Peter Beighton

Q: What Schools Are Affiliated With Peter Beighton

Peter Beighton is affiliated with the following schools: University of the Western Cape, University of Cape Town

Peter Beighton's AcademicInfluence.com Rankings

Peter Beighton

Biology

#2699

World Rank

#4257

Historical Rank

Genetics

#185

World Rank

#227

Historical Rank

biology Degrees

Download Badge

Biology

Peter Beighton's Degrees

Masters Medicine University of Cape Town
PhD Medical Genetics University of Cape Town

Why Is Peter Beighton Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Peter H Beighton was a medical geneticist. Born in Lancashire in England in 1934 and qualified in medicine in 1957 at St Mary's Hospital, University of London. After several internships, Beighton served as a Medical Officer in the Parachute Regiment and with the United Nations forces during the Congo Crisis. In 1966 Beighton began training in internal medicine at St Thomas' Hospital in London and held a Fulbright research fellowship in clinical genetics in 1968-69 with Dr. Victor McKusick at Johns Hopkins Hospital in Baltimore, USA.

(See a Problem?)

Peter Beighton's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development (2001) (2175)
Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997 (1998) (1531)
Articular mobility in an African population. (1973) (1471)
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. (2001) (930)
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. (1988) (703)
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). (1998) (700)
Orthopaedic aspects of the Ehlers-Danlos syndrome. (1969) (523)
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. (2002) (287)
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (2000) (284)
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) (2000) (267)
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (1996) (242)
Huntington's chorea. (1981) (237)
The natural history of sclerosteosis (2003) (208)
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. (1992) (188)
Waardenburg 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. (1992) (183)
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. (2001) (179)
McKusick's heritable disorders of connective tissue (1993) (173)
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome (2010) (165)
Bone mineral density in sclerosteosis; affected individuals and gene carriers. (2005) (161)
Rheumatoid arthritis in a rural South African Negro population. (1975) (160)
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. (1990) (159)
Gastrointestinal complications of the Ehlers-Danlos syndrome (1969) (154)
Ehlers–Danlos Syndrome (1967) (150)
Clinical and Genetic Aspects (1980) (149)
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (2005) (145)
BLOOD-PRESSURE AND ITS CORRELATES IN URBAN AND TRIBAL AFRICA (1980) (130)
Hypermobility of joints (1983) (128)
The syndromic status of sclerosteosis and van Buchem disease (1984) (124)
The dominant and recessive forms of cutis laxa. (1972) (120)
The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. (1976) (116)
Inherited disorders of the skeleton (1978) (114)
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. (1994) (109)
A review of the osteopetroses. (1977) (108)
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. (1999) (102)
Surgical aspects of the Ehlers‐Danlos syndrome a survey of 100 cases (1969) (90)
Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. (1969) (90)
Acquired cutis laxa. Primary generalized elastolysis. (1971) (90)
Evidence for genetic heterogeneity in tuberous sclerosis. (1989) (89)
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. (1992) (86)
The prevalence of Huntington's chorea in South Africa. (1980) (85)
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (2013) (83)
Wormian bones in osteogenesis imperfecta and other disorders (1982) (80)
Serious ophthalmological complications in the Ehlers-Danlos syndrome. (1970) (80)
Rheumatic disorders in the South African Negro. Part II. Osteo-arthrosis. (1975) (78)
The marfanoid hypermobility syndrome. (1969) (76)
Sclerosteosis — An autosomal recessive disorder (1977) (73)
Osteopetrosis in South Africa. The benign, lethal and intermediate forms. (1979) (72)
International classification of osteochondrodysplasias (1992) (72)
Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals. (1987) (72)
Dominant inheritance in familial generalised articular hypermobility. (1970) (72)
Lethal Complications of the Ehlers–Danlos Syndrome (1968) (70)
Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome) (1989) (68)
Rheumatic disorders in the South African Negro. Part I. Rheumatoid arthritis and ankylosing spondylitis. (1975) (67)
