UCL] Boon, Laurence M.[UCL] Enjolras, O Ghassibé, Michella[UCL] Mulliken, JB Vikkula, Miikka[UCL] (2001) —
    • Article de périodique
    Orofacial clefting: update on the role of genetics.
    Ghassibé, Michella[UCL] Bayet, Bénédicte[UCL] Revencu, Nicole[UCL] Desmyter, Laurence[UCL] Dumoulin, Christine[UCL] Gillerot, Yves[UCL] Deggouj, Naima[UCL] Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] (2006) B-ENT — Vol. 2 Suppl 4, p. 20-4 (2006)
    • Article de périodique
    IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign.
    Desmyter, Laurence[UCL] Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Boute, O Lees, M François, Geneviève[UCL] Dumoulin, Christine[UCL] Sznajer, Yves[UCL] Moncla, A Benateau, H. Claes, K Devriendt, Koenraad Mathieu, M. Van Maldergem, L. Addor, M.-C. Drouin-Garraud, V Mortier, G. Bouma, M Dieux-Coeslier, A Genevieve, D Goldenberg, A Gozu, A Makrythanasis, P McEntagart, U Sanchez, A. Vilain, C. Vermeer, S Connell, F Verheij, J Manouvrier, S Pierquin, G. Odent, S Holder-Espinasse, M Vincent-Delorme, C Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2010) Molecular Syndromology — Vol. 1, no. 2, p. 67-74 (2010)