FROM BLUE JEANS TO BLUE GENES

Por Boon, Laurence M., Vikkula, Miikka
Publicado em 2009

From germline towards somatic mutations in the pathophysiology of vascular anomalies

Por Limaye, Nisha, Boon, Laurence M., Vikkula, Miikka
Publicado em 2009

Molecular Basis of Vascular Birthmarks

Por Pocock, Ben, Boon, Laurence M., Vikkula, Miikka
Publicado em 2006

Pathogenesis of Vascular Anomalies

Por Boon, Laurence M., Ballieux, Fanny, Vikkula, Miikka
Publicado em 2011

Venous Malformation: update on etiopathogenesis, diagnosis & management

Por Dompmartin, Anne, Vikkula, Miikka, Boon, Laurence M
Publicado em 2010

Vascular Anomalies: From Genetics toward Models for Therapeutic Trials

Por Uebelhoer, Melanie, Boon, Laurence M., Vikkula, Miikka
Publicado em 2012

Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies

Por Nguyen, Ha-Long, Boon, Laurence M., Vikkula, Miikka
Publicado no Semin Intervent Radiol (2017)

Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

Por Eerola, Iiro, Boon, Laurence M., Mulliken, John B., Burrows, Patricia E., Dompmartin, Anne, Watanabe, Shoji, Vanwijck, Romain, Vikkula, Miikka
Publicado em 2003

PTHR1 mutations associated with Ollier disease result in receptor loss of function

Por Couvineau, Alain, Wouters, Vinciane, Bertrand, Guylène, Rouyer, Christiane, Gérard, Bénédicte, Boon, Laurence M., Grandchamp, Bernard, Vikkula, Miikka, Silve, Caroline
Publicado em 2008

Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

Por Limaye, Nisha, Wouters, Vinciane, Uebelhoer, Melanie, Tuominen, Marjut, Wirkkala, Riikka, Mulliken, John B., Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Publicado em 2008

Somatic Activating PIK3CA Mutations Cause Venous Malformation

Por Limaye, Nisha, Kangas, Jaakko, Mendola, Antonella, Godfraind, Catherine, Schlögel, Matthieu J., Helaers, Raphael, Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Publicado no Am J Hum Genet (2015)

Common and specific effects of TIE2 mutations causing venous malformations

Por Nätynki, Marjut, Kangas, Jaakko, Miinalainen, Ilkka, Sormunen, Raija, Pietilä, Riikka, Soblet, Julie, Boon, Laurence M., Vikkula, Miikka, Limaye, Nisha, Eklund, Lauri
Publicado no Hum Mol Genet (2015)

Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)

Por Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassibé, Michella, Warman, Matthew L., Tan, O. T., Olsen, Bjorn R., Vikkula, Miikka
Publicado em 2002

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Por Uebelhoer, Melanie, Nätynki, Marjut, Kangas, Jaakko, Mendola, Antonella, Nguyen, Ha-Long, Soblet, Julie, Godfraind, Catherine, Boon, Laurence M., Eklund, Lauri, Limaye, Nisha, Vikkula, Miikka
Publicado em 2013

Elevated D-dimer Level is Diagnostic for Venous Malformations

Por Dompmartin, Anne, Ballieux, Fanny, Thibon, Pascal, Lequerrec, Agnès, Hermans, Cédric, Clapuyt, Philippe, Barrellier, Marie-Thérèse, Hammer, Franck, Labbé, Daniel, Vikkula, Miikka, Boon, Laurence M
Publicado no Arch Dermatol (2009)

Association of localized intravascular coagulopathy with venous malformations

Por Dompmartin, Anne, Acher, Aurélie, Thibon, Pascal, Tourbach, Sébastien, Hermans, Cédric, Deneys, Véronique, Pocock, Ben, Lequerrec, Agnès, Labbé, Daniel, Barrellier, Marie-Thérèse, Vanwijck, Romain, Vikkula, Miikka, Boon, Laurence M
Publicado no Arch Dermatol (2008)

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Por Amyere, Mustapha, Aerts, Virginie, Brouillard, Pascal, McIntyre, Brendan A.S., Duhoux, François P., Wassef, Michel, Enjolras, Odile, Mulliken, John B., Devuyst, Olivier, Antoine-Poirel, Hélène, Boon, Laurence M., Vikkula, Miikka
Publicado em 2013

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

Por Boscolo, Elisa, Limaye, Nisha, Huang, Lan, Kang, Kyu-Tae, Soblet, Julie, Uebelhoer, Melanie, Mendola, Antonella, Natynki, Marjut, Seront, Emmanuel, Dupont, Sophie, Hammer, Jennifer, Legrand, Catherine, Brugnara, Carlo, Eklund, Lauri, Vikkula, Miikka, Bischoff, Joyce, Boon, Laurence M.
Publicado no J Clin Invest (2015)

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

Por Wouters, Vinciane, Limaye, Nisha, Uebelhoer, Melanie, Irrthum, Alexandre, Boon, Laurence M, Mulliken, John B, Enjolras, Odile, Baselga, Eulalia, Berg, Jonathan, Dompmartin, Anne, Ivarsson, Sten A, Kangesu, Loshan, Lacassie, Yves, Murphy, Jill, Teebi, Ahmad S, Penington, Anthony, Rieu, Paul, Vikkula, Miikka
Publicado em 2010

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Por Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Publicado no Orphanet J Rare Dis (2015)