Molecular nosology of heritable disorders of connective tissue. (1992) (66)
Cardiovascular disease in air travellers. (1968) (66)
Dysplasia epiphysialis hemimelica. A clinical and genetic study. (1983) (65)
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. (1993) (64)
Ehlers-Danlos syndrome. (1970) (61)
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. (1988) (60)
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome (1985) (57)
Autosomal dominant inheritance of scalp defects with ectrodactyly. (1979) (56)
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. (1995) (56)
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia (2006) (55)
Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation (2010) (55)
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. (1997) (54)
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. (1995) (54)
Piebaldism with deafness: molecular evidence for an expanded syndrome. (1998) (53)
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. (1999) (53)
Schwartz-Jampel syndrome (chondrodystrophic myotonia). (1992) (52)
Sclerosing bone dysplasias. (1982) (52)
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. (1997) (52)
Osteoarthrosis in a rural South African Negro population. (1976) (52)
The orthopedic aspects of Gaucher disease. (1978) (50)
Osteopathia striata with cranial sclerosis. An autosomal dominant entity (1978) (50)
The radiology of sclerosteosis. (1976) (48)
Bone involvement in Gaucher disease. (1982) (48)
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. (1998) (47)
Craniometaphyseal dysplasia (CMD), autosomal dominant form. (1995) (47)
Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected. (1994) (47)
The man behind the syndrome (1986) (47)
Hypermobility scoring. (1988) (47)
The radiological spectrum of fibrodysplasia ossificans progressiva. (1982) (46)
Rheumatoid arthritis in a tribal Xhosa population in the Transkei, Southern Africa. (1977) (46)
The Ehlers‐Danlos syndrome: an analysis of the structure of the collagen fibres of the skin (1980) (45)
X–linked Recessive Inheritance in the Ehlers–Danlos Syndrome* (1968) (45)
A comparison of the prevalence of hallux valgus in three South African populations. (1980) (45)
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. (2015) (45)
Craniometaphyseal dysplasia ‐variability of expression within a large family (1979) (45)
IMPAIRED PROLACTIN RELEASE IN HUNTINGTON'S CHOREA EVIDENCE FOR DOPAMINERGIC EXCESS (1977) (44)
Physical properties of the skin in the Ehlers-Danlos syndrome. (1969) (43)
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the Black population of South Africa (1985) (43)
Beukes familial hip dysplasia: an autosomal dominant entity. (1990) (41)
Atlanto-axial subluxation in the Morquio syndrome. Report of a case. (1973) (41)
Prodromal trigeminal sensory neuropathy in progressive systemic sclerosis. (1968) (41)
The cutaneous manifestations of the Klippel‐Trenaunay‐Weber syndrome (1987) (39)
Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions. (1983) (39)
The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity (1984) (39)
Spondylo-Epi-Metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis (2004) (39)
Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. (1985) (39)
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? (2006) (38)
Childhood deafness in southern Africa (1983) (38)
The origin of Huntington's chorea in the Afrikaner population of South Africa. (1980) (38)
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. (1990) (37)
Familial hypertrichosis cubiti: hairy elbows syndrome. (1970) (37)
Pyle disease (metaphyseal dysplasia). (1987) (37)
Sclerosteosis in South Africa. (1979) (36)
Radial ray defects and associated anomalies (1989) (36)
Cardiac abnormalities in the Ehlers-Danlos syndrome. (1969) (36)
Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients. (1983) (36)
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). (1992) (33)
Dyggve-Melchior-Clausen syndrome. (1990) (33)
The radiological manifestations of metaphyseal dysplasia (Pyle disease). (1979) (33)
Plastic Surgery in Pseudoxanthoma Elasticum: Experience in Nine Patients (1990) (32)
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. (1992) (32)
Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases (1984) (32)
Total hip arthroplasty in Gaucher's disease. Long-term prognosis. (1988) (32)
Osteogenesis imperfects type III: An ancient mutation in Africa? (1987) (31)
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). (1994) (31)
Bone fusion in the foetal alcohol syndrome. (1981) (31)
Pseudoachondroplasia, a report of 13 cases. (1977) (30)
Warfarin embryopathy: fetal manifestations (2010) (30)
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. (1996) (30)
