User profiles for "author:P Beighton"

Peter Beighton

Human Genetics, University of Cape Town
Verified email at uct.ac.za
Cited by 23655

The natural history of sclerosteosis

H Hamersma, J Gardner, P Beighton - Clinical genetics, 2003 - Wiley Online Library
Sclerosteosis (SCL) is a severe, progressive, autosomal‐recessive craniotubular
hyperostosis (MIM 269500). The determinant gene (SOST) has been isolated, and genotype …

International classification of osteochondrodysplasias

…, P Beighton… - European Journal of …, 1992 - Springer
At a meeting of the international working group on bone dysplasias in Bad Honnef, June 26-
28, 1991, the 1972 Paris classification of constitutional disorders of bone 1 has been …

Ehlers‐Danlos syndromes: revised nosology, Villefranche, 1997

P Beighton, AD Paepe, B Steinmann… - American journal of …, 1998 - Wiley Online Library
Abstract Categorization of the Ehlers‐Danlos syndromes began in the late 1960s and was
formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria …

Articular mobility in an African population.

PH Beighton, L Solomon… - Annals of the rheumatic …, 1973 - ncbi.nlm.nih.gov
Methods (a) Outline ofsurvey The project was carried out in the Tswana village of Phokeng,
which is situated at the foot of the Magaliesburg Hills, about 60 miles to the north-west of …

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

…, J Allgrove, M Arslan-Kirchner, JA Batch, P Beighton… - 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 …

[PDF][PDF] Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot–containing protein

…, P Tacconi, D Galas, H Hamersma, P Beighton… - The American Journal of …, 2001 - cell.com
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by
progressive skeletal overgrowth. The majority of affected individuals have been reported in …

[HTML][HTML] Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience

T Roberts, L Stephen, P Beighton - … , oral medicine, oral pathology and oral …, 2013 - Elsevier
Cleidocranial dysplasia (CCD) is an uncommon but well-known genetic skeletal condition.
Several hundred affected persons are members of a large extended family in the Cape …

Orthopaedic aspects of the Ehlers. Danlos syndrome

PH Beighton, F Horan - The Journal of Bone & Joint Surgery …, 1969 - boneandjoint.org.uk
ORTHOPAEDIC ASPECTS OF THE EHLERS.DANLOS SYNDROME and The Ehlers-Danlos
syndrome is an uncommon familial disorder of connective Page 1 I FIG. I FIG. 2 ORTHOPAEDIC …

[BOOK][B] Hypermobility of joints

PH Beighton, R Grahame, H Bird - 2011 - books.google.com
Hypermobility of Joints 4th Edition follows the same format as its successful predecessors.
The aim of which was to provide an overview of hyperlaxity of joints and this edition follows …

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

…, H Topaloglu, L Cattolico, D Barral, P Beighton… - Nature …, 2000 - nature.com
Abstract Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder
characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal …