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Hypermobility in Medical Practice

1, 2023

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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History Page: Leaders in MSK Radiology Brian Joseph Cremin (1929–2012)

Seminars in musculoskeletal radiology, 2023-10, Vol.27 (5), p.596-598

Beighton, Peter

2023

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Taurodontism in dental genetics

BDJ open, 2021-07, Vol.7 (1), p.25-25, Article 25

2021

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

Oral surgery, oral medicine, oral pathology and oral radiology, 2013, Vol.115 (1), p.46-55

2013

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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

American journal of human genetics, 2001-03, Vol.68 (3), p.577-589

2001

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Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers

The journal of clinical endocrinology and metabolism, 2005-12, Vol.90 (12), p.6392-6395

2005

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Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

American journal of human genetics, 2000-07, Vol.67 (1), p.59-66

2000

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The evolution of the nosology of osteogenesis imperfecta

Clinical genetics, 2021-01, Vol.99 (1), p.42-52

2021

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

American journal of human genetics, 2001-06, Vol.68 (6), p.1321-1326

2001

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John P. Caffey, 1895–1978

Seminars in musculoskeletal radiology, 2023-02, Vol.27 (1), p.124-126

2023

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Jacques Calvé, 1875-1954

Seminars in musculoskeletal radiology, 2022-12, Vol.26 (6), p.777-778

2022

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Warfarin embryopathy: fetal manifestations

Virchows Archiv : an international journal of pathology, 2010-12, Vol.457 (6), p.735-739

2010

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Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community

Human molecular genetics, 2019-04, Vol.28 (7), p.1053-1063

2019

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Kazimierz S. Kozlowski, 1928

Seminars in musculoskeletal radiology, 2023-04, Vol.27 (2), p.226-228

2023

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A Mutation in the Variable Repeat Region of the Aggrecan Gene ( AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

American journal of human genetics, 2005-09, Vol.77 (3), p.484-490

2005

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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

SAMJ: South African Medical Journal, 2015-07, Vol.105 (7), p.558-563

2015

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Bruck syndrome: congenital joint contractures with bone fragility

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 2005-11, Vol.10 (6), p.641-646

2005

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The natural history of sclerosteosis

Clinical genetics, 2003-03, Vol.63 (3), p.192-197

2003

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Lethal epiphyseal stippling in the foetus and neonate; pathological implications

Virchows Archiv : an international journal of pathology, 2010-03, Vol.456 (3), p.301-308

2010

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Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

Human mutation, 2020-11, Vol.41 (11), p.1871-1876

2020

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Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2011-07, Vol.112 (1), p.11-18

2011

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Autosomal Dominant (Beukes) Premature Degenerative Osteoarthropathy of the Hip Joint Maps to an 11-cM Region on Chromosome 4q35

American journal of human genetics, 1999-03, Vol.64 (3), p.904-908

1999

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A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

SAMJ: South African Medical Journal, 2016-03, Vol.106 (3), p.272-275

2016

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Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2009-06, Vol.107 (6), p.754-758

2009

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Hypermobility in Medical Practice

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

History Page: Leaders in MSK Radiology Brian Joseph Cremin (1929–2012)

Taurodontism in dental genetics

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

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers

Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

The evolution of the nosology of osteogenesis imperfecta

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

John P. Caffey, 1895–1978

Jacques Calvé, 1875-1954

Warfarin embryopathy: fetal manifestations

Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community

Kazimierz S. Kozlowski, 1928

A Mutation in the Variable Repeat Region of the Aggrecan Gene ( AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

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

Bruck syndrome: congenital joint contractures with bone fragility

The natural history of sclerosteosis

Lethal epiphyseal stippling in the foetus and neonate; pathological implications

Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases

Autosomal Dominant (Beukes) Premature Degenerative Osteoarthropathy of the Hip Joint Maps to an 11-cM Region on Chromosome 4q35

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations

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