Endocrine function in sclerosteosis. (1979) (30)
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval (1996) (30)
Assessment of Hypermobility (1989) (30)
EPIDEMIC OF CONJOINED TWINS IN SOUTHERN AFRICA? (1975) (30)
Chondrodysplasia punctata in siblings and maternal lupus erythematosus (2004) (29)
Cardiovascular abnormalities in cutis laxa. (1977) (29)
Retinitis pigmentosa in Southern Africa (1993) (29)
Blount disease. A review of etiological factors in 110 patients. (1978) (28)
Dental and oral manifestations of sclerosteosis. (2001) (28)
Cutaneous manifestations of Gaucher disease (1984) (27)
Huntington's chorea on the island of Mauritius. (1981) (27)
The epidemiology of conjoined twinning in Southern Africa (1983) (27)
Autosomal recessive inheritance in camptomelic dwarfism. (1973) (27)
Frontometaphyseal dysplasia: autosomal dominant or X-linked? (1980) (27)
Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. (1991) (27)
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families (2015) (27)
Bone Dysplasias of Infancy (1978) (27)
Serum uric acid concentrations in an urbanized South African Negro population. (1974) (26)
Hearing Impairment and Pigmentary Disturbance a (1991) (26)
Autosomal recessive inheritance of metaphyseal dysplasia (1978) (26)
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families (1997) (26)
Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1. (1991) (26)
Plastic surgery in cutis laxa. (1970) (26)
Mseleni and Handigodu familial osteoarthropathies: syndromic identity? (1997) (26)
The high frequency of juvenile Huntington's chorea in South Africa (1982) (25)
Dwarfism in the newborn: the nomenclature, radiological features and genetic significance. (1974) (24)
Spondylocostal dysostosis in South African sisters (1981) (24)
The obstetric and gynaecological implications of pseudoxanthoma elasticum (1987) (23)
The prevalence of hallux valgus in three South African populations. (1981) (23)
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. (1983) (23)
Gamut Index of Skeletal Dysplasias (1984) (23)
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination (2003) (22)
X-linked inheritance of ocular albinism with late-onset sensorineural deafness. (1984) (22)
Proceedings: Rheumatoid arthritis in the South African Negro. (1975) (22)
The femoral hypoplasia ‐ unusual facies syndrome: A genetic entity? (1981) (22)
Autosomal recessive inheritance of Charcot‐Marie‐Tooth disease associated with sensorineural deafness (1984) (22)
Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. (1995) (22)
The radiology of the Ehlers-Danlos syndrome. (1969) (22)
Osteoporosis‐pseudoglioma syndrome (1986) (21)
Articular manifestations of the Ehlers-Danlos Syndrome. (1972) (21)
Dominantly inherited digito-talar dysmorphism. (1972) (21)
Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis (1984) (21)
Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations. (1983) (21)
Bone Dysplasias of Infancy: A Radiological Atlas (1978) (21)
Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? (1983) (21)
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. (1986) (21)
Prevalence of varicose veins in Africans. (1973) (21)
X-linked deafness in a South African kindred. (1974) (21)
Obstetric aspects of Gaucher disease (1985) (21)
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. (1984) (21)
Namaqualand hip dysplasia: an autosomal dominant entity. (1984) (21)
Bruck syndrome: congenital joint contractures with bone fragility (2005) (20)
Rheumatic disorders in the South African Negro. Part IV. Gout and hyperuricaemia. (1977) (20)
Chronic Gaucher's disease: radiological findings in 17 South African cases. (1975) (20)
Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta? (1981) (20)
Limb overgrowth--clinical observations and nosological considerations. (1983) (20)
Non-neuropathic Gaucher disease presenting in infancy. (1979) (20)
Serum uric acid concentrations in a rural Tswana community in Southern Africa. (1973) (20)
Heterozygous manifestations of Langer mesomelic dysplasia (1987) (19)
The Dyggve – Melchior – Clausen syndrome in adult siblings (1978) (19)
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. (1993) (19)
Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness (1978) (19)
Retinitis pigmentosa in South Africa. (1985) (19)
Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia? (1988) (18)
Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. (1989) (18)
Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions. (1986) (17)
Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. (1990) (17)
Brachyolmia: an autosomal dominant form. (1994) (17)
The Schwartz syndrome in Southern Africa (1973) (17)
Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? (1987) (17)
Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases. (2011) (17)
Serum uric acid concentrations in a Xhosa community in the Transkei of Southern Africa. (1976) (17)
Piebaldism: an autonomous autosomal dominant entity (1991) (17)
Genetic aspects of Huntington's chorea: results of a national survey. (1982) (17)
Emery‐Dreifuss syndrome and X‐linked muscular dystrophy with contractures: evidence for homogeneity (1989) (17)
X‐linked Ehlers‐Danlos syndrome type V; the next generation (1985) (16)
Gaucher's disease in South Africa. (1979) (16)
Recessive inheritance of generalized joint hypermobility. (1973) (16)
Gaucher disease in the Afrikaner population of South Africa. (1979) (16)
Neural tube defects in the Cape Town area, 1975-1980. (1983) (16)
"Osteopetrosis" in the Fairbank Collection. (1978) (16)
The Waardenburg syndrome in deaf children in southern Africa. (1983) (16)
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields. (1989) (16)
Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. (1989) (16)
Macromelanosomes in the Early Diagnosis of Neurofibromatosis (1986) (16)
Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli (1974) (16)
Radiology of the autosomal dominant form of craniometaphyseal dysplasia. (1975) (15)
A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family. (1994) (15)
The split-hand and split-foot anomaly in a central African Negro population. (1984) (15)
Autosomal recessive inheritance of osteogenesis imperfecta (1975) (15)
Deafness in Osteodysplasty of Melnick and Needles. (1978) (15)
Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy. (1987) (15)
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (1984) (15)
Childhood deafness in Zimbabwe. (1988) (15)
Inherited disorders in the black population of southern Africa. Part II. Gene disorders. (1986) (14)
Intracranial calcification in oculodento-osseous dysplasia. (1981) (14)
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa (1991) (14)
Huntington's chorea in the Cape coloured community of South Africa. (1977) (14)
Phenotypic discriminants in the Waardenburg syndrome. (2008) (14)
Aetiology of deafness in white children in the Cape. (1976) (14)
Bilateral Femoral Dysgenesis (1970) (14)
Familial rhizomelic dysplasia: phenotypic variation or heterogeneity? (1987) (14)
Spondyloenchondromatosis: syndromic identity and evolution of the phenotype. (1995) (13)
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. (2009) (13)
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. (1992) (13)
Childhood deafness in Cape Town. (1975) (13)
Plastic surgery in the Ehlers-Danlos syndrome. Case report. (1970) (13)
Sclerosteosis in old age. (1980) (13)
Ophthalmological complications in the sclerosing bone dysplasias. (1985) (13)
Deafness in Black children is Southern Africa. (1977) (13)
The Person Behind the Syndrome (1996) (13)
SOST-Related Sclerosing Bone Dysplasias (2013) (13)
Osteoglophonic dwarfism (2005) (12)
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (1971) (12)
Orthopaedic aspects of the Schwartz syndrome. (1975) (12)
The prevalence of hallux valgus in South African males. (1984) (12)
Bone and joint disorders on Tristan da Cunha. (1974) (12)
Cutaneous manifestations of osteoectasia (1982) (12)
Marfan syndrome: a diagnostic dilemma (1990) (12)
Dental management of severe dentinogenesis imperfecta in a mild form of osteogenesis imperfecta. (2002) (12)
Fibrodysplasia ossificans progressiva in South Africa. Case reports. (1982) (11)
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene (2002) (11)
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1. (1994) (11)
Osteoglophonic dysplasia: dental and orthodontic implications. (2006) (11)
Genetic disorders in Southern Africa. (1976) (11)
Serogenetic studies on the inhabitants of Tristan da Cunha. (1985) (11)
Ehlers‐Danlos syndrome: yet another type? (1987) (11)
Morquio's disease type B (beta-galactosidase deficiency) in three siblings. (1987) (11)
Orthodontic management of achondroplasia in South Africa. (2005) (11)
Obstetric aspects of the Ehlers-Danlos syndrome. (1969) (11)
Heterozygous manifestations in the heritable disorders of the skeleton (1997) (11)
Fibrodysplasia Ossificans Progressiva in South Africa: Difficulties in Management in a Developing Country (2011) (10)
Costovertebral anomalies in osteogenesis imperfecta. (1985) (10)
Brachydactylous dwarfs of Mseleni. (1993) (10)
Childhood deafness in the Indian population of Natal. (1987) (10)
Gaucher's disease in Southern Africa. (1974) (10)
Whence the arthrogrypotics? (1976) (10)
Osteoglophonic dysplasia. (1989) (9)
The aetiology of partial deafness in childhood. (1978) (9)
Crouzonodermoskeletal syndrome. (2004) (9)
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping (2000) (9)
