Publications by authors named "Peter Beighton"

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History Page: Leaders in MSK Radiology Brian Joseph Cremin (1929-2012).
Peter Beighton

Semin Musculoskelet Radiol· October 2023

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Kazimierz S. Kozlowski, 1928.
Peter Beighton, Filip M Vanhoenacker

Semin Musculoskelet Radiol· April 2023

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John P. Caffey, 1895-1978.
Peter Beighton, Filip M Vanhoenacker

Semin Musculoskelet Radiol· February 2023

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Jacques Calvé, 1875-1954.
Filip M Vanhoenacker, Peter Beighton

Semin Musculoskelet Radiol· December 2022

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Taurodontism in dental genetics.
Manogari Chetty, Imaan A Roomaney, Peter Beighton

BDJ Open· July 2021

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The evolution of the nosology of osteogenesis imperfecta.
Manogari Chetty, Imaan Amina Roomaney, Peter Beighton

Clin Genet· January 2021

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Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Lisa Roberts, Stephanie Julius, Shrinav Dawlat, Safiye Yildiz, George Rebello, Peter Beighton

Hum Mutat· November 2020

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Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
Emile R Chimusa, Peter Beighton, Judit Kumuthini, Rajkumar S Ramesar

Hum Mol Genet· April 2019

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SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel

Eur J Med Genet· October 2017

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Craniofacial manifestations in osteogenesis imperfecta type III in South Africa.
Manogari Chetty, Tina Sharon Roberts, Lawrence Stephen, Peter Beighton

BDJ Open· October 2017

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Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.
Alvera Vorster, Peter Beighton, Manogari Chetty, Yasmeen Ganie, Bertram Henderson

S Afr Med J· April 2017

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Digitotalar dysmorphism: Molecular elucidation.
Anna Alvera Vorster, Peter Beighton, Rajkumar Sewcharan Ramesar

S Afr Med J· February 2016

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A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome.
Careni Spencer, Karen Fieggen, Anna Vorster, Peter Beighton

S Afr Med J· February 2016

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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.
Christopher Mark Watson, Laura A Crinnion, Lindsay Gleghorn, William G Newman, Rajkumar Ramesar, Peter Beighton

S Afr Med J· September 2015

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Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Magdalena Badura-Stronka, Dariusz Mróz, Peter Beighton, Sebastian Łukawiecki, Katarzyna Wicher

Birth Defects Res A Clin Mol Teratol· June 2015

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Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy.
Gasnat Shaboodien, David A Watkins, Komala Pillay, Peter Beighton, Jeannine M Heckmann

Pract Neurol· April 2015

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Autopsy observations in lethal short-rib polydactyly syndromes.
Patricia Okiro, Helen Wainwright, Jürgen Spranger, Peter Beighton

Pediatr Dev Pathol· March 2015

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Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience.
Tina Roberts, Lawrence Stephen, Peter Beighton

Oral Surg Oral Med Oral Pathol Oral Radiol· January 2013

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Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva.
Collet Dandara, Chris Scott, Mike Urban, Karen Fieggen, Regan Arendse, Peter Beighton

S Afr Med J· May 2012

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Atelosteogenesis type I: autopsy findings.
Annasu Wessels, Helen C Wainwright, Peter Beighton

Pediatr Dev Pathol· March 2012

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UCT's contribution to medical genetics in Africa - from the past into the future.
Peter Beighton, Karen Fieggen, Ambroise Wonkam, Raj Ramesar, Jacquie Greenberg

S Afr Med J· March 2012

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Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases.
Tina Roberts, Lawrence Stephen, Chris Scott, M Urban, Stephen Sudi, Peter Beighton

Oral Surg Oral Med Oral Pathol Oral Radiol Endod· July 2011

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Brian P Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Peter Beighton

J Bone Miner Res· March 2011

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Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country.
Chris Scott, Mike Urban, Regan Arendse, Collet Dandara, Peter Beighton

J Clin Rheumatol· January 2011

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Warfarin embryopathy: fetal manifestations.
Helen Wainwright, Peter Beighton

Virchows Arch· December 2010

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