Vol 106, No 6 (2016)

Supplement: Peter Beighton Festschrift

Table of Contents

Festschrift: Peter Beighton

Cover PDF
Contents PDF
Preface PDF
Foreword PDF
Stuart Saunders, J P van Niekerk, Jacquie Greenberg, Alan Bryer, Lawrence X G Stephen S4
A true mentor and pioneer in medical genetics PDF
Michael Hayden S7
Using the skills of academic elders PDF
Judith Hall S9
A pillar of academic and research excellence: The enduring influence of mentorship in science PDF
Colin Soskolne S12
Osteogenesis imperfecta in southern Africa: Peter Beighton’s legacy PDF
David Sillence S13
From Africa and India to Blackpool: Military history and ambulance services PDF
Wim de Villiers S19
Peter Beighton on Rapa Nui (Easter Island), 1964 - 1965 PDF
Jacalyn Duffin S21
People and wildlife in the Tristan da Cunha islands PDF
Martin Holdgate S23
Tributes PDF
Frank T Horan, David N Hall, Steve Mannion, Donald Basel S27
Cytogenetics at the University of Cape Town: A 45-year journey PDF
R Smart, G Schutte, T Ruppelt, L J Greenberg S29
Inherited retinal disorders in South Africa and the clinical impact of evolving technologies PDF
L Roberts, R Goliath, G Rebello, S Bardien, A V September, L Bartmann, F Loubser, L J Greenberg, R S Ramesar S33
The hereditary ataxias: Where are we now? Four decades of local research PDF
D C Smith, L J Greenberg, A Bryer S38
Joint laxity in the performing arts PDF
H Bird S42
Ehlers-Danlos syndrome PDF
R Grahame S45
Pamidronate treatment for osteogenesis imperfecta in black South Africans PDF
B D Henderson, N Isaac, O Mabele, S Khiba, A Nkayi, T Mokoena S47
Thanatophoric dysplasia: A review PDF
H Wainwright S50
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder PDF
E M Honey S54
The rise of developmental genetics – a historical account of the fusion of embryology and cell biology with human genetics and the emergence of the Stem Cell Initiative PDF
S H Kidson, R Ballo, L J Greenberg S57
Tributes PDF
Sean L Sellars, Herman Hamersma, Kazimierz Kozlowski, Ingrid Winship, Claudette Medefindt, Sol Zieff, Peter Bonafede, George Gericke, Denis L Viljoen S59
A possible heterozygous advantage in muscular dystrophy PDF
A E H Emery S65
Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going? PDF
A I Esterhuizen, L J Greenberg, R Ballo, R G Goliath, J M Wilmshurst S67
Bardet Biedl syndrome in South Africa: A single founder mutation PDF
K Fieggen, C Milligan, B Henderson, A I Esterhuizen S72
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations PDF
J C Gardner, M Michaelides, A J Hardcastle S75
Interruption of enzyme replacement therapy in Gaucher disease PDF
J Goldblatt, J M Fletcher, J McGill, J Szer, M Wilson S79
predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study PDF
R De Decker, Z Bruwer, L Hendricks, M Schoeman, G Schutte, J Lawrenson S82
Interpreting genetic risks PDF
J Pearn S87
Osteogenesis imperfecta type III in South Africa: Psychosocial challenges PDF
L X G Stephen, T Roberts, E van Hayden, M Chetty S90
Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town PDF
T Roberts, M Chetty, F Kimmie-Dhansay, K Fieggen, L X G Stephen S94
Hyperostosis in siblings PDF
J W Spranger, E Lausch S98
Osteoporosis-pseudoglioma syndrome in South Africa PDF
M Chetty, L X G Stephen, T Roberts S100
Fetal alcohol spectrum disorders: Prevalence rates in South Africa PDF
L Olivier, L M G Curfs, D L Viljoen S103
Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy PDF
L Watson, D C Smith, J Scholefield, R Ballo, S Kidson, L J Greenberg, M J A Wood S107
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature PDF
A Wonkam, N Makubalo, T Roberts, M Chetty S110
Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa PDF
M Kotze S114
Evaluating the contribution of APOBEC3G haplotypes, on influencing HIV infection in a Zimbabwean paediatric population PDF
K Mhandire, K Duri, D Mhandire, C Musarurwa, B Stray-Pedersen, C Dandara S119
Tributes PDF
Richard Burman, J Scholefield, Lucia Bartmann S124
Acknowledgements from the Editorial Team PDF
J Greenberg S126