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Displaying 1 - 25 of 137 results.

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    • Journal article
    Routine use of gene panel testing in hereditary breast cancer should be performed with caution
    van Marcke, Cédric[UCL] De Leener, Anne[UCL] Berlière, Martine[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2017) CRC Critical Reviews in Oncology - Hematology — Vol. x, no.x, p. x (2017)
    • Journal article
    Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.
    Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Vikkula, Miikka[UCL] (2004) Archives of dermatology — Vol. 140, no. 8, p. 971-6 (2004)
    • Journal article
    Vascular pathologies. Angiogenomics: towards a genetic nosology and understanding of vascular anomalies
    Vikkula, Miikka[UCL] (2007) European Journal of Human Genetics — Vol. 15, no. 8, p. 821-822 (2007)
    • Journal article
    Association of localized intravascular coagulopathy with venous malformations
    Dompmartin, Anne[UCL] Acher, Aurélie Thibon, Pascal Tourbach, Sébastien[UCL] Hermans, Cédric[UCL] Deneys, Véronique[UCL] Pocock, Ben[UCL] Lequerrec, Agnès Labbé, Daniel Barrellier, Marie-Thérèse Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] (2008) Archives of Dermatology — Vol. 144, no. 7, p. 873-877 (2008)
    • Journal article
    Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia
    Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Pierrot, Nathalie[UCL] Collard, François[UCL] Amyere, Mustapha[UCL] Noël, Gaëtane[UCL] Desmedt, Jonathan[UCL] Nassogne, Marie-Cécile[UCL] Vikkula, Miikka[UCL] Octave, Jean-Noël[UCL] Vincent, Marie-Françoise[UCL] Courtoy, Pierre J.[UCL] Boltshauser, Eugen Van Schaftingen, Emile[UCL] (2010) Biochemical Journal — Vol. 425, no. 1, p. 127-136 (2010)
    • Journal article
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Cordisco, Maria Rosa Burrows, Patricia E Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dubois, Josée Baselga, Eulalia Brancati, Francesco Carder, Robin Quintal, José Miguel Ceballos Dallapiccola, Bruno Fischer, Gayle Frieden, Ilona J Garzon, Maria Harper, John Johnson-Patel, Jennifer Labrèze, Christine Martorell, Loreto Paltiel, Harriet J Pohl, Annette Prendiville, Julie Quere, Isabelle Siegel, Dawn H Valente, Enza Maria Van Hagen, Annet Van Hest, Liselot Vaux, Keith K Vicente, Asuncion Weibel, Lisa Chitayat, David Vikkula, Miikka[UCL] (2008) Human Mutation — Vol. 29, no. 7, p. 959-965 (2008)
    • Journal article
    Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
    Gutierrez-Roelens, Ilse[UCL] Sluysmans, Thierry[UCL] Gewillig, Marc Devriendt, Koen Vikkula, Miikka[UCL] (2002) Human Mutation — Vol. 20, no. 1, p. 75-81 (2002)
    • Journal article
    Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2.
    Ghalamkarpour, Arash Debauche, Christian[UCL] Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) The Journal of pediatrics — Vol. 155, no. 1, p. 90-3 (2009)
    • Journal article
    Molecular basis of vascular anomalies.
    Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] Mulliken, J B Olsen, B R (1998) Trends in cardiovascular medicine — Vol. 8, no. 7, p. 281-92 (1998)
    • Journal article
    Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.
    Persu, Alexandre[UCL] Amyere, Mustapha[UCL] Gutierrez-Roelens, Ilse[UCL] Rustin, Pierre Sempoux, Christine[UCL] Lecouvet, Frédéric[UCL] Van Beers, Bernard[UCL] Horsmans, Yves[UCL] De Plaen, Jean-François[UCL] Hamoir, Marc[UCL] Vikkula, Miikka[UCL] (2009) Journal of Hypertension — Vol. 27, no. 1, p. 76-82 (2009)
    • Journal article
    Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.
    Eerola, Iiro[UCL] Boon, Laurence M.[UCL] Watanabe, Shoji Grynberg, Henri Mulliken, John B Vikkula, Miikka[UCL] (2002) European Journal of Human Genetics — Vol. 10, no. 6, p. 375-380 (2002)
    • Journal article
    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)
    • Journal article
    From germline towards somatic mutations in the pathophysiology of vascular anomalies.
    Limaye, Nisha[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) Human molecular genetics — Vol. 18, no. R1, p. R65-74 (2009)
    • Journal article
    Recessive primary congenital lymphoedema caused by a VEGFR3 mutation
    Ghalamkarpour, Arrask[UCL] Holnthoner, Wolfgang Saharinen, Pipsa Boon, Laurence M.[UCL] Mulliken, John B. Alitalo, Kari Vikkula, Miikka[UCL] (2009) Journal of Medical Genetics — Vol. 46, no. 6, p. 399-404 (2009)
    • Journal article
    From Blue Jeans to Blue Genes.
    Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) Journal of Craniofacial Surgery — Vol. 20 Suppl 1, p. 703-7066 (2009)
    • Journal article
    Elevated D-dimer Level in the Differential Diagnosis of Venous Malformations
    Dompmartin, Anne Hermans, Cédric[UCL] Clapuyt, Philippe[UCL] Boon, Laurence M.[UCL] Ballieux, Fanny[UCL] Thibon, Pascal Lequerrec, Agnes Barrellier, Marie-Therese Hammer, Frank[UCL] Labbe, Daniel Vikkula, Miikka[UCL] (2009) Archives of Dermatology — Vol. 145, no. 11, p. 1239-44 (2009)
    • Dissertation
    Molecular genetics of vascular anomalies
    Vikkula, Miikka[UCL] (2000)
    • BookChapter
    Genetics of Arteriovenous Malformations
    Amyere, Mustapha[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) Brain Arteriovenous Malformations : Pathogenesis, Epidemiology, Diagnosis, Treatment and Outcome — [ISBN : 978-3-319-63963-5]
    • BookChapter
    Vascular Malformations
    Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2008) Fitzpatrick's Dermatology in General Medecine — [ISBN : 978-0-07-146690-5]
    • Journal article
    Vascular anomalies
    Vikkula, Miikka[UCL] (2007) Experimental Dermatology — Vol. 16, no.10, p. 877-879 (2007)
    • Journal article
    LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    Gong, Yaoqin Slee, Roger B. Fukai, Naomi Rawadi, Georges Roman-Roman, Sergio Reginato, Anthony M. Wang, Hongwei Cundy, Tim Glorieux, Francis H. Lev, Dorit Zacharin, Margaret Oexle, Konrad Marcelino, Jose Suwairi, Wafaa Heeger, Shauna Sabatakos, George Apte, Suneel Adkins, William N. Allgrove, Jeremy Arslan-Kirchner, Mine Batch, Jennifer A. Beighton, Peter Black, Graeme C. Boles, Richard G. Boon, Laurence M.[UCL] Borrone, Carla Brunner, Han G. Carle, Georges F. Dallapiccola, Bruno De Paepe, Anne Floege, Barbara Halfhide, Melissa Lees Hall, Bryan Hennekam, Raoul C. Hirose, Tatsuo Jans, Ab Jüppner, Harald Kim, Chong Ae Keppler-Noreuil, Kim Kohlschuetter, Alfred LaCombe, Didier LAMBERT, Marie[UCL] Lemyre, Emmanuelle Letteboer, Tom Peltonen, Leena Ramesar, Rajkumar S. Romanengo, Marta Somer, Hannu Steichen-Gersdorf, Elisabeth Steinmann, Beat Sullivan, Beth Superti-Furga, Andrea Swoboda, Walter van den Boogaard, Marie-José Van Hul, Wim Vikkula, Miikka[UCL] Votruba, Marcela Zabel, Bernhard Garcia, Teresa Baron, Roland Olsen, Bjorn R. Warman, Matthew L. Osteoporosis-Pseudoglioma Syndrome Collaborative Group (2001) Cell — Vol. 107, no.4, p. 513-523 (2001)
    • Journal article
    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)
    • Journal article
    CDKN2A, CDKN2B and p14ARF are frequently and differentially methylated in ependymal tumours.
    Rousseau, Emmanuel[UCL] Ruchoux, M-M Scaravilli, F. Chapon, F Vinchon, M De Smet, Charles[UCL] Godfraind, Catherine[UCL] Vikkula, Miikka[UCL] (2003) Neuropathology and applied neurobiology — Vol. 29, no. 6, p. 574-83 (2003)
    • Journal article
    5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
    Carr, Christopher W Zimmerman, Holly H Martin, Christa Lese Vikkula, Miikka Byrd, Adam C Abdul-Rahman, Omar A (2011) American Journal of Medical Genetics. Part A — Vol. 155A, no.7, p. 1640-5 (2011)
    • Journal article
    The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
    Veiga da Cunha, Maria[UCL] Gerin, Isabelle[UCL] Chen, Yuan-Tsong Lee, Philip J Leonard, James V Maire, Irène Wendel, Udo Vikkula, Miikka[UCL] Van Schaftingen, Emile[UCL] (1999) European journal of human genetics — Vol. 7, no. 6, p. 717-23 (1999)

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