Hypermobile Ehlers–Danlos syndrome (aka Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural …
B Tinkle, M Castori, B Berglund… - American Journal of …, 2017 - Wiley Online Library
The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common
hereditary disorder of connective tissue. It has been described largely in those with …
hereditary disorder of connective tissue. It has been described largely in those with …
Loeys–Dietz syndrome: a primer for diagnosis and management
G MacCarrick, JH Black, S Bowdin, I El-Hamamsy… - Genetics in …, 2014 - nature.com
Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and
arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical …
arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical …
Epidemiology, pathophysiology, diagnosis, and management of intracranial artery dissection
S Debette, A Compter, MA Labeyrie… - The Lancet …, 2015 - thelancet.com
Spontaneous intracranial artery dissection is an uncommon and probably underdiagnosed
cause of stroke that is defined by the occurrence of a haematoma in the wall of an …
cause of stroke that is defined by the occurrence of a haematoma in the wall of an …
Arterial tortuosity: Novel implications for an old phenotype
S Ciurică, M Lopez-Sublet, BL Loeys, I Radhouani… - …, 2019 - Am Heart Assoc
The sites and patterns of tortuosity are dependent on key anatomic factors. These include:•
Anatomic fixation—vascular elongation between 2 fixed points will give rise to tortuosity. 16 …
Anatomic fixation—vascular elongation between 2 fixed points will give rise to tortuosity. 16 …
Intracranial aneurysms: pathology, genetics, and molecular mechanisms
Intracranial aneurysms (IA) are local dilatations in cerebral arteries that predominantly affect
the circle of Willis. Occurring in approximately 2–5% of adults, these weakened areas are …
the circle of Willis. Occurring in approximately 2–5% of adults, these weakened areas are …
[HTML][HTML] Clinical features and complications of Loeys-Dietz syndrome: A systematic review
Abstract Introduction Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises
from mutations altering the transforming growth factor β signalling pathway. Due to the …
from mutations altering the transforming growth factor β signalling pathway. Due to the …
Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders
Background—Arterial tortuosity is described as a common and distinctive feature of Loeys-
Dietz syndrome (LDS), yet reports on arterial tortuosity are based on qualitative observations …
Dietz syndrome (LDS), yet reports on arterial tortuosity are based on qualitative observations …
Pathophysiology and risk factors of cervical artery dissection: what have we learnt from large hospital-based cohorts?
S Debette - Current Opinion in Neurology, 2014 - journals.lww.com
Large cohorts of CeAD patients have refined our understanding of the pathophysiology and
risk factors of CeAD, but the molecular mechanisms are still poorly understood. Ongoing …
risk factors of CeAD, but the molecular mechanisms are still poorly understood. Ongoing …
Intracranial dissections: a pictorial review of pathophysiology, imaging features, and natural history
KM Bond, T Krings, G Lanzino, W Brinjikji - Journal of Neuroradiology, 2021 - Elsevier
Intracranial artery dissections (IAD) are uncommon entities associated with high rates of
morbidity and mortality. Certain ethnic groups and patients with underlying connective tissue …
morbidity and mortality. Certain ethnic groups and patients with underlying connective tissue …
Loeys-dietz syndrome
L Van Laer, H Dietz, B Loeys - Progress in heritable soft connective tissue …, 2014 - Springer
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized
by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid …
by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid …