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Peter Beighton
University of Cape Town
PathologyDominance (genetics)GeneticsMedicineBiology
525Publications
51H-index
18.7kCitations
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Publications 532
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#1M. Chetty (UWC: University of the Western Cape)H-Index: 2
#2T. Roberts (UWC: University of the Western Cape)H-Index: 5
Last. Peter Beighton (UCT: University of Cape Town)H-Index: 51
view all 4 authors...
The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of abnormal dentine in some forms of OI is well documented, there is scant information on the association of abnormal dentine in the Black African persons with phenotypic OI III and genotypic OI XI in South Africa. This was a cross-sectional analytic study. A series of 64 Black South African individuals with a confirmed phenotypic diagnosis of ...
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#1Emile R. Chimusa (UCT: University of Cape Town)H-Index: 10
#2Peter Beighton (UCT: University of Cape Town)H-Index: 51
Last. Rajkumar Ramesar (UCT: University of Cape Town)H-Index: 35
view all 4 authors...
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#1M Chetty (UCT: University of Cape Town)
#2T Roberts (UCT: University of Cape Town)
Last. Peter Beighton (UCT: University of Cape Town)H-Index: 51
view all 5 authors...
#1M. Chetty (UWC: University of the Western Cape)H-Index: 2
#2T. Roberts (UWC: University of the Western Cape)H-Index: 5
Last. Peter Beighton (UCT: University of Cape Town)H-Index: 51
view all 4 authors...
Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal recessive disorder. Affected individuals have multiple fractures, develop limb deformities with spinal malalignment and stunted stature. The frequency of Osteogenesis imperfecta type III (OI III) is relatively high in the indigenous Black African population of South Africa. A review of the literature revealed a paucity of information regarding the craniofacial manifestations of the disorder in this ethnic group. The findings in...
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#1Tadeusz Bieganski (Memorial Hospital of South Bend)H-Index: 6
#2Peter Beighton (UCT: University of Cape Town)H-Index: 51
Last. Malwina Czarny-Ratajczak (Tulane University)H-Index: 8
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Abstract Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4 :c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral forma...
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#1Alvera Vorster (UCT: University of Cape Town)H-Index: 4
#2Peter Beighton (UCT: University of Cape Town)H-Index: 51
Last. Rajkumar Ramesar (UCT: University of Cape Town)H-Index: 35
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Background. A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. Objective. To delineate the molecular basis for the condition. Methods. Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic ...
2 CitationsSource
#1M. ChettyH-Index: 2
#2T. RobertsH-Index: 5
Last. Peter BeightonH-Index: 51
view all 4 authors...
Source
#1M. ChettyH-Index: 2
#2T. RobertsH-Index: 5
Last. Peter BeightonH-Index: 51
view all 4 authors...
4 CitationsSource
#1Careni Spencer (UCT: University of Cape Town)H-Index: 1
#2Karen Fieggen (UCT: University of Cape Town)H-Index: 9
Last. Peter Beighton (UCT: University of Cape Town)H-Index: 51
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Background. Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive overgrowth syndrome manifesting primarily in boys and characterised by macrosomia, distinctive facial features and multiple congenital abnormalities. Although this rare condition is thought to be underdiagnosed, making a diagnosis is important as affected boys have a 7.5% risk of developing visceral tumours and surveillance is warranted. Mutations in GPC3 are found in up to 70% of boys affected with SGBS. Objectives. A cl...
2 CitationsSource
#1A.A. Vorster (UCT: University of Cape Town)H-Index: 9
#2Peter Beighton (UCT: University of Cape Town)H-Index: 51
Last. Rajkumar Ramesar (UCT: University of Cape Town)H-Index: 35
view all 3 authors...
Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and ‘rocker-bottom’ feet due to a vertical talus, was first described in a South African family of European stock in 1972. We review the clinical manifestations and document the molecular basis for DTD in this prototype family. This family was restudied in 1995 and 2006 and biological specimens were obtained for molecular studies. Since the distal arthrogryposes (DAs) are genetically hete...
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