User profiles for "author:Miikka Vikkula"

Miikka Vikkula

Professor of Human Genetics, de Duve Institute, UCLouvain
Verified email at uclouvain.be
Cited by 27043

Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies

M Wassef, F Blei, D Adams, A Alomari, E Baselga… - …, 2015 - publications.aap.org
Vascular anomalies represent a spectrum of disorders from a simple “birthmark” to life-
threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced …

[HTML][HTML] Genetics of lymphatic anomalies

P Brouillard, L Boon, M Vikkula - The Journal of clinical …, 2014 - Am Soc Clin Investig
Lymphatic anomalies include a variety of developmental and/or functional defects affecting
the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary …

Venous malformation: update on aetiopathogenesis, diagnosis and management

A Dompmartin, M Vikkula, LM Boon - Phlebology, 2010 - journals.sagepub.com
The aim of this review was to discuss the current knowledge on aetiopathogenesis,
diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow …

[HTML][HTML] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Y Gong, RB Slee, N Fukai, G Rawadi… - Cell, 2001 - cell.com
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

[HTML][HTML] Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

M Vikkula, LM Boon, KLC Iii, JT Calvert, AJ Diamonti… - Cell, 1996 - cell.com
Venous malformations (VMs), the most common errors of vascular morphogenesis in
humans, are composed of dilated, serpiginous channels. The walls of the channels have a …

Chromosome instability is common in human cleavage-stage embryos

E Vanneste, T Voet, C Le Caignec, M Ampe… - Nature medicine, 2009 - nature.com
Chromosome instability is a hallmark of tumorigenesis. This study establishes that
chromosome instability is also common during early human embryogenesis. A new array …

[PDF][PDF] Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

I Eerola, LM Boon, JB Mulliken, PE Burrows… - The American Journal of …, 2003 - cell.com
Capillary malformation (CM), or" port-wine stain," is a common cutaneous vascular anomaly
that initially appears as a red macular stain that darkens over years. CM also occurs in …

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

TC Pansuriya, R van Eijk, P d'Adamo… - Nature …, 2011 - nature.com
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by
multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci …

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

B Lorenz-Depiereux, M Bastepe, A Benet-Pagès… - Nature …, 2006 - nature.com
Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an
autosomal recessive form (designated ARHP) to chromosome 4q21 and identified …

[PDF][PDF] Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

A Irrthum, MJ Karkkainen, K Devriendt, K Alitalo… - The American Journal of …, 2000 - cell.com
Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic
vessels. An autosomal dominant, congenital form of the disease, also known as" Milroy …