Peter Beighton
Peter Beighton
Human Genetics, University of Cape Town
Bestätigte E-Mail-Adresse bei uct.ac.za
Titel
Zitiert von
Zitiert von
Jahr
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ...
Cell 107 (4), 513-523, 2001
23812001
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997
P Beighton, AD Paepe, B Steinmann, P Tsipouras, RJ Wenstrup
American journal of medical genetics 77 (1), 31-37, 1998
19611998
Articular mobility in an African population.
PH Beighton, L Solomon, CL Soskolne
Annals of the rheumatic diseases 32 (5), 413, 1973
17271973
Bone Dysplasia Sclerosteosis Results from Loss of the< i> SOST</i> Gene Product, a Novel Cystine Knot–Containing Protein
ME Brunkow, JC Gardner, J Van Ness, BW Paeper, BR Kovacevich, ...
The American Journal of Human Genetics 68 (3), 577-589, 2001
9882001
Orthopaedic aspects of the Ehlers-Danlos syndrome
PH Beighton, F Horan
J Bone Joint Surg Br 51 (3), 444-453, 1969
6551969
Hypermobility of joints
PH Beighton, R Grahame, H Bird
Springer, 2011
6082011
A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population
K Staehling‐Hampton, S Proll, BW Paeper, L Zhao, P Charmley, A Brown, ...
American journal of medical genetics 110 (2), 144-152, 2002
3052002
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
S Nicole, CS Davoine, H Topaloglu, L Cattolico, D Barral, P Beighton, ...
Nature genetics 26 (4), 480-483, 2000
3022000
Split-Hand/Split-Foot Malformation Is Caused by Mutations in the< i> p63</i> Gene on 3q27
P Ianakiev, MW Kilpatrick, I Toudjarska, D Basel, P Beighton, P Tsipouras
The American Journal of Human Genetics 67 (1), 59-66, 2000
2992000
Ehlers—Danlos Syndrome
P Beighton, R Grahame, H Bird
Hypermobility of Joints, 125-149, 1983
285*1983
Ehlers-Danlos syndrome.
P Beighton
Annals of the rheumatic diseases 29 (3), 332, 1970
2821970
EHLERS-DANLOS SYNDROME
ELKINGTO. SG, P BEIGHTON
BRITISH MEDICAL JOURNAL 2 (5555), 843-&, 1967
2821967
Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium
LA Farrer, KM Grundfast, J Amos, KS Arnos, JH Asher, P Beighton, ...
American journal of human genetics 50 (5), 902, 1992
2481992
The natural history of sclerosteosis
H Hamersma, J Gardner, P Beighton
Clinical genetics 63 (3), 192-197, 2003
2212003
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
WJ Kimberling, CG Möller, S Davenport, IA Priluck, PH Beighton, ...
Genomics 14 (4), 988-994, 1992
2211992
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ...
The American Journal of Human Genetics 68 (6), 1321-1326, 2001
1932001
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2
B Sykes, D Ogilvie, P Wordsworth, G Wallis, C Mathew, P Beighton, ...
American journal of human genetics 46 (2), 293, 1990
1781990
Bone mineral density in sclerosteosis; affected individuals and gene carriers
JC Gardner, RL van Bezooijen, B Mervis, NAT Hamdy, CWGM Löwik, ...
The Journal of Clinical Endocrinology & Metabolism 90 (12), 6392-6395, 2005
1742005
The dominant and recessive forms of cutis laxa.
P Beighton
Journal of medical genetics 9 (2), 216-221, 1972
1651972
Inherited disorders of the skeleton
P Beighton
Churchill Livingstone, 1988
1641988
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