UCT's contribution to medical genetics in Africa - from the past into the future. (2012) (9)
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta (2016) (9)
Hypermobility in the Performing Arts and Sport (1989) (9)
Musculoskeletal Features of Hypermobility and Their Management (2012) (9)
Mseleni joint disease--a molecular genetic approach to defining the aetiology. (1996) (9)
Clinical Features of Hypermobility (Locomotor System and Extra-articular) (1989) (9)
Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy (1983) (9)
CANDLE SYNDROME: Orodfacial manifestations and dental implications (2015) (9)
Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findings a (1988) (9)
Vestibular dysfunction in hereditary ataxia. (1975) (9)
Craniofacial manifestations in osteogenesis imperfecta type III in South Africa (2017) (9)
Mitral valve prolapse and a Marfanoid habitus. (1982) (9)
Diagnostic considerations in arthrogry‐posis syndromes in South Africa (1984) (9)
Oro-dental manifestations of the Schwartz-Jampel syndrome. (2003) (9)
Infantile metaphysial dysplasia or "battered babies"? A reassessment of material in the Fairbank Collection. (1980) (8)
The orthopaedic implications of the sclerosing bone dysplasias. (1980) (8)
Profound Childhood Deafness in Southern Africa (1991) (8)
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. (2017) (8)
South African variants of Gaucher disease. (1982) (8)
Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1). (1992) (8)
The radiographic manifestations of hypochondroplasia. (1979) (8)
Genetic disorders on the island of St Helena. (1985) (8)
Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management. (2004) (8)
The University of Cape Town's contribution to medical genetics in Africa: from the past into the future (2012) (8)
Epiphyseal stippling in acrodysostosis. (1991) (8)
THE PHYSICAL PROPERTIES OF SKIN IN CUTIS LAXA (1971) (8)
Amitriptyline poisoning treated by forced diuresis. (1966) (8)
Bone dysplasias of infancy in the Vienna collection (2005) (7)
Taurodontism in dental genetics (2021) (7)
Genetic heterogeneity in type I Gaucher disease. (1982) (7)
Genetic mapping of retinitis pigmentosa--implications for South African patients. (1994) (7)
Fluid Balance in the Sahara (1971) (7)
Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: an autosomal recessive syndrome? (1993) (7)
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation (2019) (7)
The proteus syndrome: the magnetic resonance and radiological features (2006) (7)
[Joint instability: methods of measuring and epidemiology]. (1984) (7)
Osteogenesis imperfecta congenita (2005) (7)
Broad clavicles in trisomy 8 mosaicism: a new sign (1999) (7)
Genetics and otology (1982) (7)
Spina bifida and anencephaly in the Cape. (1978) (6)
Joint capsule collagen. Analysis by the study of intra-articular pressure during joint distension. Measurements in the knees of control subjects and patients with rheumatoid arthritis and Ehlers-Danlos syndrome. (1971) (6)
Gibbal achondroplasia. (1981) (6)
Comprar Hypermobility of Joints | Bird, Howard | 9781848820845 | Springer (2009) (6)
Lethal non-rhizomelic dysplasia epiphysealis punctata (2002) (6)
The evolution of the nosology of osteogenesis imperfecta (2020) (6)
Focal dermal hypoplasia: management of complex dental features. (2001) (6)
Hypertrophic interstitial neuropathy of Déjérine-Sottas. (1971) (6)
Excessive Siamese twinning in Southern Africa. (1976) (6)
Pregnancy in the marfan syndrome. (1982) (6)
Heritable Disorders of Connective Tissue (1960) (6)
Adult onset spinocerebellar ataxia linked to HLA in a South African kindred of mixed ancestry. (1992) (6)
Pseudoxanthoma elasticum in South Africa--genetic and clinical implications. (1984) (6)
Cutis laxa-a heterogeneous disorder. (1974) (6)
The genetics of childhood deafness. (1997) (6)
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. (2016) (5)
Renal failure in a 44 year-old female (1980) (5)
Namaqualand hip dysplasia. Orthopedic implications. (1987) (5)
Osteochondrodystrophies with marked platyspondyly and distinctive peripheral anomalies (1999) (5)
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. (1996) (5)
Alimentary bleeding in cutis laxa of late onset. (1972) (5)
St. Helena familial genu valgum (1986) (5)
LATS activity, exophthalmos and digital clubbing associated with myxoedema. (1968) (5)
Parastremmatic dwarfism. (1976) (5)
Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. (2012) (5)
Sclerosteosis. (1988) (5)
Freeman-Sheldon syndrome: dental and orthodontic implications. (2005) (4)
Ectrodactyly in central Africa. (1985) (4)
Nomenclature and Terminology (1982) (4)
Osteopetrosis and Other Sclerosing Bone Dysplasias (1978) (4)
Medical genetics in primary health care. (1995) (4)
Medical hazards of air travel. (1967) (4)
Recessively inherited Charcot-Marie-Tooth syndrome in identical twins. (1971) (4)
Duchenne muscular dystrophy--a molecular service. (1991) (4)
Ehlers-Danlos Syndrome (Two Cases) (1968) (4)
Dyssegmental dysplasia in a South African neonate (2008) (4)
Do the radiographic features of joint destruction in tophaceous gout imply a different pathophysiology to that of rheumatoid and psoriatic arthritis? (2010) (4)
Genetic Aspects of the Hypermobility Syndrome (1989) (4)
Alzheimer's disease in multiple members of a family. (1971) (4)
Wolf-Hirschhorn syndrome; oro-dental manifestations and management. (2009) (4)
Enchondromatosis with dwarfism and deafness (1989) (4)
Inherited anaemias in the Greek community of Cape Town. (1979) (4)
Easter Island People (1966) (4)
Inherited disorders in the black population of southern Africa. Part III. Multifactorial, chromosomal and congenital conditions. (1986) (4)
Variability of spondylo-metaphyseal dysplasia, common type. (1980) (4)
Lethal epiphyseal stippling in the foetus and neonate; pathological implications (2010) (3)
Genetic disease in South Africa. A molecular approach. (1987) (3)
Molecular technology in clinical genetics. (1983) (3)
Molecular genetics and Huntington's disease. The South African situation. (1987) (3)
Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. (1992) (3)
Duchenne muscular dystrophy in South Africa. Prevention by molecular techniques. (1987) (3)
Genetic disorders in the Indian community of South Africa. (2011) (3)
Thalassaemia in the Greek community of Cape Town. (1983) (3)
The physical properties of skin in cutis laxa. (1971) (3)
Evidence forgenetic heterogeneity intuberous sclerosis (1989) (3)
Watson, G.H. (1997) (3)
Increased Bone Density (2020) (3)
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly. (2015) (3)
Skeletal Dysplasia Syndromes (2001) (3)
Syndrome identification case report 98: arachnodactyly, joint laxity, and spondylolisthesis. (1983) (2)
Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy (2009) (2)
A computerized genetic record system. (1984) (2)
Tetraphocomelia with the Waardenburg syndrome and multiple malformations (2009) (2)
Cleido-Cranial Dysplasia (1978) (2)
A microcomputer-based relational database for an academic department of human genetics. (1986) (2)
Obstetric implications of conjoined twinning (1984) (2)
Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated. (2020) (2)
Orthopaedic Problems in Inherited Skeletal Disorders (1982) (2)
The Gordon syndrome revisited. (2000) (2)
Heritable Hypermobility Syndromes (1989) (2)
Extra-articular Manifestations of Hypermobility (2012) (2)
Clinical and biochemical disorders of the skeleton (2006) (2)
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. (2017) (2)
Boomerang dysplasia. (2020) (2)
BECKER, Peter Emil (1997) (2)
Rheumatic disorders in the South African Negro. Part III. Idiopathic necrosis of the femoral head. (1975) (2)
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. (2005) (2)
BELL, Sir Charles (1997) (2)
Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy (2015) (2)
A clinical and ultrastructural study of osteogenesis imperfecta after flavonoid (Catergen) therapy. (1984) (2)
Introduction to Hypermobility (2012) (2)
Osteochondrodysplasias in South Africa. (1996) (2)
The Torg-Winchester form of hereditary osteolysis: Orthopaedic manifestations and management (2013) (2)
Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B (2020) (2)
Distal osteosclerosis (1980) (2)
South African human genes in health and disease--a molecular genetics approach. (1984) (2)
GOODMAN,Richard M (1997) (2)
Developmental absence of the premolar teeth: dental management. (2002) (2)
Atelosteogenesis Type I: Autopsy Findings (2011) (2)
Help! Unusual X-ray appearances of a congenital bone disease of unknown aetiology (2001) (2)
Rheumatoid arthritis ina tribal Xhosapopulation in theTranskei, Southern Africa (1977) (2)
Orthopaedic Aspects of the Ehlers.danlos Syndrome 444 the Journal 01: Bone and Joint Surgery (2)
Kaufman, R. L. (1997) (1)
The Waardenburg -syndrome children in southern Africa (1983) (1)
Multiple malformations: a possible Sonic hedgehog phenotype? (2009) (1)
Osteogenesis imperfecta type IIa with pseudoanencephaly. (2008) (1)
HALL, Judith G (1996) (1)
Histopathology and Collagen Chemistry in Hypermobility (1983) (1)
Dental implications of bisphosphonate therapy in osteogenesis imperfecta (2017) (1)
Osteogenesis imperfecta and holoprosencephaly. (2007) (1)
Generalised Decrease in Bone Density (1982) (1)
Biochemistry of Joint Hypermobility (1989) (1)
Pyrexia as a presenting feature of tuberculosis in asian immigrants. (1967) (1)
Charcot-Marie-Tooth syndrome, dominantly inherited. (1971) (1)
