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Displaying 4 results.
    • Journal article
    A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.
    Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Irrthum, A Karttunen, L Warman, M L Rudolph, R Mulliken, J B Olsen, B R Vikkula, Miikka[UCL] (1999) American journal of human genetics — Vol. 65, no. 1, p. 125-33 (1999)
    • 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)
    • BookChapter
    TIE-2 signalling and venous malformations
    Karttunen, Leena Vikkula, Miikka[UCL] Boon, Laurence M.[UCL] Olsen, Bjorn R. (1999) Angiogenesis in health and disease: basic mechanisms and clinical applications — [ISBN : 0824781023]
    • Journal article
    Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
    Annunen, S Körkkö, J Czarny, M Warman, M L Brunner, H G Kääriäinen, H Mulliken, J B Tranebjaerg, L Brooks, D G Cox, G F Cruysberg, J R Curtis, M A Davenport, S L Friedrich, C A Kaitila, I. Krawczynski, M R Latos-Bielenska, A Mukai, S Olsen, B R Shinno, N Somer, M Vikkula, Miikka[UCL] Zlotogora, J Prockop, D J Ala-Kokko, L (1999) American journal of human genetics — Vol. 65, no. 4, p. 974-83 (1999)