Marina Colombi

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul Coucke, Andy Willaert, Marja W. Wessels et al. · Nature Genetics · 2006 · 392 citations · Full text

Metabolic Syndrome, Arterial Tortuosity Syndrome, Molecular Physiology +8

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 156 citations · Full text

Ehlers-danlos Syndrome, Mendelian Disorder, Autoimmune Disease +8

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

Marco Castori, Silvia Morlino, Claudia Celletti et al. · American Journal of Medical Genetics Part A · 2012 · 150 citations

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Developmental Biology, Corneal Dystrophy, Genetics +5