The Molecular Basis of Joint Hypermobility (2012) (1)
Oceanic islands--a unique opportunity for medical research. (1986) (1)
History and Nomenclature (1980) (1)
Portraits and Biographies (1986) (1)
Rubinstein-Taybi syndrome: Dental manifestations and management (2014) (1)
Visceral manifestations of hypochondrogenesis (2008) (1)
Osteoarthrosis inarural SouthAfrican Negropopulation (1976) (1)
Digitotalar dysmorphism: Molecular elucidation. (2016) (1)
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community (2018) (1)
Calcification of Breast Tissue in the Ehlers–Danlos Syndrome (2009) (1)
Clinical and Genetic Evaluation of the Neonate with Skeletal Dysplasia (1978) (1)
Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes (2015) (1)
Gastrointestinal Bleeding in the Ehlers-Danlos Syndrome (1968) (1)
Lethal Short Rib-Polydactyly Syndromes (1978) (1)
Achondrogenesis type II with cutaneous hamartomata. (2008) (1)
HOLMES Sir Gordon (1997) (1)
NOONAN, Jacqueline A (1997) (1)
Marfan syndrome in South Africa: a molecular genetic approach to diagnosis. (2007) (1)
Gaucher's disease in the black population of South Africa. A case report. (1983) (1)
ultrastructural study of after flavonoid A clinical and osteogenesis imperfecta (Catergen) therapy (1984) (1)
The present state and future of the medical sciences in South Africa. (1978) (1)
GUNN, Robert Marcus (1996) (1)
Lynch, H.T. (1997) (1)
LOUIS-Bar, Denise (1997) (1)
Herrmann, C. Jr. (1997) (1)
KALLMANN, Franz Josef (1997) (1)
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation (2019) (1)
Asphyxiating Thoracic Dysplasia (1978) (1)
Cohen, M. Michael, Jr. (1997) (1)
Duplication of the nipples and areolae. (2007) (1)
Dyssegmental Dysplasia with Bone Entrapment and Visceral Ramifications (2010) (1)
Negro population . urbanized South African concentrations in an Serum uric acid and (0)
Author ' s response to reviews Title : CANDLE SYNDROME : unreported orofacial features and dental implications (2015) (0)
Proceedings: Dik Kop disease: a variety of osteopetrosis. (1975) (0)
Binder, K.H. (1997) (0)
STRANDBERG, James Victor (1997) (0)
Limb and Digital Anomalies (1982) (0)
Spondylometaphyseal dysplasia sutcliffe type : case report (2007) (0)
Retrospective diagnosis of chondrodysplasia punctata. (2006) (0)
Spondyloepiphyseal Dysplasia Congenita (1978) (0)
Sipple, J.H. (1997) (0)
Hypermobile Joints (1968) (0)
PARRY, Caleb Hillier (1997) (0)
Beemer, F.A. (1997) (0)
Marshall, R.E. (1997) (0)
Genetic Epidemiology of South Atlantic Oceanic Islands (2012) (0)
Heritable Disorders of the Skeleton in South Africa (2012) (0)
COGAN, David Glandinning (1997) (0)
DANDY, Walter Edward (1997) (0)
Gaucher's disease inSouthAfrica (1979) (0)
Medical genetics in clinical practice. (1974) (0)
WALKER, Arthur Eart (1997) (0)
Pituitary dwarfism in a Kalahari bushman. (1972) (0)
Abnormalities of Cartilage and Fibrous Tissue (1982) (0)
Genetic Disorders in Minority Groups in South Africa (2012) (0)
PERTHES, Georg Clemens (1997) (0)
Pseudoxanthoma Africa - genetic elasticum in and clinical South implications (1984) (0)
The changing epidemiology of serum albumin levels in Southern Africa. (1977) (0)
Hereditary Deafness in Southern Africa (2012) (0)
HUËT, Gauthier Jean (1997) (0)
KORSAKOV, Sergei Sergeivich (1997) (0)
Table 2. [Distinguishing Features of Sclerosteosis and van Buchem Disease]. (2013) (0)
HUTCHINSON, Sir Jonathan (1997) (0)
Aberfeld, D.C. (1997) (0)
Biomechanics of Hypermobility; Selected Aspects (1989) (0)
LOBSTEIN, Jean Fréderic (1997) (0)
HOLLISTER, David William (1996) (0)
Oculodento-Osseous Dysplasia (1980) (0)
Heritable disorders of the skeleton (1992) (0)
Familial Hyperdontia in the Deciduous Dentition (2009) (0)
Osteoectasia with Hyperphosphatasia (1980) (0)
SECKEL, Helmut P.G. (1997) (0)
Sjögren, H.S.C. (1997) (0)
Autosomal recessive RP (ARRP) (1994) (0)
Antenatal diagnosis--its present status and future prospects. (1982) (0)
Beals, R.K. (1997) (0)
Miller, J.Q. (1997) (0)
COOLEY, Thomas B. (1997) (0)
The Investigation and General Management of Bone Dysplasias (1982) (0)
Schinzel, A.A.G.L. (1997) (0)
Southern Africa . Tswana community in concentrations in a rural Serum uric acid (0)
Familial Undifferentiated Hypermobility Syndromes (1983) (0)
Mucopolysaccharidoses (MPS) and Other Storage Disorders (1982) (0)
AASE, J.M. (1997) (0)
STEIN, Irving F. (1997) (0)
Thehighfrequency ofjuvenile Huntington's chorea inSouth Africa (1982) (0)
Bannayan, G.A. (1997) (0)
Disorders of the Epiphyses and Metaphyses with Major Vertebral Involvement (1982) (0)
Infantile Cortical Hyperostosis (Caffey Disease) (1980) (0)
Confirmation of the recurrent ACVR 1 617 G > A mutation in South Africans with fibrodysplasia ossificans progressiva (0)
