Neurovascular manifestations of heritable connective tissue disorders. A review.

WI Schievink, VV Michels, DG Piepgras - Stroke, 1994 - Am Heart Assoc
Heritable disorders of connective tissue are recognized in a small minority of patients with
neurovascular diseases. In this report, we review the neurovascular manifestations of four …

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

N Chassaing, L Martin, P Calvas, M Le Bert… - Journal of Medical …, 2005 - jmg.bmj.com
Pseudoxanthoma elasticum (PXE) is an inherited systemic disease of connective tissue
primarily affecting the skin, retina, and cardiovascular system. It is characterised …

[PDF][PDF] International nosology of heritable disorders of connective tissue, Berlin, 1986

R Goodman - American journal of medical genetics, 1988 - academia.edu
The heritable disorders of connective tissue have proven to be very heterogeneous and
problems have arisen concerning syndromic boundaries, nomenclature, and classification …

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

O Le Saux, Z Urban, C Tschuch, K Csiszar… - Nature …, 2000 - nature.com
Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by calcification of
elastic fibres in skin, arteries and retina that results in dermal lesions with associated laxity …

Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

F Ringpfeil, MG Lebwohl… - Proceedings of the …, 2000 - National Acad Sciences
Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder
affecting the elastic structures in the body, manifests with cutaneous, ophthalmologic, and …

Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches

RP Finger, PC Issa, MS Ladewig, C Götting… - Survey of …, 2009 - Elsevier
Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with
accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and …

The measurement and modelling of the mechanical properties of human skin in vivo—I. The measurement

JFM Manschot, AJM Brakkee - Journal of biomechanics, 1986 - Elsevier
The mechanical properties of human skin in vivo are studied by means of uniaxial strain
measurements. In order to obtain a stress-strain relationship which is independent of the in …

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

AS Plomp, J Toonstra, AAB Bergen… - American journal of …, 2010 - Wiley Online Library
Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most
markedly in skin, retina, and blood vessels. It is caused by mutations in the ABCC6 gene …

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update

X Hu, AS Plomp, S van Soest, J Wijnholds… - Survey of …, 2003 - Elsevier
Pseudoxanthoma elasticum is an autosomally inherited disorder that is associated with the
accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in …

[HTML][HTML] Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

J Uitto, Q Li, Q Jiang - Journal of Investigative Dermatology, 2010 - Elsevier
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic
mineralization, manifests with characteristic skin findings, ocular involvement and …