User profiles for "author:Miikka Vikkula"
Miikka VikkulaProfessor 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 …
threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced …
[HTML][HTML] Genetics of lymphatic anomalies
Lymphatic anomalies include a variety of developmental and/or functional defects affecting
the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary …
the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary …
Venous malformation: update on aetiopathogenesis, diagnosis and management
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
vessels. An autosomal dominant, congenital form of the disease, also known as" Milroy …