Serumuricacidconcentrations ina rural TswanacommunityinSouthern Africa (1973) (0)
Clinical and genetic implications of arthrogryposis and allied disorders (1984) (0)
GROENBLAD, Ester Elisabeth (1996) (0)
WOLCOTT, Carol Nancy Dettman (1997) (0)
Ward, O.C. (1997) (0)
Glucose-6-phosphate dehydrogenase deficiency in the Greek population of Cape Town. (1984) (0)
Riley, H.D. Jr (1997) (0)
SYNDROME OF THE MONTH Schwartz-Jampel syndrome (chondrodystrophic myotonia) (0)
PARKINSON, Sir John (1997) (0)
Osteodysplasty (Melnick-Needles Syndrome) (1980) (0)
Cranio-Facial Abnormalities (1982) (0)
Rallison, M.L. (1997) (0)
HOOFT, Carlos M. (1997) (0)
MARTIN, James Purdon (1997) (0)
Fallot, E-L.A. (1997) (0)
WORTH, Harry Mullins (1997) (0)
CUSHING, Harvey Williams (1997) (0)
Syndromes of the head and neck.: 4th edition. Edited by Robert J. Gorlin, M. Michael Cohen Jr, and Raoul C. M. Hennekam. Pp 1283. Oxford, etc: Oxford University Press, 2001. ISBN: 0-19-511861-8. £165.00. (2002) (0)
Miscellaneous Joint Laxity Syndromes (1983) (0)
Craniotubular Dysplasias and Hyperostoses (1982) (0)
Diaphyseal Dysplasia (Camurati-Engelmann Disease) (1980) (0)
STARGARDT, Karl Bruno (1997) (0)
Ivemark, B.I. (1997) (0)
John P. Caffey, 1895–1978 (2023) (0)
GOWERS, Sir William Richard (1997) (0)
Pallister, P.D. (1997) (0)
LITTLE, William John (1997) (0)
Syndrome of the month Craniometaphyseal dysplasia (CMD), autosomal dominant form (0)
Taurodontism in dental genetics (2021) (0)
BLOUNT, Walter Putnam (1997) (0)
Roussy-Levy hereditary areflexic dystasis presenting as Charcot-Marie-Tooth syndrome. (1971) (0)
SULZBERGER, Marion B. (1997) (0)
WAARDENBURG SYNDROME IS CAUSED BY DEFECTS AT MULTIPLE LOCI, ONE OF WHICH IS TIGHTLY LINKED TO ALPP ON CHROMOSOME-2 - 1ST REPORT OF THE WS CONSORTIUM (1991) (0)
Multiple congenital contractures and early lethality (1984) (0)
Management of Articular Complications in the Hypermobility Syndrome (1989) (0)
Cytogenetics in medical practice. (1974) (0)
Generalised Skeletal Abnormalities (2001) (0)
CONSISTENT LINKAGE OF DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA TO COLLAGEN-1 GENES (1988) (0)
Transkei foot. (1974) (0)
WHITE, Paul Dudley (1997) (0)
Illustrative Case Histories (2012) (0)
The tricho-rhino-phalangeal syndrome: oral manifestations and management. (2014) (0)
Humidification in the Intensive Care Unit: The Essentials (2023) (0)
Trifluoperazine overdosage. (1967) (0)
Points from Letters: Cutis laxa (1970) (0)
Table 1. [Summary of Molecular Genetic Testing Used in SOST-Related Sclerosing Bone Dysplasias]. (2013) (0)
Cleidocranial dysplasia presenting as familial coxa vara in a South African family (2011) (0)
Conductive deafness and palatopharyngeal incompetence in the Treacher Collins syndrome. (1971) (0)
Future Avenues for Research (2012) (0)
Metaphyseal Dysplasia (Pyle Disease) (1980) (0)
Workshop: Nosology of the Inherited Disorders of Connective Tissue (1987) (0)
- 1-Confirmation of the recurrent ACVR 1 617 G > A mutation in South Africans with Fibrodysplasia Ossificans Progressiva : narrowing targets for molecular therapeutic intervention (2011) (0)
Kearns, T.P. (1997) (0)
in the black of southern Africa Inherited disorders population Part I. Historical and demographic background; genetic haematological conditions (1986) (0)
Management of Normal Pregnancy, Labor and Puerperium: MEDICAL HAZARDS OF AIR TRAVEL (1968) (0)
Differential Diagnosis: Other Sclerosing Disorders (1980) (0)
Weaver, D.D. (1997) (0)
A clinical look at how contortionists contort. (1971) (0)
The doctor and the dwarf (1980) (0)
FALLS, Harold Francis (1997) (0)
DAY, Richard Lawrence (1997) (0)
The scope of human genetics (1973) (0)
The Clinical Features of Sclerosteosis (2020) (0)
Adie, William John (1997) (0)
Disorders of the Epiphyses and Metaphyses with Predominant Metaphyseal Involvement (1982) (0)
Genetic Disorders of the Indian Subcontinent (2008) (0)
Regional Skeletal Abnormalities (2001) (0)
Genetics and geriatics (1981) (0)
genes in health • genetIcs human a molecular South African and disease approach (1984) (0)
UWC - UCT Dental Human Genetics Collaboration: A Report (2018) (0)
Miscellaneous Sclerosing Dysplasias (1980) (0)
Ultrasonic diagnosis of perinatal lethal hypophosphatasia (2013) (0)
Fuhrmann, W.J.G. (1924–1995) (1997) (0)
RILEY, Conrad M. (1997) (0)
Heritable Disorders of Connective Tissue in South Africa (2012) (0)
Bone and Joint Disorders on Tristan da (2007) (0)
CANAVAN, Myrtelle M. (1997) (0)

This paper list is powered by the following services:

Other Resources About Peter Beighton

en.wikipedia.org

What Schools Are Affiliated With Peter Beighton?

Peter Beighton is affiliated with the following schools:

Peter Beighton's Academic­Influence.com Rankings